Newcastle University

Roles and Responsibilities

Consultant Endocrinologist, Newcastle upon Tyne Hospitals NHS Foundation Trust

Research Interests

Idiopathic hypogonadotrophic hypogonadism (IHH)

Idiopathic hypogonadotrophic hypogonadism (IHH) is a genetically heterogeneous condition resulting from deficiency (or less commonly resistance to the action) of hypothalamic gonadotrophin-releasing hormone (GnRH). It affects around 1-in-4000 males together with a smaller proportion of females. Affected individuals typically fail to enter puberty and are infertile without specialist endocrine care. Around 50% of IHH patients lack a sense of smell. Other associations include mirror movements, absence of a kidney, deafness, cleft lip/palate and dental anomalies. Although IHH is a relatively rare and non-lethal disease, it constitutes a crucial “experiment of nature” with the potential to provide important insights into the developmental biology of human reproduction and, to some extent, also of the skeleton and nervous system.

A novel clinical observation first made by our group, and subsequently investigated in greater detail as part of the same transatlantic collaboration, has been that up to 10% of IHH men undergo spontaneous maturation of the gonadotroph axis in later life, such that they become independent of testosterone replacement and can exhibit normal fertility. This phenomenon of “IHH reversal” seems to require a period of exposure to exogenous androgens and evidenced greater than anticipated plasticity in the neuroendocrine control of the human reproductive axis.

The genetics of IHH remains only partly elucidated and we have contributed substantially to the international consortium investigating this by means of a candidate gene approach. We also maintain a very close relationship with the international web-based IHH patient support group, with mutually beneficial results. Patients and their families are able to stay in touch with research progress and they, in turn, have been extremely helpful to us by volunteering to participate in genetic research. Our group recently co-authored the first published account of IHH resulting from heterozygous mutations in two separate genes (FGFR1 and NELF). We hypothesise that the guidance molecule encoded by the NELF gene exerts a significant modulatory role in establishing a mature gonadotrophic axis.

We have recently established an immortalised human GnRH-secreting neuroblast cell line (TERFB4) in culture that, following transfection with a GnRH-luciferase reporter plasmid, we hope will provide an important vehicle for modelling genetic and environmental influences on GnRH secretion.

Co-workers:

Katie MacArthur BSc
Research Technician

Simon Pearce MD FRCP
Professor of Endocrinology, Honorary Consultant Physician

• 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.
• 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.
• 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.
• 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, 2001-10. Clinical Endocrinology 2013, (epub ahead of print).
• 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.
• 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.
• 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.