Adrenal hypoplasia congenita - an uncommon reason of primary adrenal insufficiency;Hypoplasie surrénalienne congénitale - une cause rare d'insuffisance surrénale

Annales d'Endocrinologie

Volumn 71, Issue 4, 2010, Pages 309-313

  Fichna, M ^a,b   Zurawek, M ^b   Gut, P ^a   Sowinski J ^a   Nowak, J ^b  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b INSTITUTE OF HUMAN GENETICS   (Poland)

Author keywords

Adrenal hypoplasia congenita; Adrenal insufficiency; Hypogonadotropic hypogonadism; NROB1

Indexed keywords

17 HYDROXYCORTICOSTEROID; ANTIBIOTIC AGENT; CHORIONIC GONADOTROPIN; CORTICOTROPIN; FLUDROCORTISONE; FOLLITROPIN; GONADOTROPIN; HYDROCORTISONE; LUTEINIZING HORMONE; NUCLEAR RECEPTOR DAX 1; NUCLEOTIDE; OMNADREN; PRASTERONE SULFATE; SOMATOMEDIN C; TESTOSTERONE; TESTOSTERONE ENANTATE; TESTOSTERONE ESTER; UNCLASSIFIED DRUG;

ADRENAL CORTEX INSUFFICIENCY; ADRENAL DISEASE; ADRENAL HYPOPLASIA CONGENITA; ADRENAL INSUFFICIENCY; ADULT; ANDROGEN THERAPY; ARTICLE; BLOOD PRESSURE; BLOOD SAMPLING; BONE DENSITY; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; DEHYDRATION; DEVELOPMENTAL DISORDER; DIET SUPPLEMENTATION; DISEASE COURSE; DISEASE SEVERITY; DOSE RESPONSE; DRUG DOSE INCREASE; FAILURE TO THRIVE; GENE MUTATION; GENETIC SCREENING; GROWTH HORMONE DEFICIENCY; HAIR DISEASE; HUMAN; HYPERPIGMENTATION; HYPOGONADOTROPIC HYPOGONADISM; MALE; MENTAL DEVELOPMENT; MORNING DOSAGE; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PNEUMONIA; POLYMERASE CHAIN REACTION; TESTIS SIZE; THORAX RADIOGRAPHY;

ADRENAL HYPERPLASIA, CONGENITAL; ADRENAL INSUFFICIENCY; ANDROGENS; CHORIONIC GONADOTROPIN; DAX-1 ORPHAN NUCLEAR RECEPTOR; DEHYDROEPIANDROSTERONE SULFATE; GENETIC DISEASES, X-LINKED; HUMANS; HYPOGONADISM; MALE; POINT MUTATION; TESTOSTERONE; YOUNG ADULT;

EID: 77956230747     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2010.04.003     Document Type: Article

References (23)

1. Muscatelli F., Strom T.M., Walker A.P., et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia and hypogonadotropic hypogonadism. Nature 1994, 372:672-676.
2. Guo W., Burris T.P., McCabe E.R. Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. Biochem Mol Med 1995, 56:8-13.
3. Ito M., Yu R., Jameson J.L. DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypolasia congenita. Mol Cell Biol 1997, 17:1476-1483.
4. Bartley J.A., Patil S., Davenport S., Goldstein D., Pickens J. Duchenne muscular dystrophy, glicerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. J Pediatr 1986, 108:189-192.
5. Shaikh M.G., Boyes L., Kingston H., et al. Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. J Med Genet 2008, 45:e1.
6. Seminara S.B., Achermann J.C., Genel M., Jameson J.L., Crowley W.F. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 1999, 84:4501-4509.
7. Reutens A.T., Achermann J.C., Ito M., et al. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrinol Metab 1999, 84:504-511.
8. Habiby R.L., Boepple P., Machtigall L., Sluss P.M., Crowley W.F., Jameson J.L. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production. J Clin Invest 1996, 98:1055-1062.
9. Verrijn Stuart A.A., Ozisik G., de Vroede M.A., et al. An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency. J Clin Endocrinol Metab 2007, 92:755-761.
10. Tabarin A., Achermann J.C., Recan D., et al. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J Clin Invest 2000, 105:321-328.
11. Montovani G., De Menis E., Borretta G. DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients. Eur J Endocrinol 2006, 154:685-689.
12. Palczewska I, Niedzwiedzka Z. Somatic development indices in children and youth of Warsaw. Med Wieku Rozwoj. 2001;5(2 Suppl 1):18-118.
13. Betterle C., Dal Pra C., Mantero F., Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocr Rev 2002, 23:327-364.
14. Fichna M., Fichna P., Gryczynska M., et al. Screening for associated autoimmune disorders in Polish patients with Addison's disease. Endocrinology 2010, 37:349-360.
15. Landau Z., Hanukoglu A., Sack J., et al. Clinical and genetic heterogeneity of congenita adrenal hypoplasia due to NROB1 gene mutations. Clin Endcirinol (Oxf) 2010, 72:448-454.
16. Achermann J.C., Ito M., Ito M., Hindmarsh P.C., Jameson J.L. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 1999, 22:125-126.
17. Ahmad I., Paterson W.F., Lin L., et al. A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita. Horm Res 2007, 68:32-37.
18. Brown P., Scobie G.A., Townsend J., et al. Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as nonsense mutation. J Clin Endocrinol Metab 2003, 88:1341-1349.
19. Meinhardt U.J., Ho K.K. Modulation of growth hormone action by sex steroids. Clin Endocrinol (Oxf) 2006, 65:413-422.
20. Penfold J.L., Smeaton T.C., Gilliland J.M., et al. Indices of serum androgens in normal puberty: correlations of two indices with chronological age, bone age and pubertal development in boys and girls. Clin Endocrinol (Oxf) 1981, 15:183-192.
21. Giustina A., Scalvini T., Tassi C., et al. Maturation of the regulation of growth hormone secretion in young males with hypogonadotropic hypogonadism pharmacologically exposed to progressive increments in serum testosterone. J Clin Endocrinol Metab 1997, 82:1210-1219.
22. Krone N., Arlt W. Genetics of congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab 2009, 23:181-192.
23. Bornstein S.R. Predisposing factors for adrenal insufficiency. N Engl J Med 2009, 360:2328-2339.