Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: Case report and literature review

Journal of Assisted Reproduction and Genetics

Volumn 23, Issue 9-10, 2006, Pages 377-380

  Sugino, Y ^a   Usui, T ^b   Okubo, K ^a   Nagahama, K ^a   Takahashi, T ^a   Okuno, H ^b   Hatayama, H ^c   Ogawa, O ^a   Shimatsu, A ^b   Nishiyama, H ^a  

^a KYOTO UNIVERSITY   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION KYOTO MEDICAL CENTER   (Japan)

^c Adachi Hospital   (Japan)

Author keywords

21 hydroxylase deficiency; Congenital adrenal hyperplasia; Genotyping; TESE ICSI

Indexed keywords

CORTICOTROPIN; DEXAMETHASONE; FOLLITROPIN; GLUCOCORTICOID; HYDROXYPROGESTERONE; LUTEINIZING HORMONE; STEROID 21 MONOOXYGENASE; TESTOSTERONE;

ADULT; ARTICLE; AZOOSPERMIA; CASE REPORT; CONGENITAL ADRENAL HYPERPLASIA; CYP21 GENE; GENE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HORMONE BLOOD LEVEL; HORMONE SUBSTITUTION; HUMAN; INTRACYTOPLASMIC SPERM INJECTION; KARYOTYPE 46,XY; MALE; MALE INFERTILITY; PREGNANCY; PRIORITY JOURNAL; STEROID 21 MONOOXYGENASE DEFICIENCY; TESTICULAR SPERM EXTRACTION;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; DEXAMETHASONE; FEMALE; GENOTYPE; GLUCOCORTICOIDS; HUMANS; INFERTILITY, MALE; MALE; PREGNANCY; PREGNANCY OUTCOME; SPERM INJECTIONS, INTRACYTOPLASMIC; SPERM MOTILITY; STEROID 21-HYDROXYLASE;

EID: 33845547109     PISSN: 10580468     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10815-006-9062-0     Document Type: Article

References (11)

1. Jaaskelainen J, Levo A, Voutilainen R, Partanen J. Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population. J Clin Endocrinol Metab 1997; 82:3293-7
2. New MI. An update of congenital adrenal hyperplasia. Ann N Y Acad Sci 2004; 1038:14-43
3. Bonaccorsi AC, Adler I, Figueiredo JG. Male infertility due to congenital adrenal hyperplasia: testicular biopsy findings, hormonal evaluation, and therapeutic results in three patients. Fertil Steril 1987; 47:664-70
4. Murphy H, George C, de Kretser D, Judd S. Successful treatment with ICSI of infertility caused by azoospermia associated with adrenal rests in the testes: case report. Hum Reprod 2001; 16:263-7
5. Tiitinen A, Valimaki M. Primary infertility in 45-year-old man with untreated 21-hydroxylase deficiency: successful outcome with glucocorticoid therapy. J Clin Endocrinol Metab 2002; 87:2442-5
6. Wischusen J, Baker HW, Hudson B. Reversible male infertility due to congenital adrenal hyperplasia. Clin Endocrinol (Oxf) 1981; 14:571-7
7. Mirsky HA, Hines JH. Infertility in a man with 21-hydroxylase deficient congenital adrenal hyperplasia. J Urol 1989; 142:111-3
8. Augarten A, Weissenberg R, Pariente C, Sack J. Reversible male infertility in late onset congenital adrenal hyperplasia. J Endocrinol Invest 1991; 14:237-40
9. Iwamoto T, Yajima M, Tanaka H, Minagawa N, Osada T. A case report: reversible male infertility due to congenital adrenal hyperplasia. Nippon Hinyokika Gakkai Zasshi 1993; 84:2031-4 (Japanese)
10. Kalachanis I, Rousso D, Kourtis A, Goutzioulis F, Makedos G, Panidis D. Reversible infertility, pharmaceutical and spontaneous, in a male with late onset congenital adrenal hyperplasia, due to 21-hydroxylase deficiency. Arch Androl 2002; 48:37-41
11. Speiser PW, Dupont B, Rubinstein P and New MI. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985; 37:650-67