Staff Profile

Roles and Responsibilities

Specialty Advisory Committee Member for Diabetes & Endocrinology and for Metabolic Medicine.

Founder Member & Vice Chair of COST Action BM1105 (Neuroendocrine Control of Reproduction).

This is an EU-funded, international consortium of physicians and scientists studying hypogonadotropic hypogonadism, which is characterised by delayed or absent puberty, and infertility. This condition results from GnRH deficiency and is frequently associated with a lack of sense of smell (called Kallmann syndrome). This 4 year project, funded by COST (European Cooperation in Science & Technology), aims to build a collaborative network that is actively seeking to involve patients, in order to translate scientific discoveries into improved patient care. www.gnrhnetwork.eu

Qualifications

MBBChir
MA
MD
FRCP

Previous Positions

Regional Training Programme Director for Endocrinology & Diabetes

Memberships

Association of Physians
Society for Endocrinology
Endocrine Society
Caledonian Society for Endocrinology

Honours and Awards

Ralph Noble Prize, University of Cambridge, 2001

Languages

Italian
French
German
Dutch

Research Interests

Clinical and genetic aspects of idiopathic hypogonadotrophic hypogonadism (IHH)

Current Work

Evaluation of the contribution of NELF and/or FGFR1 gene mutations to the genetic predisposition to IHH. Ongoing collaboration with Dr SHS Pearce (IHG, Newcastle) and Prof WF Crowley, Jr (Reproductive Endocrine Unit, Harvard University)

Undergraduate Teaching

Assistant Organiser/Co-ordinator for CSIM3 Course (Metabolic Medicine)
Tutor on FOCP course

• Raivio T, Sidis Y, Plummer L, Chen HB, Ma JH, Mukherjee A, Jacobson-Dickman E, Quinton R, Van Vliet G, Lavoie H, Hughes VA, Dwyer A, Hayes FJ, Xu SY, Sparks S, Kaiser UB, Mohammadi M, Pitteloud N. Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism. Journal of Clinical Endocrinology and Metabolism 2009, 94(11), 4380-4390.
• Nicol MR, Papacleovoulou G, Evans DB, Penning TM, Strachan MWJ, Advani A, Johnson SJ, Quinton R, Mason JI. Estrogen biosynthesis in human H295 adrenocortical carcinoma cells. Molecular and Cellular Endocrinology 2009, 300(1-2), 115-120.
• Igreja S, Chahal HS, Akker SA, Gueorguiev M, Popovic V, Damjanovic S, Burman P, Wass JA, Quinton R, Grossman AB, Korbonits M. Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations. Clinical Endocrinology 2009, 70(2), 259-264.
• Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce SHS, Crowley Jr WF, Zhou Q-Y, Pitteloud N. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum. Journal of Clinical Endocrinology and Metabolism 2008, 93(9), 3551-3559.
• Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC, Jordan S, Rowe J, Stolbrink M, Christian HC, Wray J, Bishop-Bailey D, Berney DM, Wass JAH, Popovic V, Ribeiro-Oliveira A, Gadelha MR, Monson JP, Akker SA, Davis JRE, Clayton RN, Yoshimoto K, Iwata T, Matsuno A, Eguchi K, Musat M, Flanagan D, Peters G, Bolger GB, Chapple JP, Frohman LA, Grossman AB, Korbonits M. The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. Journal of Clinical Endocrinology and Metabolism 2008, 93(6), 2390-2401.
• Falardeau J, Chung WCJ, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dvfyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SHS, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. Journal of Clinical Investigation 2008, 118(8), 2822-2831.
• Syed AA, Quinton R. Congenital radioulnar synostosis, azoospermia, and pseudodicentric Y chromosome. Fertility and Sterility 2008, 90(2), 425-426.
• Langham S, Maggi M, Schulman C, Quinton R, Uhl-Hochgraeber K. Health-Related Quality of Life Instruments in Studies of Adult Men with Testosterone Deficiency Syndrome: A Critical Assessment. Journal of Sexual Medicine 2008, 5(12), 2842-2852.
• Advani A, Vaikkakara S, Gill M, Arun CS, Pearce S, Ball SG, James R, Lennard TWJ, Bliss R, Quinton R, Johnson SJ. Impact of standardised reporting in adrenocortical carcinoma: A single centre clinicopathological review. Journal of Clinical Pathology 2008, 61(8), 939-944.
• Al-Ozairi E, Michael E, Quinton R. Insulin resistance causing severe postmenopausal hyperandrogenism. International Journal of Gynecology and Obstetrics 2008, 100(3), 280-281.
• Sievenpiper JL, McIntyre EA, Verrill M, Quinton R, Pearce SHS. Lesson of the week: Unrecognised severe hypovitaminosis D. British Medical Journal 2008, 336(7657), 1371-1374.
• Vaiikkakara S, Al-Ozairi E, Lim E, Advani A, Ball SG, James RA, Quinton R. The investigation and management of severe hyperandrogenism pre-and post menopause: Non-tumor disease is strongly associated with metabolic syndrome and typically responds to insulin-sensitization with metformin. Gynecological Endocrinology 2008, 24(2), 87-92.
• Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng Y-Z, Li W-P, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley Jr W. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. Journal of Clinical Investigation 2007, 117(2), 457-463.
• Sutherland A, Davies JM, Owen CJ, Vaikkakara S, Walker C, Cheetham TD, James RA, Perros P, Donaldson PT, Cordell HJ, Quinton R, Pearce SHS. Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. Journal of Clinical Endocrinology & Metabolism 2007, 92(8), 3338-3341.
• Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF, Pitteloud N. Reversal of idiopathic hypogonadotropic hypogonadism. New England Journal of Medicine 2007, 357(9), 863-873.
• Maggi M, Schulman C, Quinton R, Langham S, Uhl-hochgraeber K. The burden of testosterone deficiency syndrome in adult men: Economic and quality-of-Life impact. Journal of Sexual Medicine 2007, 4(4 I), 1056-1069.
• Lim EL, Macleod I, Carr D, Manas D, Quinton R, James RA. Carcinoid tumour: spontaneous regression following pregnancy. In: Endocrine Abstracts: 8th European Congress of Endocrinology. 2006, Glasgow, UK: BioScientifica Ltd.
• Ioannidou-Kadis S, Wright PJ, Neely RD, Quinton R. Complete reversal of adult-onset isolated hypogonadotropic hypogonadism with clomiphene citrate. Fertility and Sterility 2006, 86(5), 1513 e5-e9.
• Peaston RT, Ball SG, Quinton R, James RA, Pearce SHS, Lennard TWJ, Neely RDG. Detection of phaeochromocytoma: The emerging role of plasma metanephrines. In: 8th European Congress of Endocrinology. 2006, Glasgow: BioScientifica.
• Thomas RM, Bliss R, Richardson D, Johnson S, Turner S, Bennett SM, Quinton R. Functioning adrenocortical carcinoma and the clinical endocrinologist: toxic treatments and poor prognosis. In: Endocrine Abstracts: 8th European Congress of Endocrinology. 2006, Glasgow, UK: BioScientifica Ltd.
• Ibrahim IM, Lim EL, Razvi S, Pearce SHS, Leach N, Bennett SM, Mitra D, Wilsdon J, Baborie A, Johnson S, Burt AD, Wood K, Jones G, Windebank K, Pritchard J, Record CO, Quinton R. Langerhans cell histiocytosis: management dilemma for the adult endocrinologist. In: Endocrine Abstracts: 8th European Congress of Endocrinology. 2006, Glasgow, UK: BioScientifica Ltd.
• Arun CS, Mitra D, Ball SG, Hill J, Lewis J, Quinton R. Macroprolactinoma with progressive resistance to high-dose cabergoline. In: Endocrine Abstracts: 197th Meeting of the Society for Endocrinology. 2006, London, UK: BioScientifica Ltd.
• Pitteloud N, Meysing A, Quinton R, Acierno JS, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Mad J, Bouloux P-MG, Mohammadi M, Crowley WF Jr. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Molecular & Cellular Endocrinology 2006, 254-255, 60-69.
• Razvi S, Ashwell S, Korbonits M, Quinton R. Prolactinomas: all in the family?. In: Endocrine Abstracts: 197th Meeting of the Society for Endocrinology. 2006, London, UK: BioScientifica.
• Quinton R, Veeratterapillay R, Neely RD. The investigation and management of critical hyponatraemia. In: Endocrine Abstracts: 197th Meeting of the Society for Endocrinology. 2006, London: BioScientifica.
• Treece K, Narayanan K, Wass JAH, Karavitaki N, Parker D, Howlett T, Quinton R, Page R. A prospective follow up study of cognitive function in patients with pituitary tumours requiring surgery. In: 196th Meeting of the Society for Endocrinology. 2005, Royal College of Physicians, London: BioScientifica.
• Quinton R. Adolescent development - Advice in ABC of adolescence is potentially misleading. British Medical Journal 2005, 330(7494), 789-789.
• Ibrahim IM, Lim E-L, Coebergh J-A, Jenkins A, Lewis J, Mitra D, Quinton R. Ethics and pragmatism versus DoH guidelines: what to do?. In: 196th Meeting of the Society for Endocrinology. 2005, Royal College of Physicians, London: BioScientifica.
• Anthony S, Nayar R, McKay G, Woods D, Ball SG, Quinton R. Insulin-lowering therapy with metformin: a newly established treatment in polycystic ovary syndrome with a potential role in the differential diagnosis of severe hyperandrogenism. CME Bulletin Endocrinology & Diabetes 2005, 5(2), 71-77.
• MacColl G, Quinton R. Kallmann's syndrome: Bridging the gaps. Journal of Pediatric Endocrinology and Metabolism 2005, 18(6), 541-543.
• Ashwell SG, Peaston R, Quinton R. Metanephrine levels and cardiac failure: the chicken or the egg?. In: 7th European Congress of Endocrinology. 2005, Goteborg, Sweden.
• Quinton R, Brownrigg H. The Riots in Kandy. In: Bonnington, C, ed. More Tales from the Travellers. London, UK: Martin Tomkinson Publications, 2005.
• Lim E-L, Ibrahim IM, Quinton R. Thyrotoxic periodic paralysis in a caucasian man. In: 196th Meeting of the Society for Endocrinology. 2005, Royal College of Physicians, London: BioScientifica Ltd.
• Silveira L, Tanriverdi F, MacColl G, Ball SG, Bouloux P-MG, de Marco LA, Quinton R. A novel nonsense mutation of the KAL1 gene in a family with Kallmann. In: 12th International Congress of Endocrinology. 2004, Lisbon.
• Velaga R, Jennings C, Wilson V, Owen C, Pearce SHS, Quinton R. Analysis of the gonadotropin-releasing hormone gene in patients with idiopathic hypogonadotrophic hypogonadism. In: 12th International Congress of Endocrinology. 2004, Lisbon, Portugal.
• Quinton R, Cheetham T. Aromatase inhibition in an adolescent male with gynaecomastia: Hyperactivation of the reproductive axis without compromise of final height. In: 12th International Congress of Endocrinology. 2004, Lisbon, Portugal: ICE Publishing.
• MacIntyre E, Neely D, Aspray T, Quinton R. Chronic, severe osteomalacia with hypocalcaemia: I. Standard doses of Vitamin D replacement may be inadequate. II. Plasma PTH level is a sensitive and reliable marker of treatment response. In: 12th International Congress of Endocrinology Poster Presentation: Series A, Calcium Bone. 2004, Lisbon, Portugal.
• Sibal L, Ball SG, Connolly V, James RA, Kane P, Kelly WF, Kendall-Taylor P, Mathias D, Perros P, Quinton R, Vaidya B. Pituitary apoplexy: A review of clinical presentation, management and outcome in 45 cases. Pituitary 2004, 7(3), 157-163.
• Jarvis J, Nag S, Ball SG, Pearce SHS, James RA, Lennard TGW, Bliss R, Neely D, Quinton R. Rapid blockade with sodium ipodate in the pre-surgical management of resistant thyrotoxicosis: a retrospective study. In: 12th International Congress of Endocrinology. 2004, Lisbon: Medimond International Proceedings.
• Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, Ball SG, James RA, Quinton R, Perros P, Pearce SHS. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. Journal of Clinical Endocrinology and Metabolism 2004, 89(11), 5862-5865.
• James RA, Quinton R, Ball SG. Endocrinology and systemic disease. In: Harris, PE; Bouloux, P-MG, ed. Endocrinology in Clinical Practice. London: Martin Dunitz, 2003, pp.333-366.
• Quinton R, Robertson A, MacColl GS. Idiopathic hypogonadotrophic hypogonadism and abnormalities of the GnRH pulse generator. Topical Endocrinology 2003, 22, 15-20.
• Bennett SM, Quinton R. Congenital hypopituitarism presenting as adult-onset hypogonadotrophic hypogonadism. In: Endocrine Abstracts: 193rd Meeting of the Society for Endocrinology. 2002, London: BioScientifica Ltd.
• MacColl G, Quinton R, Bouloux PMG. GnRH neuronal development: Insights into hypogonadotrophic hypogonadism. Trends in Endocrinology and Metabolism 2002, 13(3), 112-118.
• MacColl G, Bouloux P, Quinton R. Kallmann syndrome: Adhesion, afferents, and anosmia. Neuron 2002, 34(5), 675-678.
• Sibal L, Ugwu P, Kendall-Taylor P, Ball SG, James RA, Pearce SHS, Hall K, Quinton R. Medical therapy of macroprolactinomas in males: I. prevalence of hypopituitarism at diagnosis. II. Proportion of cases exhibiting recovery of pituitary function. Pituitary 2002, 5(4), 243-246.
• Canavan R, Perros P, Cross IE, Francis RM. Dual Aetiology of hypogonadism: Kallmann's syndrome with 47XXY gonadal dysgenesis (Klinefelter's syndrome). In: Endocrine Abstracts. 2001, BioScientifica Ltd.
• Quinton R, Duke VM, Robertson A, Kirk JMW, Matfin G, de Zoysa PA, Azcona C, MacColl GS, Jacobs HS, Conway GS, Besser M, Stanhope RG, Bouloux PMG. Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization. Clinical Endocrinology 2001, 55(2), 163-174.
• Basu A, Ball SG, Cross IE, Quinton R. Isodicentric Y-chromosomal abnormality associated with cryptorchidism and severe hypogonadotrophic pubertal delay. Journal of Endocrinology 2000, 164(Supplement), P68.
• Quinton R. Phenotypic aspects of Kallmann's syndrome. Cambridge: University of Cambridge, 2000.
• Quinton R, Beirne P, Bouloux P-MG, Stanhope RG, Conway GS. Routine neuroimaging in classical isolated gonadotrophin deficiency is of limited clinical value. Clinical Endocrinology 2001, 54(1), 127-129.
• Krams M, Quinton R, Ashburner J, Friston KJ, Frackowiak RSJ, Bouloux P-MG, Passingham RE. Structural MRI in X-linked Kallmann’s syndrome: voxel-based morphometry demonstrates hypoplasia of the entorhinal cortex. In: 11th International Congress of Endocrinology. 2000, Sydney.
• Quinton R, Randeva H, Conway GS, Bouloux P-MG, Jacobs HS, Prelevic G. Bone mineral density in men with idiopathic gonadotropin deficiency. In: 81st Annual Meeting of the Endocrine Society. 1999, San Diego: Endocrine Society.
• Quinton R, Jacobs HS. Endogenous LH secretion in hypogonadotropic hypogonadism. In: Filicori, M; Flamigni, C, ed. The Role of Luteinizing Hormone in Folliculogenesis and Ovulation Induction. Bologna: Monduzzi, 1999, pp.91-104.
• Quinton R, Barnett P, Coskeran P, Bouloux PMG. Gordon Holmes spinocerebellar ataxia: a gonadotrophin deficiency syndrome resistant to treatment with pulsatile gonadotrophin-releasing hormone. Clinical Endocrinology 1999, 51(4), 525-529.
• Quinton R, Barnett P, Coskeran P, Bouloux P-MG. Gordon Holmes spinocerebellar ataxia: a syndrome of isolated hypogonadotrophic hypogonadism resistant to therapy with pulsatile gonadotrophin-releasing hormone. Clinical Endocrinology 1999, 51(4), 525-529.
• Quinton R, Cheow HK, Bouloux P-MG, Tymms DJ, Wu FCW, Jacobs HS. Kallmann's syndrome: is it always for life?. Clinical Endocrinology 1999, 50(4), 481-487.
• Whiter A, Quinton R, Stanhope RG, Hurel SJ, Conway GS. Polycystic ovary syndrome: a role for metformin in overweight teenagers. Journal of Endocrinology 1999, 163(Suppl), OC25.
• Quinton R, Coskeran P, Besser GM, Matfin G, Jacobs HS, Kirk JMW, Loumaye E, Warne D, Decosterd G, Bouloux P-MG. Recombinant human folliclestimulating hormone (Gonal-F) in combination with human chorionic gonadotrophin in spermatogenesis-induction in isolated hypogonadotrophic hypogonadism. Journal of Endocrinology 1999, 163(Suppl), OC27.
• Krams M, Quinton R, Ashburner J, Friston KJ, Bouloux P-MG, Frackowiak RSJ, Passingham JE. Kallmann’s syndrome: Mirror movements associated with bilateral corticospinal tract hypertrophy. Neurology 1999, 52, 816-822.
• Quinton R, Conway GS, Vanderpump MPJ, Bouloux P-MG, Jacobs HS. Adult-onset idiopathic hypogonadotrophic hypogonadism may be over-diagnosed. British Medical Journal 1998, 317, 600-601.
• De Zoysa PA, Helliwell RJA, Duke VM, Quinton R, P-MG Bouloux. Contrasting expression of KAL in cell free systems: 5'UTR and coding region structural effects on translation. Protein Expression & Purification 1998, 13, 235-242.
• Duke VM, Quinton R, Gordon I, Bouloux P-MG, Woolf AS. Proteinuria, hypertension and chronic renal failure in X-linked Kallmann's syndrome, a defined genetic cause of solitary functioning kidney. Nephrology, Dialysis & Transplantation 1998, 13, 1198-2003.
• Bouloux P-MG, De Zoysa PA, Quinton R, Robertson A. Recent insights into the pathogenesis of Kallmann's syndrome. In: Gonadotropin-Releasing Hormone and Sex Steroids: Proceedings of 4th International Congress of Neuroendocrinology. 1998, Kitakushi, Japan.
• Quinton R, Hasan W, Grant W, Thrasivoulou C, Quiney RE, Besser GM, Bouloux P-MG. GnRH immunoreactivity in the nasal epithelia of adults with Kallmann's syndrome and isolated hypogonadotropic hypogonadism and in the early midtrimester human fetus. Journal of Clinical Endocrinology and Metabolism 1997, 82, 309-314.
• Quinton R, Schofield JK, Duke VM, Bouloux P-MG, Buchanan CR, Ross EM, Leigh IM, Wood DF. Ichthyosis and delayed puberty: not always Kallmann's syndrome. Clinical & Experimental Dermatology 1997, 22, 201-204.
• Quinton R, Duke VM, De Zoysa PA, Bouloux P-MG. Kallmann's syndrome. Human Fertility 1997, 2(2), 105-106.
• Mayston MJ, Harrison LM, Quinton R, Stephens JA, Krams M, Bouloux P-MG. Mirror movements in X-linked Kallmann's syndrome. I. A neurophysiological study. Brain 1997, 120(7), 1199-1216.
• Krams M, Quinton R, Mayston MJ, Harrison LM, Dolan RJ, Bouloux P-MG, Stephens JA, Frackowiak RS, Passingham RE. Mirror movements in X-linked Kallmann's syndrome. II. A PET study. Brain 1997, 120(7), 1217-1228.
• Quinton R, Illingworth J, Martineau I, Loumaye E, Bouloux P-MG. First use of recombinant FSH to induce fertility in a hypogonadotropic male. Fertility & Sterility 1996, 66, 164.
• Quinton R, Bouloux P-MG. Male hypogonadism, infertility and impotence. In: Ginsberg J & Prelevic G, ed. Drug Therapy in Reproductive Endocrinology. London: Arnold, 1996, pp.242-258.
• Bouloux P-MG, De Zoysa PA, Duke VM, Quinton R. Molecular genetics and neurobiology of Kallmann's syndrome. In: Hansson, V; Levy, FO; Tasken, K, ed. Signal Transduction in Testicular Cells: basic and clinical aspects. Berlin: Springer-Verlag, 1996, pp.305-317.
• Quinton R, Duke VM, De Zoysa PA, Bouloux P-MG. The neurobiology of Kallmann's syndrome. Human Fertility 1996, 1(2), 121-127.
• Quinton R, Duke VM, de Zoysa PA, Platts AD, Valentine A, Kendall B, Pickman S, Kirk JMW, Besser GM, Jacobs HS, Bouloux P-MG. The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis. Journal of Clinical Endocrinology and Metabolism 1996, 81, 3010-3017.
• Quinton R, Kirk JMW, Bouloux P-MG. Identification of olfactory dysfunction in carriers of X-linked Kallmann's syndrome. Clinical Endocrinology 1995, 42, 557-559.
• Bouloux P-MG, Duke VM, Hall-Craggs MA, Manning P, Quinton R, Jacobs HS. Kallmann's syndrome. Current Opinion in Obstetrics & Gynaecology 1994, 6, 301-303.
• Quinton R, Duke VM, Kirk JMW, Bouloux P-MG. Male infertility. Lancet 1994, 344, 192.
• Quinton R, Matfin G, Bouloux P-MG, Loumaye E. Successful induction of fertility in a hypogonadotropic male. Lancet 1994, 343, 733.
• Kirk JMW, Besser GM, Shalet S, Quinton R, White MC, Smith CS, Edwards OM, Bouloux P-MG. Unilateral renal aplasia in X-linked Kallmann's syndrome. Clinical Genetics 1994, 46, 260-262.
• Quinton R, Siersema PD, Michiels JJ, ten Kate FJ. Renal AA amyloidosis in a patient with Bence-Jones proteinuria and ankylosing spondylitis. Journal of Clinical Pathology 1992, 45, 934-936.
• Gan E, Pattman S, Pearce SHS, Quinton R. A UK epidemic of testosterone prescribing, 2001-2010. Clinical Endocrinology 2013, 79(4), 564-570.
• Koika V, Varnavas P, Valavani H, Sidis Y, Plummer L, Dwyer A, Quinton R, Kanaka-Gantenbein C, Pitteloud N, Sertedaki A, Dacou-Voutetakis C, Georgopoulos NA. Comparative functional analysis of two fibroblast growth factor receptor 1 (FGFR1) mutations affecting the same residue (R254W and R254Q) in isolated hypogonadotropic hypogonadism (IHH). Gene 2013, 516(1), 146-151.
• Stefanija MA, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA, Florez JC, Cheetham T, Pearce SH, Purushothaman R, Schinzel A, Pugeat M, Jacobson-Dickman EE, Ten S, Latronico AC, Gusella JF, Dode C, Crowley WF, Pitteloud N. An ancient founder mutation in PROKR2 impairs human reproduction. Human Molecular Genetics 2012, 21(19), 4314-4324.
• Quinton R. Communication skills & overseas medical graduates. Journal of the Royal Society of Medicine 2012, 105(6), 232-232.
• Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng BH, Zhang CK, Zhou QY, Chen HB, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N. Genetic Overlap in Kallmann Syndrome, Combined Pituitary Hormone Deficiency, and Septo-Optic Dysplasia. Journal of Clinical Endocrinology and Metabolism 2012, 97(4), E694-E699.
• Pattman S, Quinton R, Pearce S, Datta H. Vitamin D testing. Lancet 2012, 379(9827), 1699-1700.
• Gianetti E, Hall JE, Au MG, Kaiser UB, Quinton R, Stewart JA, Metzger DL, Pitteloud N, Mericq V, Merino PM, Levitsky LL, Izatt L, Lang-Muritano M, Fujimoto VY, Dluhy RG, Chase ML, Crowley WF, Plummer L, Seminara SB. When Genetic Load Does Not Correlate with Phenotypic Spectrum: Lessons from the GnRH Receptor (GNRHR). Journal of Clinical Endocrinology and Metabolism 2012, 97(9), E1798-E1807.
• Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bulow HE. Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. Proceedings of the National Academy of Sciences 2011, 108(28), 11524-11529.
• Caronia LM, Martin C, Welt CK, Sykiotis GP, Quinton R, Thambundit A, Avbelj M, Dhruvakumar S, Plummer L, Hughes VA, Seminara SB, Boepple PA, Sidis Y, Crowley WF, Martin KA, Hall JE, Pitteloud N. A Genetic Basis for Functional Hypothalamic Amenorrhea. Obstetrical & Gynecological Survey 2011, 66(10), 618-619.
• Shaw ND, Seminara SB, Welt CK, Au MG, Plummer L, Hughes VA, Dwyer AA, Martin KA, Quinton R, Mericq V, Merino PM, Gusella JF, Crowley WF, Pitteloud N, Hall JE. Expanding the Phenotype and Genotype of Female GnRH Deficiency. Journal of Clinical Endocrinology and Metabolism 2011, 96(3), E566-E576.
• Mitchell AL, Dwyer A, Pitteloud N, Quinton R. Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory. Trends in Endocrinology and Metabolism 2011, 22(7), 249-258.
• Simms RJ, Sayer JA, Quinton R, Walker M, Ellard S, Goodship THJ. Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. QJM 2011, 104(10), 881-883.
• Wahab F, Quinton R, Seminara SB. The kisspeptin signaling pathway and its role in human isolated GnRH deficiency. Molecular and Cellular Endocrinology 2011, 346(1-2), 29-36.
• Advani A, Johnson SJ, Nicol MR, Papacleovoulou G, Evans DB, Vaikkakara S, Mason JI, Quinton R. Adult-onset hypogonadotropic hypogonadism caused by aberrant expression of aromatase in an adrenocortical adenocarcinoma. Endocrine Journal 2010, 57(7), 651-656.
• Keefe KW, Hoang XH, Plummer L, Dwyer AA, Au MG, Sykiotis GP, Thambundit A, Raivio T, Jacobson-Dickman E, Quinton R, Hughes VA, Seminara SB, Hayes FJ, Hall JE, Crowley WF, Pitteloud N. Genotype Prediction Based on Clinical Features of GnRH Deficiency. In: Endocrine Reviews: 92nd Meeting and Expo of the Endocrine Society (ENDO). 2010, San Diego, California, USA: The Endocrine Society.
• Gan EH, Quinton R. Physiological significance of the rhythmic secretion of hypothalamic and pituitary hormones. In: Martini, L, ed. Neuroendocrinology: The Normal Neuroendocrine System. Amsterdam, Netherlands: Elsevier, 2010, pp.111-126.
• Mamoojee Y, Ganguri M, Taylor N, Quinton R. Clinical Case Seminar: Postmenopausal androgen excess–challenges in diagnostic work-up and management of ovarian thecosis. Clinical Endocrinology 2018, 88(1), 13-20.
• Cassatella D, Howard SR, Acierno JS, Xu C, Papadakis GE, Santoni FA, Dwyer AA, Santini S, Sykiotis GP, Chambion C, Meylan J, Marino L, Favre L, Li J, Liu X, Zhang J, Bouloux P-M, Geyter C, Paepe A, Dhillo WS, Ferrara J-M, Hauschild M, Lang-Muritano M, Lemke JR, Fluck C, Nemeth A, Phan-Hug F, Pignatelli D, Popovic V, Pekic S, Quinton R, Szinnai G, l'Allemand D, Konrad D, Sharif S, Iyidir OT, Stevenson BJ, Yang H, Dunkel L, Pitteloud N. Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures. European Journal of Endocrinology 2018, 178(4), 377-388.
• Bouilly J, Messina A, Papadakis G, Cassatella D, Xu C, Acierno JS, Tata B, Sykiotis G, Santini S, Sidis Y, Elowe-Gruau E, Phan-Hug F, Hauschild M, Bouloux P-M, Quinton R, Lang-Muritano M, Favre L, Marino L, Giacobini P, Dwyer AA, Niederlander NJ, Pitteloud N. DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development. Human Molecular Genetics 2018, 27(2), 359-372.
• Pazderska A, Mamoojee Y, Artham S, Miller M, Ball SG, Cheetham T, Quinton R. Safety and tolerability of one-year intramuscular testosterone regime to induce puberty in older men with CHH. Endocrine Connections 2018, 7(1), 133-138.
• Xu C, Messina A, Somm E, Miraoui H, Kinnunen T, Acierno J, Niederlander NJ, Bouilly J, Dwyer AA, Sidis Y, Cassatella D, Sykiotis GP, Quinton R, De Geyter C, Dirlewanger M, Schwitzgebel V, Cole TR, Toogood AA, Kirk JMW, Plummer L, Albrecht U, Crowley Jr WF, Mohammadi M, Tena-Sempere M, Prevot V, Pitteloud N. KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. EMBO Molecular Medicine 2017, 9(10), 1379-1397.
• Dwyer AA, Tiemensma J, Quinton R, Pitteloud N, Morin D. Adherence to treatment in men with hypogonadotrophic hypogonadism. Clinical Endocrinology 2017, 86(3), 377-383.
• Dzemaili S, Tiemensma J, Quinton R, Pitteloud N, Morin D, Dwyer AA. Beyond hormone replacement: Quality of life in women with congenital hypogonadotropic hypogonadism. Endocrine Connections 2017, 6(6), 404-412.
• COST Action BM1105, Badiu C, Bonomi M, Borshchevsky I, Cools M, Craen M, Ghervan C, Hauschild M, Hershkovitz E, Hrabovszky E, Juul A, Kim S-H, Kumanov P, Lecumberri B, Lemos MC, Neocleous V, Niedziela M, Djurdjevic SP, Persani L, Phan-Hug F, Pignatelli D, Pitteloud N, Popovic V, Quinton R, Skordis N, Smith N, Stefanija MA, Xu C, Young J, Dwyer AA. Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism. Orphanet Journal of Rare Diseases 2017, 12(1), 57.
• Mitchell AL, Devine K, Lal V, Galloway P, House M, White K, Watson J, Parry S, Miller M, Morris M, James RA, Perros P, Pearce SHS, Quinton R. Improving the prehospital safety of steroid-dependent patients in northern England: A hospital-initiated ambulance service registration pathway. Clinical Endocrinology 2017, 87(6), 881-882.
• Salvatori R, Radian S, Diekmann Y, Iacovazzo D, David A, Gabrovska P, Grassi G, Bussell A-M, Stals K, Weber A, Quinton R, Crowne EC, Corazzini V, Metherell L, Kearney T, Du Plessis D, Sinha AK, Baborie A, Lecoq A-L, Chanson P, Ansorge O, Ellard S, Trainer PJ, Balding D, Thomas MG, Korbonits M. In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism. European journal of endocrinology 2017, 177(3), 257-266.
• Lal V, Mamoojee YH, Quinton R. Non-menopausal endocrine and non-endocrine causes of flushing and sweating. Post Reproductive Health 2017, 23(4), 177-182.
• Richards MR, Plummer L, Chan YM, Lippincott MF, Quinton R, Kumanov P, Seminara SB. Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. Journal of Medical Genetics 2017, 54(1), 19-25.
• Rosen RC, Wu F, Behre HM, Porst H, Meuleman EJH, Maggi M, Romero-Otero J, Martinez-Salamanca JI, Jones TH, Debruyne FMJ, Kurth K-H, Hackett GI, Quinton R, Stroberg P, Reisman Y, Pescatori ES, Morales A, Bassas L, Cruz N, Cunningham GR, Wheaton OA, for the RHYME Investigators. Quality of Life and Sexual Function Benefits of Long-Term Testosterone Treatment: Longitudinal Results From the Registry of Hypogonadism in Men (RHYME). Journal of Sexual Medicine 2017, 14(9), 1104-1115.
• McEleny K, Cheetham T, Quinton R. Should we be offering fertility preservation by surgical sperm retrieval to men with Klinefelter syndrome?. Clinical Endocrinology 2017, 86(4), 463-466.
• Quinton R, Mamoojee Y, Jayasena CN, Young J, Howard S, Dunkel L, Cheetham T, Smith N, Dwyer AA. Society for Endocrinology UK guidance on the evaluation of suspected disorders of sexual development: emphasizing the opportunity to predict adolescent pubertal failure through a neonatal diagnosis of absent minipuberty. Clinical Endocrinology 2017, 86(2), 305-306.
• Macauley M, Quinton R. To the Editor [Letter]. Menopause -The Journal of the North American Menopause Society 2017, 24(2), 232-232.
• Mamoojee Y, Seal LJ, Quinton R. Transgender hormone therapy: understanding international variation in practice. The Lancet Diabetes and Endocrinology 2017, 5(4), 243-246.
• Howard SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell LA, Sternberg MJE, Cabrera CP, Warren HR, Barnes MR, Quinton R, de Roux N, Young J, Guiochon-Mantel A, Wehkalampi K, Andre V, Gothilf Y, Cariboni A, Dunkel L. IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty. EMBO Molecular Medicine 2016, 8(6), 626-642.
• Hughes AJ, Steele HE, Pyle A, Hart Y, Quinton R, Chinnery PF. A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems. JAMA Neurology 2016, 73(12), 1494-1495.
• Bonomi M, Quinton R. Congenital GnRH deficiency: a complex and genetically heterogeneous disease affecting human fertility and sexual development. Minerva Endocrinologica 2016, 41(2), 183-187.
• Dwyer AA, Jayasena CN, Quinton R. Congenital hypogonadotropic hypogonadism: implications of absent mini-puberty. Minerva Endocrinologica 2016, 41(2), 188-195.
• Gan EH, Quinton R. Have the Testosterone Trials demonstrated the effectiveness of testosterone therapy in older men without classical hypogonadism?. Journal of the Royal College of Physicians of Edinburgh 2016, 46(3), 168-171.
• Lois KB, Santhakumar A, Vaikkakara S, Mathew S, Long A, Johnson SJ, Peaston R, Neely RDG, Richardson DL, Graham J, Lennard TWJ, Bliss R, Miller M, Ball SG, Pearce SHS, Woods DR, Quinton R. Phaeochromocytoma and ACTH-dependent cushing's syndrome: tumour crf secretion can mimic pituitary cushing's disease. Clinical Endocrinology 2016, 84(2), 177-184.
• Maggi M, Wu FCW, Jones TH, Jackson G, Behre HM, Hackett G, Martin-Morales A, Balercia G, Dobs AS, Arver STE, Maggio M, Cunningham GR, Isidori AM, Quinton R, Wheaton OA, Siami FS, Rosen RC, RHYME Investigators. Testosterone treatment is not associated with increased risk of adverse cardiovascular events: results from the Registry of Hypogonadism in Men (RHYME). International Journal of Clinical Practice 2016, 70(10), 843-852.
• Gan EH, Bouloux PM, Quinton R. Unexpectedly prolonged washout period of exogenous testosterone after discontinuation of intramuscular testosterone undecanoate depot injection (Nebido® or Reandron®) in men with congenital hypogonadotrophic hypogonadism. Clinical Endocrinology 2016, 84(6), 947-950.
• Choi JH, Balasubramanian R, Lee PH, Shaw ND, Hall JE, Plummer L, Buck CL, Kottler ML, Jarzabek K, Wolczynski S, Quinton R, Latronico AC, Dode C, Ogata T, Kim HG, Layman LC, Gusella JF, Crowley WF. Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency. Journal of Clinical Endocrinology & Metabolism 2015, 100(10), E1378-E1385.
• Boehm U, Bouloux PM, Dattani MT, de Roux N, Dode C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, Maghnie M, Pitteloud N, Prevot V, Raivio T, Tena-Sempere M, Quinton R, Young J. Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment. Nature Reviews Endocrinology 2015, 11(9), 547-564.
• Renukanthan A, Quinton R, Turner B, MacCallum P, Seal L, Davies A, Green R, Evanson J, Korbonits M. Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia. Endocrine 2015, 50(2), 496-503.
• Karavolos S, Reynolds M, Panagiotopoulou N, McEleny K, Scally M, Quinton R. Male central hypogonadism secondary to exogenous androgens: a review of the drugs and protocols highlighted by the online community of users for prevention and/or mitigation of adverse effects. Clinical Endocrinology 2015, 82(5), 624-632.
• Dwyer AA, Quinton R, Pitteloud N, Morin D. Psychosexual Development in Men with Congenital Hypogonadotropic Hypogonadism on Long-Term Treatment: A Mixed Methods Study. Sexual Medicine 2015, 3(1), 32-41.
• Quinton R. Risks of Sex Hormone Therapy in Women: Important Lessons from the Transgender Woman Literature. Southern Medical Journal 2015, 108(4), 242.
• Sayers J, Hynes AM, Srivastava S, Dowen F, Quinton R, Datta HK, Sayer JA. Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole. Clinical Kidney Journal 2015, 8(4), 453-455.
• Hill NE, Woods DR, Delves SK, Murphy KG, Davison AS, Brett SJ, Quinton R, Turner S, Stacey M, Allsopp AJ, Fallowfield JL. The gonadotrophic response of Royal Marines during an operational deployment in Afghanistan. Andrology 2015, 3(2), 293-297.
• Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF. Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency. Proceedings of the National Academy of Sciences of the United States of America 2014, 111(50), 17953-17958.
• Dwyer AA, Quinton R, Morin D, Pitteloud N. Identifying the unmet health needs of patients with congenital hypogonadotropic hypogonadism using a web-based needs assessment: implications for online interventions and peer-to-peer support. Orphanet Journal of Rare Diseases 2014, 9, 83.
• Robinson J, Richardson M, Hickey J, James A, Pearce SH, Ball SG, Quinton R, Morris M, Miller M, Perros P. Patient Knowledge of Antithyroid Drug-Induced Agranulocytosis. European Thyroid Journal 2014, 3(4), 245-251.
• Santhakumar A, Miller M, Quinton R. Pubertal induction in adult males with isolated hypogonadotropic hypogonadism using long-acting intramuscular testosterone undecanoate 1-g depot (Nebido^®). Clinical Endocrinology 2014, 80(1), 155-157.
• Bukowczan J, Pattman S, Jenkinson F, Quinton R. Regan isoenzyme of alkaline phosphatase as a tumour marker for renal cell carcinoma. Annals of Clinical Biochemistry 2014, 51(5), 611-614.
• Gan EH, MacArthur K, Mitchell AL, Hughes BA, Perros P, Ball SG, James RA, Quinton R, Chen S, Furmaniak J, Arlt W, Pearce SHS. Residual Adrenal Function in Autoimmune Addison's Disease: Improvement After Tetracosactide (ACTH_1-24) Treatment. Journal of Clinical Endocrinology and Metabolism 2014, 99(1), 111-118.
• Sidhoum VF, Chan YM, Lippincott MF, Balasubramanian R, Quinton R, Plummer L, Dwyer A, Pitteloud N, Hayes FJ, Hall JE, Martin KA, Boepple PA, Seminara SB. Reversal and Relapse of Hypogonadotropic Hypogonadism: Resilience and Fragility of the Reproductive Neuroendocrine System. Journal of Clinical Endocrinology and Metabolism 2014, 99(3), 861-870.
• Santhakumar A, Balasubramanian R, Miller M, Quinton R. Reversal of isolated hypogonadotropic hypogonadism: long-term integrity of hypothalamo-pituitary-testicular axis in two men is dependent on intermittent androgen exposure. Clinical Endocrinology 2014, 81(3), 473-476.
• Mitchell AL, Napier C, Asam M, Siddaramaiah N, Heed A, Morris M, Miller M, Perros P, James RA, Ball SG, Pearce SHS, Quinton R. Saving lives of in-patients with adrenal insufficiency: implementation of an alert scheme within the Newcastle-upon-Tyne Hospitals e-Prescribing platform. Clinical Endrocrinology 2014, 81(6), 937-938.
• Dunkel L, Quinton R. Transition in Endocrinology: Induction of puberty. European Journal of Endocrinology 2014, 170(6), R229-R239.
• Quinton R. Diabetes control in older: The usefulness of metformin for diabetes control in older people. BMJ 2013, 346, f3077.
• Woods DR, Phillip R, Quinton R. Managing endocrine dysfunction following blast injury to the male external genitalia. Journal of the Royal Army Medical Corps 2013, 159(suppl.1), i45-i48.
• Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng BH, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism. American Journal of Human Genetics 2013, 92(5), 725-743.
• Costa-Barbosa FA, Balasubramanian R, Keefe KW, Shaw ND, Al-Tassan N, Plummer L, Dwyer AA, Buck CL, Choi JH, Seminara SB, Quinton R, Monies D, Meyer B, Hall JE, Pitteloud N, Crowley WF. Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes. Journal of Clinical Endocrinology and Metabolism 2013, 98(5), E943-E953.
• Smith N, Quinton R. A patient's journey: Kallmann syndrome. BMJ 2012, 345, e6971.
• Horton E, Wright R, Barbosa FC, Plummer L, Kaina J, Buck C, Jiang N, Quinton R, Crowley WF, Balasubramanian R. Low Spinal Bone Mineral Density in Men with Isolated GNRH Deficiency is related to the Degree of Pubertal Activation of Hypothalamo-Pituitary-Conadal Axis. In: 2012 Eastern Regional Meeting. 2012, Washington, DC, USA: Lippincott Williams & Wilkins.
• Gan EH, Pattman S, Pearce S, Quinton R. Many men are receiving unnecessary testosterone prescriptions. BMJ 2012, 345, e5469.
• Lavender TW, Martineau AR, Quinton R, Schwab U. Severe hypercalcaemia following vitamin D replacement for tuberculosis-associated hypovitaminosis D. International Journal of Tuberculosis and Lung Disease 2012, 16(1), 140-140.
• Quinton R. Where specialist diabetes teams can be found. British Medical Journal 2012, 344, e3854.
• Feng B, Chung WC, Au MG, Plummer L, Dwyer A, Quinton R, Seminara SB, Chenoine JP, Sykiotis GP, Sidis Y, Tsai P, Pitteloud N. SEF Is a Novel Locus for GnRH Deficiency. In: ENDOCRINE REVIEWS. 2010, 8401 CONNECTICUT AVE, SUITE 900, CHEVY CHASE, MD 20815-5817 USA: ENDOCRINE SOC.
• Sievenpiper JL, McIntyre EA, Verrill M, Quinton R, Pearce SHS. Unrecognised severe vitamin D deficiency. BRITISH MEDICAL JOURNAL 2008, 336(7657), 1371-1374.