Isolated 17,20-lyase (desmolase) deficiency in a 46,XX female presenting with delayed puberty
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Dosyalar
Tarih
2005
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier Science Inc
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Main Outcome Measure(s): Detailed biochemical, radiological, and molecular analysis, including pelvic ultrasound, basal steroid hormone analysis in serum and aspirated follicle fluid, serum steroid measurement after
ACTH (Synachten) and human chorionic gonadotropin (hCG) stimulation, and molecular analysis of CYP17.
Result(s): This girl with hypergonadotropic hypogonadism (LH 65 U/L, FSH 50 U/L) had a 46,XX karyotype,
small uterus and enlarged cystic ovaries, and markedly delayed bone age (9 years). Basal (serum, follicular) and
stimulated (serum) steroid hormone levels were consistent with isolated 17,20-lyase deficiency whereas relatively
normal P and 17-hydroxyprogesterone concentrations were detected together with very low androstenedione, T,
and E2 levels.
Conclusion(s): Isolated 17,20-lyase deficiency should be considered in the differential diagnosis of hypergonadotropic hypogonadism in 46,XX females, and follicular fluid steroid analysis is a useful adjuvant test. Failure
to detect mutations in CYP17 raises the possibility of a novel association of these phenotypes.
Açıklama
Anahtar Kelimeler
Isolated 17,20-lyase Deficiency, Delayed Puberty
Kaynak
Fertility And Sterility
WoS Q Değeri
Q1
Scopus Q Değeri
Q1
Cilt
83
Sayı
5
