Photo of Professor Mehul Dattani

Professor Mehul Dattani

Telephone:

Email:

Location:

  • University College Hospital

GMC/GDC number:

2942717

Professional background

Mehul Dattani is professor of paediatric endocrinology based at the University College London (UCL) Great Ormond Street Institute of Child Health, and specialty lead in endocrinology at Great Ormond Street Hospital for Children (GOSH). 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 endocrine disorders, including those 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 a senior examiner to the Royal College of Paediatrics and Child Health.

Professor Dattani completed a three-year term as Chair of the British Society for Paediatric Endocrinology and Diabetes, followed by a seven-year term as Chair of the Programme Organising Committee and member of the Council of the European Society for Paediatric Endocrinology (ESPE). He is the currently the President of the European Society for Paediatric Endocrinology for 2020. He has also been appointed co-Chair of the Pituitary Main Thematic Group of the ENDO-ERN initiative.

Professor Dattani has established a laboratory group investigating the molecular basis of hypothalamo-pituitary disease at UCL. He has identified novel genes implicated in hypothalamo-pituitary development in patients with congenital hypopituitarism, and more recently has worked on understanding the molecular basis of a paediatric brain tumour called adamantinomatous craniopharyngioma. He has more than 250 publications including original articles and scholarly reviews in a number of high impact journals, as well as book chapters. He sits on numerous advisory boards and editorial boards of journals. He has previously received the ESPE Henning Andersen and RCPCH Donald Paterson awards for his scientific work. He has co-authored three textbooks to date, including the 7th Edition of Brook’s Clinical Paediatric Endocrinology.

Specialties

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

Publications

1. Savage MO, Dattani MT, Perry LA, Donaldson MC, Grant DB, Hughes IA, Brook CGD, Chaussain JL (1995) Clinical spectrum, endocrine characteristics and aspects of therapy in patients with 5-alpha reductase deficiency. In: Les ambiguites sexuelles. Ed. JL Chaussain, IU Roger, Publi-fusion, Cahors pp. 19-28.

2. Dattani MT, Preece MA Physical Growth and Development (1998) In: Forfar and Arneil's Textbook of Paediatrics, 5th edition. pp. 349-380. Churchill Livingstone, London.

3. Dattani MT, Brook CGD Precocious puberty (1998). In: Estrogens and Progestogens in Clinical Practice, 1st edition pp. 495-507. Churchill Livingstone International.

4. Dattani MT The measurement of growth hormone (1999) In: Growth hormone therapy in KIGS: 10 years experience pp. 43-53. Johann Ambrosius Barth Verlag, Leipzig.

5. Dattani MT, Brook CGD Adolescent Health Problems (2000). In: Harrison’s Principles of Internal Medicine 15th edition pp.31-36. Ed. Braunwald E, Hauser SL, Fauci AS, Kasper DL, Longo DL, Jameson JL McGraw-Hill.

6. Dattani MT Tests in Paediatric Endocrinology (2001) In: Clinical Paediatric Endocrinology 4th edition pp. 467-495 Ed. CGD Brook, PC Hindmarsh Blackwell Science Limited.

7. Dattani MT Septo-optic dysplasia and associated brain malformations (2001) In: Endocrine Development: Hypothalamo-pituitary development, pp. 77-93, Ed: R. Rappaport, S. Amselem, Karger.

8. Dattani MT, Hindmarsh PC Premature sexual maturation (2003) In: Oxford Textbook of Endocrinology and Diabetes pp 1046-1063, Ed: S. Shalet, JAH Wass Oxford University Press.

9. Woods K, Dattani MT Transcription factors involved in disorders of forebrain and pituitary development (2003) In: Molecular Basis of Inborn Errors of Development pp. 540-551, Ed. C Epstein, R Erickson, A Wynshaw-Boris, Oxford University Press.

10. Dattani MT, Hindmarsh PC Growth hormone deficiency in children (2005) In: DeGroot’s Endocrinology 5th edition pp. 733-754, Ed. S Melmed, Elsevier, New York.

11. Dattani MT, Hindmarsh PC Normal and abnormal puberty (2005) In: Clinical Paediatric Endocrinology 5th edition pp. 183-210, Eds Brook CGD, Brown R and Clayton PE, Blackwell Science, Oxford.

12. Mehta A, Dattani MT Congenital Disorders of the hypothalamo-pituitary axis (2005) In: Clinical Paediatric Endocrinology 5th edition pp. 67-89, Eds Brook CGD, Brown R and Clayton PE, Blackwell Science, Oxford.

13. Dattani MT, Grant D, Baumer H, Mallam K, Brook CGD Endocrinology (2007) In: The Great Ormond Street Colour Handbook of Paediatrics and Child Health, Ed. Strobel S, Marks S, Smith PK, El Habbal MH, Spitz L, Manson Publishing Ltd.

14. Dattani MT, Gevers E, Hindmarsh PC Growth and growth factors (2007) In: Yearbook of Paediatric Endocrinology 2007, Ed. JC Carel, Z Hochberg, Karger.

15. Kelberman D, Dattani MT Transcription factors involved in disorders of forebrain and pituitary development (2008) In: Molecular Basis of Inborn Errors of Development, Ed. C Epstein, R Erickson, A Wynshaw-Boris, Oxford University Press.

16. Kelberman D, Dattani MT SOX3 and infundibular hypoplasia (2008) In: Molecular Basis of Inborn Errors of Development, Ed. C Epstein, R Erickson, A Wynshaw-Boris, Oxford University Press.

17. Gevers E, Dattani MT Growth and growth factors (2008) In: Yearbook of Paediatric Endocrinology 2008, Ed. JC Carel, Z Hochberg, Karger.

18. Mehta A, Gevers E, Dattani MT Congenital Disorders of the hypothalamo-pituitary axis (2009) In: Clinical Paediatric Endocrinology 6th edition Eds Brook CGD, Brown R and Clayton PE, Blackwell Science, Oxford.

19. Alatzoglou KS, Dattani MT Acquired Disorders of the hypothalamo-pituitary axis (2009) In: Clinical Paediatric Endocrinology 6th edition Eds Brook CGD, Brown R and Clayton PE, Blackwell Science, Oxford.

20. Dattani MT, Tziaferi V, Hindmarsh PC Normal and abnormal puberty (2009) In: Clinical Paediatric Endocrinology 6th edition Eds Brook CGD, Brown R and Clayton PE, Blackwell Science, Oxford.

21. Gevers E, Dattani MT Growth and growth factors (2009) In: Yearbook of Paediatric Endocrinology 2009, Ed. JC Carel, Z Hochberg, Karger.

22. Dattani MT, Hindmarsh PC Growth hormone deficiency in children (2011) In: DeGroot’s Endocrinology 6th edition Ed. S Melmed, Elsevier, New York.

23. Webb E, Dattani MT In: Diagnosis of growth hormone deficiency (2010) In: Current Indications for Growth Hormone Therapy 2nd Edition, Endocrine Development 18: 55-66 Ed. PC Hindmarsh

24. Martinez-Aguayo, A, Dattani MT, Achermann JC (2010) Gonadotropin hormones: Disorders Encyclopedia of Life Sciences

25. Gevers E, Dattani MT Growth and growth factors (2010) In: Yearbook of Paediatric Endocrinology 2010, Ed. JC Carel, Z Hochberg, Karger.

26. Dattani MT, Fisher D, Hindmarsh PC Neonatal Endocrinology (2011) In: Williams Textbook of Endocrinology, Ed. S Melmed,

27. Alatzoglou KS, Dattani MT (2011) In: Oxford Textbook of Endocrinology and Diabetes 2nd edition Ed: JAH Wass Oxford University Press.

28. Gevers E, Dattani MT Growth and growth factors (2011) In: Yearbook of Paediatric Endocrinology 2011, Ed. JC Carel, Z Hochberg, Karger.

29. Tziaferi V, Dattani MT (2011) Embryology, Anatomy and Physiology of the Pituitary gland In: Endocrine Surgery in Children, Ed. Daniel Ledbetter and Paul Johnson.Springer Press.

30. Gevers E, Gaston-Massuet C, Dattani MT Growth and growth factors (2012) In: Yearbook of Paediatric Endocrinology 2012, Ed. K Ong, Z Hochberg, Karger.

31. Bancaleri R, Gregory L, McCabe M, Dattani MT (2012) Pituitary Development: An Update. In: Endocrine Development 23:1-15 Ed. PE Mullis

32. Gevers E, Gaston-Massuet C, Dattani MT Growth and growth factors (2013) In: Yearbook of Paediatric Endocrinology 2013, Ed. K Ong, Z Hochberg, Karger.

33. McCabe MJ, Dattani MT Genetic aspects of hypothalamic and pituitary gland development (2013) In: Clinical Neuroendocrinology, Ed. M. Korbonitz, E. Fliers, JA Romijn Elsevier Science Publishers

34. Backeljauw PF, Dattani MT, Rosenfeld R, Cohen P Disorders of Growth Hormone/Insulin-Like Growth Factor Secretion and Action (2013) In: Pediatric Endocrinology, Ed. MJ Sperling

35. Peters CJ, Dattani MT Endocrinology (2013) In: GOSH Handbook of Paediatrics and Child Health

36. Miller B, Frohnert B, Dattani MT Pituitary and Hypothalamus (2013) In: Pediatric Endocrinology and Inborn Errors of Metabolism Ed. K Sarafoglou, Hoffman G, Roth K

37. Alatzoglou KS, Kelberman D, Dattani MT SOX3 and Infundibular Hypoplasia (2014) In: Epstein’s Inborn Errors of Development, Eds. RP Erickson, A. Wynshaw-Boris

38. Kelberman D, Dattani MT EMX2 and HESX1 and Type I Schizencephaly and Septo-Optic Dysplasia (2014) In: Epstein’s Inborn Errors of Development, Eds. RP Erickson, A. Wynshaw-Boris

39. Alatzoglou KS, Dattani MT Growth Hormone Deficiency in Childhood (2014) In: Jameson/De Groot Endocrinology Adult and Pediatric 7th Edition.

40. Gevers E, Fisher D, Dattani MT Fetal and Neonatal Endocrinology (2014) In: Jameson/De Groot Endocrinology Adult and Pediatric 7th Edition.

41. Gevers E, Dattani MT Endocrinology of Fetal Development (2015) In: Williams Textbook of Endocrinology 13th Edition.

42. Gan HW, Spoudeas H, Dattani MT Endocrine Deficits in Human Craniopharyngioma (2017) In: Basic Research and Clinical Aspects of Adamantinomatous Craniopharyngioma, Eds. C Andoniadou, JP Martinez-Barbera.

43. Frohnert BI, Miller BS, Dattani MT Developmental Disorders of the Anterior Pituitary (2017) In: Essential Paediatric Endocrinology and Metabolism, Eds. K. Sarafoglou.

44. Gregory L, Dattani MT Development of the Pituitary and Genetic forms of Hypopituitarism (2018) In: Oxford Textbook of Endocrinology and Diabetes, Ed. John Wass

45. Gan HW, Cerbone M, Dattani MT Hypothalamic dysfunction (Hypothalamic syndromes) (2018) In: Oxford Textbook of Endocrinology and Diabetes, Ed. John Wass

46. Paltoglou G, Katugampola H, Dattani MT Genetic and Hormonal Control of Growth In: Encyclopedia of Endocrine Disease 2nd edition, Ed. Ilpo Huhtaniemi, Elsevier publishers

47. Gregory L, Dattani MT Genomics of the Pituitary Gland In: Pituitary Disorders of Childhood: Diagnosis and Clinical Management, Ed. Brenda Kohn, Springer Publishers

48. Katugampola H, Cerbone M, Dattani MT Hypothalamus and Pituitary Physiology, In: Maternal-Fetal and Neonatal Endocrinology, Eds C Kovacs, C Deal

49. Cerbone M, Katugampola H, Dattani MT Hypothalamus and Pituitary Disorders, In: Maternal-Fetal and Neonatal Endocrinology, Eds C Kovacs, C Deal

50. Katugampola H, Gevers E, Dattani MT (2018) Endocrine Disorders in the Neonate In: Williams Textbook of Endocrinology, Ed Shlomo Melmed

51. Dattani MT, Cohen P Disorders of Growth Hormone/Insulin-Like Growth Factor Secretion and Action (2020) In: Pediatric Endocrinology, Ed. MJ Sperling

Refereed articles

1. Dattani MT, Pringle PJ, Hindmarsh PC, Brook CGD (1992) What is a normal stimulated growth hormone concentration? Journal of Endocrinology 133:447-450.

2. Dattani MT, Hindmarsh PC, Weir T, Robinson ICAF, Brook CGD, Marshall NJ (1993) Enhancement of growth hormone bioactivity by zinc in the eluted stain assay system (ESTA). Endocrinology 133:2803-2808.

3. Dattani MT, Hindmarsh PC, Brook CGD, Robinson ICAF, Marshall NJ (1994) Inhibition of growth hormone bioactivity by recombinant human growth hormone-binding protein in the eluted stain assay (ESTA) system. Journal of Endocrinology 140:445-453.

4. Ealey PA, Yateman M, Sandhu R, Dattani M, Hassan M, Holt S, Marshall NJ (1995) Development of an eluted stain bioassay (ESTA) for hGH. Growth Regulation 5:36-44.

5. 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.

6. 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.

7. Dattani MT, Ealey PA, Pringle PJ, Hindmarsh PC, Brook CGD, Marshall NJ (1996) An investigation into the lability of the bioactivity of human growth hormone using the ESTA bioassay. Hormone Research 46 (2):64-73.

8. 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.

9. Lindley KJ, Dunne MJ, Kane C, Shepherd RM, Squires PE, James RFL, Johnson PRV, Eckhardt S, Wakeling E, Dattani M, Milla PJ, Aynsley-Green A (1996) Ionic control of ? cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade. Archives of Disease in Childhood 74:373-378.

10. Wong NACS, Ahlquist JAO, Camacho-Hubner C, Goodwin CJ, Dattani M, Marshall NJ, Wass JAH (1997) Acromegaly or chronic renal failure: a diagnostic dilemma. Clinical Endocrinology 46: 221-226.

11. 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.

12. Mitchell H, Dattani MT, Nanduri V, Hindmarsh PC, Preece MA, Brook CGD (1999) Failure of IGF-1 and IGFBP-3 to diagnose growth hormone insufficiency. Archives of Disease in Childhood 80 (5): 443-448.

13. Nuoffer JM, Fluck C, Deladoey J, Eble A, Dattani MT, Mullis PE (2000) Regulation of human GH receptor gene transcription by 20 and 22 kDa human hepatoma cell line. Journal of Endocrinology 165 (2): 313-320.

14. 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.

15. Charmandari E, Dattani MT, Perry LA, Hindmarsh PC, Brook CGD (2001) Kinetics and effects of percutaneous administration of dihydrotestosterone. Hormone Research 56(5-6): 177-181.

16. 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.

17. 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.

18. Karavanaki K, Divoli A, Dattani M, Briassoulis G, Theodorou V, Hatzara V, Avlonitis S (2002) Multiple pituitary hormone abnormalities, fever, behavioural problems, seizures and apnoeic spells in a 6 year old girl. Hormones (Athens) Apr-Jun 1(2): 121-125.

19. Creighton S, Ransley P, Duffy P, Wilcox D, Mushtaq I, Cuckow P, Woodhouse C, Minto C, Stanhope R, Hughes I, Dattani M, Hindmarsh P, Brain C, Achermann J, Conway G, Liao LM, Barnicoat A, Perry L (2003) Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson-Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Journal of Clinical Endocrinology and Metabolism 88(7):3455.

20. Wakeling E, Dattani MT, Bloch-Zupan A, Winter RM, Holder SE (2003) Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report. Clinical Dysmorphology 12 (2): 105-109.

21. Roche EF, Charmandari E, Dattani MT, Hindmarsh PC (2003) Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report. Clinical Endocrinology 58 (5):589-596.

22. 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.

23. 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.

24. 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.

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

26. 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.

27. 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.

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

29. 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.

30. Hussain K, Cosgrove KE, Shepherd RM, Luharia A, Smith VV, Kassem J, Gregory JW, Sivaprasadarao A, Christensen HT, Jacobsen BB, Brusgard K, Glaser B, Maher EA, Lindley KJ, Hindmarsh PC, Dattani MT, Dunn M (2005) Hyperinsulinaemic hypoglycaemia in Beckwith-Wiedemann syndrome (BWS) due to defects in the function of pancreatic {beta}-cell ATP-sensitive K+ channels. J Clin Endocrinology Metabolism 90(7):4376-82.

31. 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.

32. 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.

33. Sami D, Taylor D, Saunders D, Thompson D, Russell-Eggitt I, Nischal K, Jeffery G, Dattani M, Clement R, Liasis A (2005) The spectrum of Achiasmia: congenitally reduced chiasmal decussation. British Journal of Opthalmology 89(10):1311-17.

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

35. 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.

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

37. 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.

38. Lin L, Conway GS, Hill NR, Dattani MT, Hindmarsh PC, Achermann JC (2006) A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor (GNRHR) presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. J Clin Endocrinology and Metabolism 91(12): 5117-5121.

39. 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

40. 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.

41. 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.

42. 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.

43. 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.

44. 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.

45. 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.

46. 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.

47. 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.

48. 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.

49. 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.

50. 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.