Clinical and genetic aspects of combined pituitary hormone deficiencies;Déficit hypophysaire combiné multiple : aspects cliniques et génétiques

Annales d'Endocrinologie

Volumn 69, Issue 1, 2008, Pages 7-17

  Castinetti, F ^a,b   Reynaud, R ^a,b   Saveanu, A ^a,b,c   Quentien, M H ^a,b   Albarel, F ^a,b   Barlier, A ^a,b,c   Enjalbert, A ^a,b,c   Brue, T ^a,b  

^a TIMONE HOSPITAL   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c HÔPITAL DE LA CONCEPTION   (France)

Author keywords

Combined pituitary hormone deficiency (CPHD); Congenital hypopituitarism; Growth hormone; Pituitary; Pituitary transcription factors; Somatotroph deficiency

Indexed keywords

CHORIONIC GONADOTROPIN; CORTICOTROPIN; ESTROGEN; FOLLITROPIN; GONADOTROPIN; GROWTH HORMONE; HUMAN GROWTH HORMONE; HYDROCORTISONE; HYPOPHYSIS HORMONE; LEVOTHYROXINE; LUTEINIZING HORMONE; PROLACTIN; SOMATOMEDIN; THYROTROPIN; TRANSCRIPTION FACTOR HESX1; TRANSCRIPTION FACTOR LHX3; TRANSCRIPTION FACTOR PIT 1;

CLINICAL FEATURE; COGNITIVE DEFECT; COMBINED PITUITARY HORMONE DEFICIENCY; DELAYED PUBERTY; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GROWTH HORMONE SECRETING CELL; HORMONE DEFICIENCY; HUMAN; HYPOPITUITARISM; INCIDENCE; PROGNOSIS; SHORT STATURE; SHORT SURVEY; TSH SECRETING CELL;

DIAGNOSIS, DIFFERENTIAL; HOMEODOMAIN PROTEINS; HORMONE REPLACEMENT THERAPY; HUMANS; HYPOPITUITARISM; PITUITARY HORMONES; TRANSCRIPTION FACTOR PIT-1;

EID: 41349094132     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2008.01.001     Document Type: Short Survey

References (46)

1. Andersen B., Pearse II R.V., Jenne K., Sornson M., Lin S.C., Bartke A., et al. The ames dwarf gene is required for Pit-1 gene activation. Dev Biol 172 (1995) 495-503
2. Bhangoo A.P., Hunter C.S., Savage J.J., Anhalt H., Pavlakis S., Walvoord E.C., et al. Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency. J Clin Endocrinol Metab 91 (2006) 747-753
3. Camper S.A., Saunders T.L., Katz R.W., and Reeves R.H. The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutation. Genomics 8 (1990) 586-590
4. Carvalho L.R., Woods K.S., Mendonca B.B., Marcal N., Zamparini A.L., Stifani S., et al. A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. J Clin Invest 112 (2003) 1192-1201
5. Chen R.P., Ingraham H.A., Treacy M.N., Albert V.R., Wilson L., and Rosenfeld M.G. Autoregulation of Pit-1 gene expression mediated by two cis-active promoter elements. Nature 346 (1990) 583-586
6. Dattani M.T., Martinez-Barbera J.P., Thomas P.Q., Brickman J.M., Gupta R., Martensson I.L., et al. Mutations in the homeobox gene HESX1/HESX1 associated with septo-optic dysplasia in human and mouse. Nat Genet 19 (1998) 125-133
7. Deladoey J., Fluck C., Buyukgebiz A., Kuhlmann B.V., Eble A., Hindmarsh P.C., et al. "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab 84 (1999) 1645-1650
8. Duquesnoy P., Roy A., Dastot F., Ghali I., Teinturier C., Netchine I., et al. Human prop-1: cloning, mapping, genomic structure. Mutations in familial combined pituitary hormone deficiency. FEBS Lett 437 (1998) 216-220
9. Fofanova O.V., Takamura N., Kinoshita E., Yoshimoto M., Tsuji Y., Peterkova V.A., et al. Rarity of Pit-1 involvement in children from Russia with combined pituitary hormone deficiency. Am J Med Genet 77 (1998) 360-365
10. Gage P.J., Brinkmeier M.L., Scarlett L.M., Knapp L.T., Camper S.A., and Mahon K.A. The ames dwarf gene, df, is required early in pituitary ontogeny for the extinction of rpx transcription and initiation of lineage-specific cell proliferation. Mol Endocrinol 10 (1996) 1570-1581
11. Gat-Yablonski G., Klar A., Hirsch D., Eliakim A., Lazar L., Hurvitz H., et al. Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency. J Pediatr Endocrinol Metab 18 (2005) 385-393
12. Ingraham H.A., Chen R.P., Mangalam H.J., Elsholtz H.P., Flynn S.E., Lin C.R., et al. A tissue-specific transcription factor containing a homeodomain specifies a pituitary phenotype. Cell 55 (1988) 519-529
13. Kim S.S., Kim Y., Shin Y.L., Kim G.H., Kim T.U., and Yoo H.W. Clinical characteristics and molecular analysis of Pit-1, PROP1, LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary mr imaging. Horm Res 60 (2003) 277-283
14. Laumonnier F., Ronce N., Hamel B.C., Thomas P., Lespinasse J., Raynaud M., et al. Transcription factor sox3 is involved in x-linked mental retardation with growth hormone deficiency. Am J Hum Genet 71 (2002) 1450-1455
15. Lebl J., Vosahlo J., Pfaeffle R.W., Stobbe H., Cerna J., Novotna D., et al. Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects. Eur J Endocrinol 153 (2005) 389-396
16. Machinis K., Pantel J., Netchine I., Leger J., Camand O.J., Sobrier M.L., et al. Syndromic short stature in patients with a germline mutation in the lim homeobox LHX4. Am J Hum Genet 69 (2001) 961-968
17. Mclennan K., Jeske Y., Cotterill A., Cowley D., Penfold J., Jones T., et al. Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates. Clin Endocrinol (Oxf) 58 (2003) 785-794
18. Mcnay D.E., Turton J.P., Kelberman D., Woods K.S., Brauner R., Papadimitriou A., et al. HESX1 mutations are an uncommon cause of septo-optic dysplasia and hypopituitarism. J Clin Endocrinol Metab (2006)
19. Mullen R.D., Colvin S.C., Hunter C.S., Savage J.J., Walvoord E.C., Bhangoo A.P., et al. Roles of the LHX3 and LHX4 lim-homeodomain factors in pituitary development. Mol Cell Endocrinol (2007)
20. Netchine I., Sobrier M.L., Krude H., Schnabel D., Maghnie M., Marcos E., et al. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet 25 (2000) 182-186
21. Olson L.E., Tollkuhn J., Scafoglio C., Krones A., Zhang J., Ohgi K.A., et al. Homeodomain-mediated bêta-catenin-dependent switching events dictate cell-lineage determination. Cell 125 (2006) 593-605
22. Pellegrini-Bouiller I., Belicar P., Barlier A., Gunz G., Charvet J.P., Jaquet P., et al. A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency. J Clin Endocrinol Metab 81 (1996) 2790-2796
23. Pellegrini I., Roche C., Quentien M.H., Ferrand M., Gunz G., Thirion S., et al. Involvement of the pituitary-specific transcription factor Pit-1 in somatolactotrope cell growth and death: an approach using dominant-negative Pit-1 mutants. Mol Endocrinol 20 (2006) 3212-3227
24. Radovick S., Nations M., Du Y., Berg L.A., Weintraub B.D., and Wondisford F.E. A mutation in the pou-homeodomain of Pit-1 responsible for combined pituitary hormone deficiency. Science 257 (1992) 1115-1118
25. Rainbow L.A., Rees S.A., Shaikh M.G., Shaw N.J., Cole T., Barrett T.G., et al. Mutation analysis of pouf-1, prop-1 and hesx-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. Clin Endocrinol (Oxf) 62 (2005) 163-168
26. Raskin S., Cogan J.D., Summar M.L., Moreno A., Krishnamani M.R., and Phillips III J.A. Genetic mapping of the human pituitary-specific transcriptional factor gene and its analysis in familial panhypopituitary dwarfism. Hum Genet 98 (1996) 703-705
27. Reynaud R., Barlier A., Vallette-Kasic S., Saveanu A., Guillet M.P., Simonin G., et al. An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. J Clin Endocrinol Metab 90 (2005) 4880-4887
28. Reynaud R., Chadli-Chaieb M., Vallette-Kasic S., Barlier A., Sarles J., Pellegrini-Bouiller I., et al. A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: Phenotypic and in vitro functional studies. J Clin Endocrinol Metab 89 (2004) 5779-5786
29. Reynaud R., Gueydan M., Saveanu A., Vallette-Kasic S., Enjalbert A., Brue T., et al. Genetic screening of combined pituitary hormone deficiency: Experience in 195 patients. J Clin Endocrinol Metab 91 (2006) 3329-3336
30. Reynaud R., Saveanu A., Barlier A., Enjalbert A., and Brue T. Pituitary hormone deficiencies due to transcription factor gene alterations. Growth Horm IGF Res 14 (2004) 442-448
31. Sobrier M.L., Maghnie M., Vie-Luton M.P., Secco A., Di Iorgi N., Lorini R., et al. Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities. J Clin Endocrinol Metab 91 (2006) 4528-4536
32. Sobrier M.L., Netchine I., Heinrichs C., Thibaud N., Vie-Luton M.P., Van Vliet G., et al. Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary. Hum Mutat 25 (2005) 503
33. Sornson M.W., Wu W., Dasen J.S., Flynn S.E., Norman D.J., O'connell S.M., et al. Pituitary lineage determination by the prophet of Pit-1 homeodomain factor defective in ames dwarfism. Nature 384 (1996) 327-333
34. Tatsumi K., Miyai K., Notomi T., Kaibe K., Amino N., Mizuno Y., et al. Cretinism with combined hormone deficiency caused by a mutation in the Pit-1 gene. Nat Genet 1 (1992) 56-58
35. Tatsumi K.I., Kikuchi K., Tsumura K., and Amino N. A novel PROP1 gene mutation (157dela) in Japanese siblings with combined anterior pituitary hormone deficiency. Clin Endocrinol (Oxf) 61 (2004) 635-640
36. Thomas P.Q., Dattani M.T., Brickman J.M., Mcnay D., Warne G., Zacharin M., et al. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet 10 (2001) 39-45
37. Turton J.P., Reynaud R., Mehta A., Torpiano J., Saveanu A., Woods K.S., et al. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency (cphd). J Clin Endocrinol Metab (2005)
38. Vallette-Kasic S., Barlier A., Teinturier C., Diaz A., Manavela M., Berthezene F., et al. PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. J Clin Endocrinol Metab 86 (2001) 4529-4535
39. Vesper A.H., Raetzman L.T., and Camper S.A. Role of prophet of Pit-1 (PROP1) in gonadotrope differentiation and puberty. Endocrinology 147 (2006) 1654-1663
40. Vieira V., David G., Roche O., De La Houssaye G., Boutboul S., Arbogast L., et al. Identification of four new PITX2 gene mutations in patients with axenfeld-rieger syndrome. Mol Vis 12 (2006) 1448-1460
41. Voutetakis A., Argyropoulou M., Sertedaki A., Livadas S., Xekouki P., Maniati-Christidi M., et al. Pituitary magnetic resonance imaging in 15 patients with PROP1 gene mutations: Pituitary enlargement may originate from the intermediate lobe. J Clin Endocrinol Metab 89 (2004) 2200-2206
42. Ward R.D., Raetzman L.T., Suh H., Stone B.M., Nasonkin I.O., and Camper S.A. Role of PROP1 in pituitary gland growth. Mol Endocrinol 19 (2005) 698-710
43. Ward R.D., Stone B.M., Raetzman L.T., and Camper S.A. Cell proliferation and vascularization in mouse models of pituitary hormone deficiency. Mol Endocrinol 20 (2006) 1378-1390
44. Woods K.S., Cundall M., Turton J., Rizotti K., Mehta A., Palmer R., et al. Over- and underdosage of sox3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet 76 (2005) 833-849
45. Wu W., Cogan J.D., Pfaffle R.W., Dasen J.S., Frisch H., O'connell S.M., et al. Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet 18 (1998) 147-149
46. Yamashita T., Moriyama K., Sheng H.Z., and Westphal H. LHX4, a lim homeobox gene. Genomics 44 (1997) 144-146