Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene

European Journal of Pediatrics

Volumn 168, Issue 3, 2009, Pages 329-331

  Yang, Fan ^a,b   Hanaki, Keiichi ^a   Kinoshita, Tomoe ^a   Kawashima, Yuki ^a   Nagaishi, Jun Ichi ^a   Kanzaki, Susumu ^a  

^a TOTTORI UNIVERSITY   (Japan)

^b SICHUAN UNIVERSITY   (China)

Author keywords

Adrenal hypoplasia congenita; DAX 1; Hypogonadotropic hypogonadism

Indexed keywords

CHORIONIC GONADOTROPIN; CORTICOTROPIN; FLUDROCORTISONE ACETATE; GONADORELIN; HYDROCORTISONE; NUCLEAR RECEPTOR DAX 1; TESTOSTERONE;

ADRENAL CORTEX DISEASE; ARTICLE; AZOOSPERMIA; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CLINICAL FEATURE; CONGENITAL ADRENAL HYPOPLASIA; DNA SEQUENCE; DRUG EFFICACY; GENE MUTATION; HUMAN; HYPOGONADISM; LABORATORY TEST; MALE; PRIORITY JOURNAL; SCHOOL CHILD; SEMEN ANALYSIS; TESTOSTERONE BLOOD LEVEL; X CHROMOSOME LINKED DISORDER;

ADRENAL INSUFFICIENCY; CHILD; CODON, TERMINATOR; DNA-BINDING PROTEINS; FLUDROCORTISONE; GENETIC DISEASES, X-LINKED; HORMONES; HUMANS; HYDROCORTISONE; HYPOGONADISM; MALE; MUTATION; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS;

EID: 59449097715     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-008-0779-x     Document Type: Article

References (10)

1. RL Habity P Boepple L Nachtigall PM Sluss WF Jr Crowley JL Jameson 1996 Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production J Clin Invest 98 1055 1062
2. M Ito R Yu JL Jameson 1997 DAX-1 inhibits SF-1-mediated transactivation via a carboxyl-terminal domain that is deleted in adrenal hypoplasia congenita Mol Cell Biol 17 3 1476 1483
3. KY Loke KS Larry YS Lee M Peter SL Drop 2000 Prepubertal diagnosis of X-linked congenital adrenal hypoplasia presenting after infancy Eur J Pediatr 159 9 671 675
4. G Mantovani G Ozisik JC Achermann R Romoli G Borretta L Persani 2002 Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita J Clin Endocrinol Metab 87 1 41 43
5. J Nakae T Tajima S Kusuda H Kohda T Okabe N Shinohara M Kato M Murashita T Mukai K Imanaka K Fujieda 1996 Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita J Clin Endocrinol Metab 81 3680 3685
6. JK Phelan ER McCabe 2001 Mutations in NR0B1 (DAX-1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita Hum Mutat 18 472 487
7. SB Seminara JC Achermann M Genel JL Jameson WF Crowley Jr 1999 X-Linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females J Clin Endocrinol Metab 84 4501 4509
8. A Tabarin JC Achermann D Recan V Bex X Bertagna S Christin-Maitre M Ito JL Jameson P Bouchard 2000 A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism J Clin Invest 105 3 321 328
9. E Zanaria F Muscatelli B Bardoni TM Strom 1994 An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita Nature 372 635 641
10. YH Zhang W Guo RL Wagner BL Huang L McCabe E Vilain 1998 DAX-1 mutations map to putative structural domains in a deduced three-dimensional model Am J Hum Genet 62 4 855 864