A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: Implications for pubertal regulation

Hormone Research

Volumn 71, Issue 5, 2009, Pages 298-304

  Loke, Kah Yin ^a,c   Poh, Larry Kok Seng ^a   Lee, Warren Wei Rhen ^b   Lai, Poh San ^a  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

^c NATIONAL UNIVERSITY HOSPITAL   (Singapore)

Author keywords

Central precocious puberty; X linked adrenal hypoplasia congenita

Indexed keywords

DYSTROPHIN; GLYCEROL KINASE; NUCLEAR RECEPTOR DAX 1;

ADOLESCENT; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; DUCHENNE MUSCULAR DYSTROPHY; EXON; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENETIC ANALYSIS; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; LOSS OF FUNCTION MUTATION; MALE; POLYMERASE CHAIN REACTION; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; PUBERTY; REGULATORY MECHANISM; SOUTHERN BLOTTING; X CHROMOSOME LINKED DISORDER; X LINKED ADRENAL HYPOPLASIA CONGENITA;

ADOLESCENT; ADRENAL GLAND DISEASES; CHILD, PRESCHOOL; CYPROTERONE ACETATE; DNA-BINDING PROTEINS; GENES, X-LINKED; GLYCEROL KINASE; HUMANS; HYPOGONADISM; INFANT, NEWBORN; MALE; MUSCULAR DYSTROPHY, DUCHENNE; PUBERTY; PUBERTY, PRECOCIOUS; RECEPTORS, RETINOIC ACID; REPRESSOR PROTEINS;

EID: 63349111829     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000208804     Document Type: Article

References (17)

1. Walker AP, Chelly J, Love DR, Brush YL, Recan D, Chaussain JL, Oley CA, Connor JM, Yates J, Price DA, Super M, Bottani A, Stein-man B, Kaplan JC, Davies KE, Monaco AP: A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes. Hum Mol Genet 1992; 1: 579-585.
2. Worley KC, Ellison KA, Zhang YH, Mason J, Roth EJ, Adams V, Fogt DD, Zhu XM, Tow-bin JA: Yeast artificial chromosomes cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics 1993; 16:407-416.
3. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ERB, Fraccaro M, Zuffardi O, Camerino G: A dosage-sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 1994; 7:497-501.
4. Zanaria E, Muscatelli F, Bardoni B, Strom TM, Guioli G, Cuo W, Lalli E, Moser C, Walker AP, McCabe ERB, Meitinger T, Monaco AP, Sassore-Coarsi P, Camerino G: An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994; 372: 635-641.
5. Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabi W, Scharz HP, Kaplan JC, Camerino G, Meitinger T, Monaco AP: Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature 1994; 372: 672-676.
6. Habiby RL, Boepple P, Nachtigal L, Sluss PM, Crowley WF Jr, Jameson JL: Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production. J Clin Invest 1996; 98:1055-1062.
7. Chamberlain JS, Gibbs RA, Ranier JE, and Caskey CT: Multiplex PCR for the diagnosis of Duchenne muscular dystrophy; in: Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds): PCR Protocols: A Guide to Methods and Applications. New York, Academic Press, 1990, pp 272-281.
8. Beggs AH, Koenig M, Boyce FM, Kunkel LM: Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990; 86:45-48.
9. Wittenberg DF: Familial X-linked adreno-cortical hypoplasia association with andro-genic precocity. Arch Dis Child 1981; 56: 633-636.
10. Domenice S, Latronico AC, Brito VN, Arn-hold IJD, Kok F, Mendonica BB: Adrenocor-ticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene. J Clin Endocrinol Metab 2001; 86:4068-4071.
11. Katsumata N, Tanae A, Shinagawa T, Nimura A, Horikawa R, Tanaka T: Precocious puberty in patient with congenital adrenal hy-poplasia. Proc 79th Annual Meeting of The Endocrine Society, Minneapolis 1997, abstr P02-512.
12. Laron Z, Kauli R: Experience with cyproter-one acetate in the treatment of precocious puberty. J Pediatr Endocrinol Metab 2000; 13: 805-810.
13. Achermann JC, Gu WX, Kotlar TJ, Meeks JJ, Sabacan LP, Seminara SB, Habiby RL, Hind-marsh PC, Bick DP, Sherins RJ, Crowley WF, Layman LC, Jameson JL: Mutational analysis of DAX1 in patients with hypogonado-tropic hypogonadism or pubertal delay. J Clin Endocrinol Metab 1999; 84: 4497-4500.
14. Kaiserman KB, Nakamoto JM, Geffner ME, McCabe ERB: Minipuberty of infancy and adolescent pubertal function in adrenal hypoplasia congenita. J Pediatr 1998; 133:300-302.
15. Loke KY, Poh LKS, Walker AP, Tan JAMA, Tay AHN: An at y pical kindred w it h X-linked adrenal hypoplasia congenital, normal puberty, normal DAX-1 promoter and coding sequence. J Pediatr Endocrinol Metab 2000; 13: 29-36.
16. Vilain E, Le Merrer M, Lecointre C, Desan-gles F, Kay MA, Maroteaux P, McCabe ERB: IMAGe, a new clinical association of intra-uterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab 1999; 84: 4335-4340.
17. McCabe ERB: Vulnerability within a robust complex system - DAX-1 mutations and ste-roidogenic axis development. J Clin Endo-crinol Metab 2002; 87:41-43.