Objective: To investigate the cause of hypergonadotropic hypogonadism. Design: Case report and literature review. Setting: University Departments of Pediatric Endocrinology and Obstetrics and Gynecology. Patient(s): A...Objective: To investigate the cause of hypergonadotropic hypogonadism. Design: Case report and literature review. Setting: University Departments of Pediatric Endocrinology and Obstetrics and Gynecology. Patient(s): A 13.5- year- old girl with absent puberty and growth retardation. Intervention(s): None. 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.展开更多
Van Wyk-Grumbach综合征(VWG综合征)可发生于不同年龄,多见于青春期女性,主要表现为青春期原发性甲状腺功能减退、身材矮小、骨龄发育延迟、青春期假性性早熟、乳房发育、阴道流血、卵巢和睾丸异常发育增大、卵巢囊肿,可继发垂体...Van Wyk-Grumbach综合征(VWG综合征)可发生于不同年龄,多见于青春期女性,主要表现为青春期原发性甲状腺功能减退、身材矮小、骨龄发育延迟、青春期假性性早熟、乳房发育、阴道流血、卵巢和睾丸异常发育增大、卵巢囊肿,可继发垂体瘤样增生,因患者出现卵巢囊肿、垂体瘤样增生等而易被误诊为卵巢囊肿等,进而采取不恰当的手术或药物治疗。展开更多
文摘Objective: To investigate the cause of hypergonadotropic hypogonadism. Design: Case report and literature review. Setting: University Departments of Pediatric Endocrinology and Obstetrics and Gynecology. Patient(s): A 13.5- year- old girl with absent puberty and growth retardation. Intervention(s): None. 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.