Pituitary stalk interruption syndrome in 83 patients: Novel HESX1 mutation and severe hormonal prognosis in malformative forms

European Journal of Endocrinology

Volumn 164, Issue 4, 2011, Pages 457-465

  Reynaud, R ^a,d   Albarel, F ^b,d   Saveanu, A ^b,c,d   Kaffel, N ^e   Castinetti, F ^b,d   Lecomte, P ^f   Brauner, R ^g   Simonin, G ^a   Gaudart, J ^b,h   Carmona, E ^c   Enjalbert, A ^c,d   Barlier, A ^b,c,d   Brue, T ^b,d  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE MARSEILLE   (France)

^b TIMONE HOSPITAL   (France)

^c HÔPITAL DE LA CONCEPTION   (France)

^d University of Mediterranée   (France)

^e HEDI CHAKER HOSPITAL   (Tunisia)

^f CHU BRETONNEAU   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

^h AIX MARSEILLE UNIV   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; FOLLITROPIN; LUTEINIZING HORMONE; THYROTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HESX1; TRANSCRIPTION FACTOR LHX4; TRANSCRIPTION FACTOR OTX2; TRANSCRIPTION FACTOR SOX3; UNCLASSIFIED DRUG; GADOLINIUM; GLUCAGON; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR; INSULIN; PROLACTIN; PROPRANOLOL; SOMATORELINE;

ARTICLE; BONE AGE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CRYPTORCHISM; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HETEROZYGOSITY; HORMONE DEFICIENCY; HUMAN; HYPOGLYCEMIA; HYPOPHYSIS DISEASE; HYPOPLASIA; INCIDENCE; JAUNDICE; MAJOR CLINICAL STUDY; MALE; MALFORMATION SYNDROME; MICROPENIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PHENOTYPE; PITUITARY STALK; PITUITARY STALK INTERRUPTION SYNDROME; PREDICTION; PRIORITY JOURNAL; PROGNOSIS; SALT WASTING; ADENOHYPOPHYSIS HYPOFUNCTION; ADOLESCENT; ADULT; BREECH PRESENTATION; CENTRAL NERVOUS SYSTEM MALFORMATION; CHILD; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CORTICOTROPIN DEFICIENCY; CRANIOFACIAL MALFORMATION; EYE MALFORMATION; FAMILY HISTORY; FOLLICLE STIMULATING HORMONE DEFICIENCY; GENETIC SCREENING; HESX1 GENE; HYPERPROLACTINEMIA; INFANT; INTRAUTERINE GROWTH RETARDATION; LHX4 GENE; LUTEINIZING HORMONE DEFICIENCY; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEUROIMAGING; NEWBORN; OTX2 GENE; PITUITARY HYPOPLASIA; POSTERIOR PITUITARY ALONG THE PITUITARY STALK; PRESCHOOL CHILD; PROLACTIN DEFICIENCY; SCHOOL CHILD; SELLA TURCICA; SEX RATIO; SOX3 GENE; THYROID STIMULATING HORMONE DEFICIENCY; TOOTH MALFORMATION;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; OTX TRANSCRIPTION FACTORS; PITUITARY GLAND; SOXB1 TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS;

EID: 79953218776     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-10-0892     Document Type: Article

References (30)

1. Simmons GE, Suchnicki JE, Rak KM & Damiano TR. MR imaging of the pituitary stalk: size, shape, and enhancement pattern. AJR. American Journal of Roentgenology 1992 159 375-377.
2. Tauber M, Chevrel J, Diene G, Moulin P, Jouret B, Oliver I, Pienkowski C & Sevely A. Long-term evolution of endocrine disorders and effect of GH therapy in 35 patients with pituitary stalk interruption syndrome. Hormone Research 2005 64 266-273. (doi:10.1159/000089425)
3. Pinto G, Netchine I, Sobrier ML, Brunelle F, Souberbielle JC & Brauner R. Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. Journal of Clinical Endocrinology and Metabolism 1997 82 3450-3454. (doi:10.1210/jc.82.10.3450)
4. Maghnie M, Larizza D, Triulzi F, Sampaolo P, Scotti G & Severi F. Hypopituitarism and stalk agenesis: a congenital syndrome worsened by breech delivery? Hormone Research 1991 35 104-108. (doi:10.1159/000181883)
5. Melo ME, Marui S, Carvalho LR, Arnhold IJ, Leite CC, Mendonca BB & Knoepfelmacher M. Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe. Clinical Endocrinology 2007 66 95-102. (doi:10.1111/j.1365-2265.2006. 02692.x)
6. Simon D, Hadjiathanasiou C, Garel C, Czernichow P & Leger J. Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia. Clinical Endocrinology 2006 64 416-422. (doi:10.1111/j.1365-2265.2006.02484.x)
7. Davis SW, Castinetti F, Carvalho LR, Ellsworth BS, Potok MA, Lyons RH, Brinkmeier ML, Raetzman LT, Carninci P, Mortensen AH, Hayashizaki Y, Arnhold IJ, Mendonca BB, Brue T & Camper SA. Molecular mechanisms of pituitary organogenesis: in search of novel regulatory genes. Molecular and Cellular Endocrinology 2009 323 4-19. (doi:10.1016/j.mce.2009.12.012)
8. Alatzoglou KS, Turton JP, Kelberman D, Clayton PE, Mehta A, Buchanan C, Aylwin S, Crowne EC, Christesen HT, Hertel NT, Trainer PJ, Savage MO, Raza J, Banerjee K, Sinha SK, Ten S, Mushtaq T, Brauner R, Cheetham TD, Hindmarsh PC, Mullis PE & Dattani MT. Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. Journal of Clinical Endocrinology and Metabolism 2009 94 3191-3199. (doi:10.1210/jc.2008-2783)
9. Arrigo T, Wasniewska M, De Luca F, Valenzise M, Lombardo F, Vivenza D, Vaccaro T, Coradi E & Biason-Lauber A. Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development. Journal of Endocrinological Investigation 2006 29 208-213.
10. Kim SS, Kim Y, Shin YL, Kim GH, Kim TU & Yoo HW. Clinical characteristics and molecular analysis of PIT1, PROP1, LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging. Hormone Research 2003 60 277-283. (doi:10.1159/000074245)
11. Sloop KW, Walvoord EC, Showalter AD, Pescovitz OH & Rhodes SJ. Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia. Journal of Clinical Endocrinology and Metabolism 2000 85 2701-2708. (doi:10.1210/jc.85.8.2701)
12. Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T & Dattani MT. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. Journal of Clinical Endocrinology and Metabolism 2005 90 4762-4770. (doi:10.1210/jc.2005-0570)
13. McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, Keller E, Keller A, Haufs N, Krude H, Shalet SM & Dattani MT. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. Journal of Clinical Endocrinology and Metabolism 2007 92 691-697. (doi:10.1210/jc.2006-1609)
14. Sobrier ML, Maghnie M, Vie-Luton MP, Secco A, di Iorgi N, Lorini R & Amselem S. Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities. Journal of Clinical Endocrinology and Metabolism 2006 91 4528-4536. (doi:10.1210/jc.2006-0426)
15. Sobrier ML, Netchine I, Heinrichs C, Thibaud N, Vie-Luton MP, Van Vliet G & Amselem S. Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary. Human Mutation 2005 25 503. (doi:10.1002/humu.9332)
16. 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 IC & Beddington RS. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Human Molecular Genetics 2001 10 39-45. (doi:10.1093/hmg/10.1.39)
17. Castinetti F, Saveanu A, Reynaud R, Quentien MH, Buffin A, Brauner R, Kaffel N, Albarel F, Guedj AM, El Kholy M, Amin M, Enjalbert A, Barlier A & Brue T. A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism. Journal of Clinical Endocrinology and Metabolism 2008 93 2790-2799. (doi:10.1210/jc.2007-2389)
18. Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P & Amselem S. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. American Journal of Human Genetics 2001 69 961-968. (doi:10.1086/323764)
19. Pfaeffle RW, Hunter CS, Savage JJ, Duran-Prado M, Mullen RD, Neeb ZP, Eiholzer U, Hesse V, Haddad NG, Stobbe HM, Blum WF, Weigel JF & Rhodes SJ. Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies. Journal of Clinical Endocrinology and Metabolism 2008 93 1062-1071. (doi:10.1210/jc.2007-1525)
20. Dateki S, Kosaka K, Hasegawa K, Tanaka H, Azuma N, Yokoya S, Muroya K, Adachi M, Tajima T, Motomura K, Kinoshita E, Moriuchi H, Sato N, Fukami M & Ogata T. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. Journal of Clinical Endocrinology and Metabolism 2010 95 756-764. (doi:10.1210/jc.2009-1334)
21. Diaczok D, Romero C, Zunich J, Marshall I & Radovick S. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. Journal of Clinical Endocrinology and Metabolism 2008 93 4351-4359. (doi:10.1210/jc.2008-1189)
22. Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C & Briault S. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. American Journal of Human Genetics 2002 71 1450-1455. (doi:10.1086/344661)
23. 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 IC, Lovell-Badge R, Woodward KJ & Dattani MT. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. American Journal of Human Genetics 2005 76 833-849. (doi:10.1086/430134)
24. Sempé M, Pedron G & Roy-Pernot M. Auxologie, méthode et séquences. Paris: Théraplix, 1979.
25. Argyropoulou M, Perignon F, Brunelle F, Brauner R & Rappaport R. Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children. Pediatric Radiology 1991 21 247-249. (doi:10.1007/BF02018614)
26. Chen S, Leger J, Garel C, Hassan M & Czernichow P. Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function. Journal of Clinical Endocrinology and Metabolism 1999 84 2408-2413. (doi:10.1210/jc.84.7.2408)
27. Arrigo T, De Luca F, Maghnie M, Blandino A, Lombardo F, Messina MF, Wasniewska M, Ghizzoni L & Bozzola M. Relationships between neuroradiological and clinical features in apparently idiopathic hypopituitarism. European Journal of Endocrinology 1998 139 84-88. (doi:10.1530/eje.0.1390084)
28. Dasen JS, Barbera JP, Herman TS, Connell SO, Olson L, Ju B, Tollkuhn J, Baek SH, Rose DW& Rosenfeld MG. Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis. Genes and Development 2001 15 3193-3207. (doi:10.1101/gad.932601)
29. Kelberman D & Dattani MT. Septo-optic dysplasia - novel insights into the aetiology. Hormone Research 2008 69 257-265. (doi:10.1159/000114856)
30. Reynaud R, Gueydan M, Saveanu A, Vallette-Kasic S, Enjalbert A, Brue T & Barlier A. Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. Journal of Clinical Endocrinology and Metabolism 2006 91 3329-3336. (doi:10.1210/jc.2005-2173)