Prof Mehul Dattani

Prof Mehul DattaniTel: 020 3447 9445
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University College Hospital

Children and young people's endocrinology, Children and young people's services

Professional background

Professor Mehul Dattani was awarded a personal chair as Professor of Paediatric Endocrinology based at the UCL Institute of Child Health in 2006. He is currently Head of Paediatric Endocrinology at Great Ormond Street Hospital for Children (GOSH), University College London Hospitals and ICH, and has an active clinical practice encompassing all areas of paediatric and adolescent Endocrinology at GOSH and University College London Hospitals (UCLH).

Professor Dattani qualified in Medicine at the Middlesex Hospital, London. He trained in paediatric endocrinology and was awarded an MD at UCL for his work on the optimization of a novel bioassay for the estimation of serum growth hormone (GH). Subsequently, he was appointed as a Lecturer in Paediatric Endocrinology at the Institute of Child Health. He was seconded to the MRC National Institute of Medical Research, Mill Hill, where he studied the role of the transcription factor HESX1 in human disease, and linked it to a condition that affects the forebrain, eyes and the pituitary, known as Septo-Optic Dysplasia (SOD). This work was performed in the laboratories of Dr. Rosa Beddington and Professor Iain Robinson at the NIMR. Over the last ten years, Professor Dattani has established a laboratory group investigating the role of transcription factors in hypothalamo-pituitary disease at ICH. He has identified mutations in a number of known and novel genes implicated in pituitary development, and his work has been recognised nationally and internationally. His research has led to publications in a number of high impact journals. He was the recipient of a prestigious Career Establishment Grant from the MRC in 1999. He has received funding from the Medical Research Council, the Wellcome Trust, the Child Growth Foundation and the Child Health Research Appeal Trust. Additionally, he has been invited to speak at a number of national and international meetings, and has also received national and international awards for the work, including the Donald Paterson prize awarded by the Royal College of Paediatrics and Child Health and the Henning Andersen prize awarded by the European Society for Paediatric Endocrinology. He has established collaborations with a number of national and international groups, including the National Institute for Medical Research at Mill Hill. Professor Dattani’s research group is currently studying pituitary development in humans, with a view to identifying novel genes implicated in the aetiology of congenital hypopituitarism and related disorders. Additionally, he is studying the phenotypes of children with hypopituitarism in greater detail with a view to eventually investigating possible genotype-phenotype correlations.

As a Consultant in Paediatric Endocrinology at GOSH and at UCLH, as well as at a number of national and international (Dubai, Malta) outreach clinics, he has established a large clinical practice of children with various disorders of hypothalamo-pituitary development as well as other endocrine disorders with a genetic basis to their aetiology. He has successfully supervised a number of MD and PhD students, several post-doctoral fellows, Specialist Registrars, medical students and visiting clinicians. He is an Examiner to the Royal College of Paediatrics and Child Health. Professor Dattani has also taken the lead in developing Endocrine protocols for use at GOSH and UCLH. He has developed a structured teaching programme for junior staff at GOSH and UCLH, and organizes Pan-London Endocrine Group meetings. He has been appointed as a member of the MRC College of Experts, and is also on the Editorial Board of a number of Endocrinology journals including the Journal of Clinical Endocrinology and Metabolism. He has recently been appointed to the Advisory Board of a new journal launched by the Company of Biologists, Disease Models and Mechanisms.

Research interests

  • General Paediatric Endocrinology
  • Combined pituitary hormone deficiency
  • Seto-optic dysplasia and related disorders
  • Disorders of growth
  • Disorders of sex development
  • Adrenal disorders
  • Thyroid disorders


1. Dattani MT, Hindmarsh PC, Brook CGD, Robinson ICAF, Kopchick JJ, Marshall NJ (1995) G120R, a human growth hormone antagonist, shows zinc-dependent agonist and antagonist activity on Nb2 cells. Journal of Biological Chemistry 270:9222-9226.

2. Dattani MT, Hindmarsh PC, Pringle PJ, Brook CGD, Marshall NJ (1995) The measurement of GH bioactivity in patient serum using an eluted stain assay (ESTA). Journal of Clinical Endocrinology and Metabolism 80:2675-2683.

3. Dattani MT, Winrow AP, Tuil'Pakov A, Pringle PJ, Hindmarsh PC, Brook CGD, Marshall NJ (1996) Evaluation of GH responses to pulsed GHRH administration using the MTT-ESTA bioassay. European Journal of Endocrinology 135:87-95.

4. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JB, Gupta R, Martensson I, Toresson H, Fox M, Wales JKH, Hindmarsh PC, Krauss S, Beddington RSP, Robinson ICAF (1998) Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nature Genetics 19(2): 125-133.

5. Thomas PQ, Dattani MT, Brickman JM, McNay D, Warne G, Zacharin M, Cameron F, Hurst J, Woods K, Dunger D, Stanhope R, Forrest S, Robinson ICAF, Beddington RSP (2001) Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Human Molecular Genetics 10:39-45.

6. Brickman JM, Clements M, Tyrell R, McNay D, Woods K, Warner J, Stewart A, Beddington RSP, Dattani MT (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders. Development 128:5189-5199.

7. Mongan NP, Jaaskelainen J, Green K, Schwabe JW, Shimura N, Dattani MT, Hughes IA (2002) Two de novo mutations in the androgen receptor gene cause the complete androgen insensitivity syndrome in a pair of twins. Journal of Clinical Endocrinology and Metabolism 87 (3): 1057-1061.

8. Carvalho LR, Woods KS, Mendonca BB, Marcal N, Zamparini AL, Stifani S, Brickman JM, Arnhold IJP, Dattani MT (2003) A homozygous mutation (I26T) in the engrailed homology domain of HESX1 associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. Journal of Clinical Investigation 112 (8):1192-1201.

9. Jackson RS, Creemers JWM, Farooqi IS, Raffin-Sanson M, Varro A, Dockray GJ, Holst JJ, Brubaker PL, Corvol P, Polonsky KS, Ostrega D, Becker KL, Bertagna S, Hutton JC, White A, Dattani MT, Hussain K, Middleton S, Nicholl TM, Lindley KJ, O’Rahilly S (2003) Severe small intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. Journal of Clinical Investigation 112 (10):1550-1560.

10. Mehta A, Hindmarsh PC, Stanhope RG, Brain CE, Preece MA, Dattani MT (2003) Is the thyrotrophin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children? Journal of Clinical Endocrinology and Metabolism 88 (12): 5696-5703.

11. Dattani MT, Preece MA (2004) Growth Hormone Deficiency and related disorders: insights into aetiology, diagnosis and treatment. Lancet 363: 1977-1987.

12. Mehta A, Viner R, Christie D, Newson T, Dattani MT  (2004) An unusual case of an atypical eating disorder masquerading as a serious multi-systemic illness. Acta Paediatrica 93(5):714-716.

13. Metherell LA, Savage MO, Dattani MT, Walker J, Clayton PE, Clark AJL (2004) Absence of TPIT (Tbx19) gene mutations in most patients with isolated ACTH deficiency. European Journal of Endocrinology 151(4):463-465.

14. Mehta A, Hindmarsh PC, Dattani MT (2005) An update on the biochemical diagnosis of congenital ACTH insufficiency. Clinical Endocrinology 62(3):307-314.

15. Turton J, Mehta AM, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Enice M, Ammini AC, Bouloux PM, Starzyk J, Hindmarsh PC, Dattani MT (2005) Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic Combined Pituitary Hormone Deficiency (CPHD). Clinical Endocrinology (Oxf). 63(1):10-8.

16. Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson ICAF, Lovell-Badge R, Woodward KJ, Dattani MT (2005) Over- and under-dosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. American Journal of Human Genetics 76(5):833-49.

17. Turton JPG, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT (2005) Novel mutations within the POU1F1 gene associated with variable Combined Pituitary Hormone Deficiency (CPHD) J Clin Endocrinology Metabolism 90(8):4762-70.

18. Dattani MT Growth Hormone Deficiency and Combined Pituitary Hormone Deficiency: Does the Genotype matter? (2005) Clinical Endocrinology (Oxf). 63(2):121-30.

19. Mehta A, Hindmarsh PC, Stanhope RG, Turton JPG, Cole TJ, Preece MA, Dattani MT (2005) The role of Growth Hormone in determining Birth Size and early Postnatal Growth, using Congenital Growth Hormone Deficiency (GHD) as a model. Clinical Endocrinology (Oxf). 63(2):223-31.

20. Hindmarsh PC, Dattani MT (2006) Use of growth hormone in children. Nat Clin Pract Endocrinol Metab 2(5): 260-268.

21. Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT (2006) Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest 116 (9):2442-2455.

22. Turton JPG, Buchanan CR, Robinson ICAF, Aylwin SJB, Dattani MT (2006) Evolution of gonadotropin deficiency in a patient with Type II autosomal dominant growth hormone deficiency. European Journal of Endocrinology 155(6): 793-799.

23. Kelberman D, Dattani MT (2006) The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. Annals of Medicine 38 (8): 560-577.

24. Lin L, Hindmarsh PC, Metherell LA, Alzyoud M, Al-Ali M, Brain CE, Clark AJL, Dattani MT, Achermann JC (2007) Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found inpatients with salt-losing adrenal hypoplasia. Clinical Endocrinology 66(2): 205-210.

25. McNay DEG, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Hauf N, Krude H, Shalet SM, Dattani MT (2007) HESX1 mutations are an uncommon cause of septo-optic dysplasia and hypopituitarism. J Clin Endocrinology and Metabolism 92 (2): 691-697.

26. Lin L, Ercan O, Raza J, Burren CP, Creighton SM, Auchus RJ, Dattani MT, Achermann JC (2007) Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J Clin Endocrinology and Metabolism 92 (3): 982-990.

27. Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JA, Sultan C, Dattani MT, Achermann JA (2007) Heterozygous missense mutations in steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) are associated with 46 XY disorders of sex development with normal adrenal function. J Clin Endocrinology and Metabolism 92 (3): 991-999.

28. Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG, Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V, Perna F, Fontana S, Barroso I, Undlien DE, O’Rahilly S (2007) Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med 356 (3): 237-247.

29. Andoniadou CL, Signore M, Sajedi E, Gaston-Massuet  C, Kelberman D, Burns AJ, Itasaki N, Dattani M, Martinez-Barbera JP (2007) Lack of the murine homeobox gene Hesx1 leads to posterior transformation of the anterior forebrain. Development 134 (8): 1499-1508.

30. Vallette-Kasic S, Couture S, Balsalobre A, Gauthier Y, Metherell L, Dattani M, Drouin J (2007) The TPIT gene mutation M86R associated with isolated ACTH deficiency interferes with protein: protein interactions. J Clin Endocrinol Metab 92(10): 3991-3999.

31. Petkovic V, Lochmatter D, Turton J, Clayton PE, Trainer PJ, Dattani MT, Eble A, Robinson IC, Fluck C, Mullis PE (2007) Exon splice enhancer mutation (GH-E32A) causes autosomal dominant GH deficiency. J Clin Endocrinol Metab 92(11): 4427-4435.

32. Sajedi E, Gaston-Massuet C, Andoniadou CL, Signore M, Hurd PJ, Dattani M, Martinez-Barbera JP (2008) DNMT1 interacts with the developmental transcriptional repressor HESX1. Biochim Biophys Acta 1783 (1): 131-143.

33. Raz B, Janner M, Petkovic V, Lochmatter D, Eble A, Dattani MT, Hindmarsh PC, Fluck CE, Mullis PE (2008) Influence of growth hormone receptor d3 and full length isoforms on growth hormone response and final height in patients with severe growth hormone deficiency. J Clin Endocrinol Metab 93(3): 974-980.

34. Fauquier T, Rizzoti K, Dattani M, Lovell-Badge R, Robinson ICAF (2008) A Sox2-expressing progenitor cell generates all the major cell types in the adult mouse pituitary gland. Proceedings of the National Academy of Sciences USA 105(8): 2907-2912.

35. Al-Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani MT (2008) A new autosomal recessive syndrome of ocular colobomas, icthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. American J of Medical Genetics 146 (7):813-819.

36. Kelberman D, de Castro SCP, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, Cavallo L, Faienza MF, Fischetto R, Achermann JC, Martinez-Barbera JP, Rizzoti K, Lovell-Badge R, Robinson ICAF, Gerrelli D, Dattani MT 2008 SOX2 plays a critical role in the development of the pituitary, forebrain and eye during human embryonic development. J Clin Endocrinol Metab 93(5): 1865-1873.

37. Rajab A, Kelberman D, de Castro SC, Biebermann H, Shaikh H, Pearce K, Hall CM, Shaikh G, Gerrelli D, Grueters A, Krude H, Dattani MT 2008 Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. Human Molecular Genetics 17(14): 2150-9.

38. Kelberman D, Turton J, Woods K, Mehta A, Al-Khawari M, Greening J, Swift P, Otonkoski T, Rhodes S, Dattani M  2009 Molecular analysis of novel PROP1 mutations associated with Combined Pituitary Hormone Deficiency. Clinical Endocrinology 70(1): 96-103.

39.  Deeb A, Jaaskelainen J, Dattani M, Whitaker HC, Costigan C, Hughes IA 2008 A novel mutation in the human androgen receptor suggests a regulatory role for the hinge region in amino-terminal and carboxy-terminal interactions. Journal of Clinical Endocrinology and Metabolism 93(10): 3691-3696.

40. Segal TY, Mehta A, Anazodu A, Hindmarsh PC, Dattani MT 2009 Role of GnRH and HCG stimulation tests in differentiating patients with hypogonadotropic hypogonadism [HH] from those with Constitutional Delay of Growth and Puberty [CDGP] Journal of Clinical Endocrinology and Metabolism 94(3): 780-785.

41. Sajedi E, Gaston-Massuet C, Signore M, Andoniadou CL, Kelberman D, Castro S, Etchevers HC, Gerrelli D, Dattani MT, Martinez-Barbera JP 2008 Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. Disease Models and Mechanisms 1(4-5): 241-254.

42. Alatzoglou KS, Kelberman D, Dattani MT 2009 Role of Sox/SOX proteins in normal pituitary development. Journal of Endocrinology 200(3): 245-258.

43. de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI 2009 A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. Human Molecular Genetics 18(17): 3257-3265.

44. Padidela R, Kelberman D, Press M, Al-Khawari M, Hindmarsh PC, Dattani MT 2009 Mutation in the TBCE gene is associated with Hypoparathyroidism-Retardation-Dysmorphism syndrome featuring pituitary hormone deficiencies and hypoplasia of the anterior pituitary and the corpus callosum. J Clin Endocrinol Metab 94(8): 2686-2691.

45. Mehta A, Hindmarsh PC, Mehta H, Turton JP, Russell-Eggitt I, Taylor D, Chong WK, Dattani MT 2009 Congenital hypopituitarism: clinical, molecular and neuroradiological correlates. Clinical Endocrinology 70(1): 96-103.

46. Alatzoglou KS, Turton J, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel T, Trainer P, Savage MO, Raza J, Banerjee K, Sinha S, Ten S, Mushtaq T, Brauner R, Cheetham T, Hindmarsh PC, Mullis PE, Dattani MT 2009 Expanding the spectrum of mutations in GH1 and GHRHR: Genetic screening in a large cohort of patients with Congenital Isolated Growth Hormone Deficiency (IGHD). J Clin Endocrinol Metab 94(9): 3191-3199.

47. Alatzoglou KS, Hindmarsh PC, Brain C, Torpiano J, Dattani MT 2009 Acanthosis Nigricans and Insulin Sensitivity in patients with Achondroplasia and Hypochondroplasia due to FGFR3 mutations. J Clin Endocrinol Metab 94(10): 3959-3963.

48. Webb E, Dattani MT 2009 Septo-optic dysplasia. European Journal of Human Genetics (in press).

49. Kelberman D, Rizzoti K, Lovell-Badge R, Robinson ICAF, Dattani MT 2009 Genetic Regulation of pituitary gland development in human and mouse. Endocrine Reviews 30(7): 790-829.

50. Petkovic V, Godi M, Pandey AV, Lochmatter D, Buchanan CR, Dattani MT, Eble A, Fluck CE, Mullis PE 2009 Growth hormone (GH) deficiency Type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action. J Clin Endocrinol Metab (in press).

GMC/GDC number: 2942717