Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: Clinical, hormonal and genetic analysis

Journal of Endocrinological Investigation

Volumn 34, Issue 8 SUPPL., 2011, Pages

  Wu, C M ^a   Zhang, H B ^b   Zhou, Q ^a   Wan, L ^a   Jin, J ^a   Ni, L ^a   Pan, Y J ^a   Wu, X Y ^a   Ruan, L Y ^a  

^a WENZHOU MEDICAL UNIVERSITY   (China)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

Adrenal hypoplasia congenita; DAX1; Hypogonadotropic hypogonadism

Indexed keywords

ALENDRONIC ACID; CALCITRIOL; CALCIUM; GENOMIC DNA; HYDROCORTISONE ACETATE; HYDROCORTISONE SODIUM SUCCINATE; INFUSION FLUID; NUCLEAR RECEPTOR DAX 1; PREDNISONE; TESTOSTERONE UNDECANOATE;

ADRENAL INSUFFICIENCY; ADULT; ANDROGEN THERAPY; ARTICLE; BONE DENSITY; CASE REPORT; CHINESE; COMMON COLD; COMPRESSION FRACTURE; CORTICOTROPIN BLOOD LEVEL; DEHYDRATION; DNA EXTRACTION; DROWSINESS; DRUG WITHDRAWAL; DUAL ENERGY X RAY ABSORPTIOMETRY; EMPTY SELLA SYNDROME; EXON; FATIGUE; FEVER; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; HYPOGONADISM; HYPOGONADOTROPIC HYPOGONADISM; HYPONATREMIA; HYPOPLASIA; IDIOPATHIC DISEASE; LETHARGY; LEUKOCYTE; LIBIDO DISORDER; MALE; NAUSEA; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPOROSIS; PENIS ERECTION; PHENOTYPE; POLYMERASE CHAIN REACTION; PUBERTY; UPPER RESPIRATORY TRACT INFECTION; VOMITING; WITHDRAWAL SYNDROME; X CHROMOSOME LINKED DISORDER;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; DAX-1 ORPHAN NUCLEAR RECEPTOR; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC TESTING; HUMANS; HYPOGONADISM; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

EID: 84862776519     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.3275/7484     Document Type: Article

References (23)

1. Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WF Jr. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 1999, 84: 4501-9.
2. Choi JH, Shin YL, Kim GH, et al. Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. Horm Res 2005, 63: 200-5.
3. Muscatelli F, Strom TM, Walker AP, et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 1994, 372: 672-6.
4. Lin L, Gu WX, Ozisik G, et al. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. J Clin Endocrinol Metab 2006, 91: 3048-54. (Pubitemid 44271754)
5. Li N, Liu R, Zhang H, et al. Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia. J Clin Endocrinol Metab 2010, 95: E104-11.
6. Yang J, Zhang HJ, Xiao Y, et al. DAX-1 gene deficiency in two cases with congenital adrenal hypoplasia. Chin J Endocrinol Metab 2007, 23: 475-7.
7. Laverty CR, Fortune DW, Beischer NA. Congenital idiopathic adrenal hypoplasia. Obstet Gynecol 1973, 41: 655-64.
8. Perry R, Kecha O, Paquette J, Huot C, van Vliet G, Deal C. Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab 2005, 90: 3243-50. (Pubitemid 41014282)
9. Achermann JC, Silverman BL, Habiby RL, Jameson JL. Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. J Pediatr 2000, 137: 878-81.
10. Lehmann SG, Lalli E, Sassone-Corsi P. X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein. Proc Natl Acad Sci USA 2002, 99: 8225-30. (Pubitemid 34651034)
11. Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF Jr, Jameson JL Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production. J Clin Invest 1996, 98: 1055-62. (Pubitemid 26293325)
12. Mantovani G, De Menis E, Borretta G, et al. DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients. Eur J Endocrinol 2006, 154: 685-9. (Pubitemid 43810854)
13. Tabarin A, Achermann JC, Recan D, et al. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J Clin Invest 2000, 105: 321-8. (Pubitemid 30094452)
14. Mantovani G, Ozisik G, Achermann JC, et al. Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 2002, 87: 44-8. (Pubitemid 34084669)
15. Ozisik G, Mantovani G, Achermann JC, et al. An alternate translation initiation site circumvents an amino terminal DAX1 nonsense mutation, leading to a mild form of X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 2003, 88: 417-23. (Pubitemid 36115197)
16. Brown P, Scobie GA, Townsend J, et al. Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. J Clin Endocrinol Metab 2003, 88: 1341-9. (Pubitemid 36337799)
17. Meeks JJ, Weiss J, Jameson JL. Dax1 is required for testis determination. Nat Genet 2003, 34: 32-3. (Pubitemid 36548787)
18. Meeks JJ, Crawford SE, Russell TA, Morohashi K, Weiss J, Jameson JL. Dax1 regulates testis cord organization during gonadal differentiation. Development 2003, 130: 1029-36. (Pubitemid 36367518)
19. Park SY, Meeks JJ, Raverot G, et al. Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development. Development 2005, 132: 2415-23. (Pubitemid 40872810)
20. De Rosa M, Paesano L, Nuzzo V, et al. Lupoli G. Bone mineral density and bone markers in hypogonadotropic and hypergonadotropic hypogonadal men after prolonged testosterone treatment. J Endocrinol Invest 2001, 24: 246-52. (Pubitemid 32435504)
21. Caron P, Imbeaud S, Bennet A, Plantavid M, Camerino G, Rochiccioli P. Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene. J Clin Endocrinol Metab 1999, 84: 3563-9. (Pubitemid 30645206)
22. Balsamo A, Antelli A, Baldazzi L, et al. A new DAX1 gene mutation associated with congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Am J Med Genet A 2005, 135: 292-6. (Pubitemid 40756656)
23. Iyer AK, McCabe ER. Molecular mechanisms of DAX1 action. Mol Genet Metab 2004, 83: 60-73. (Pubitemid 39328074)