Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042755 (masculinization)
 2,562 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Persistent amenorrhea, an uncommon sequela of oral contraceptive (OC) use, would not be a major problem except for the fact that an estimated 50 million women worldwide use OCs. Following OC use, women often experience some delay in resuming normal menses, but according to most studies, fewer than 1% fail to begin menstruating regularly within 6 months. In about 1/2 of this small percentage of women, failure to resume normal menses within 6 months is caused by an identifiable underlying disorder. The remaining 1/2 are considered to have "postpill amenorrhea," the result of a disruption of the normal hypothalamic-pituitary-ovarian feeding mechanism, which may be reversible with appropriate treatment. In evaluating patients with postpill amenorrhea, it is important to rule out premature ovarian failure, polycystic ovary syndrome, weight loss, and hyperprolactinemia before arriving at a diagnosis of idiopathic postpill amenorrhea. Prior to 6 months, detailed laboratory evaluation is not indicated, but after 6 months of amenorrhea, the history and physical status should again be carefully evaluated. Any history of weight change, galactorrhea, hirsutism, headaches, or "hot flashes" should be noted. On examination, evidence of hirsutism, virilization, expressible galactorrhea, or ovarian enlargement should be sought. The presence of any of these findings warrants laboratory testing. Pregnancy should always be excluded before further testing. If the patient shows no clinical evidence of premature ovarian failure, polycystic ovaries, anorexia nervosa, or hyperprolactinemia, or if laboratory evaluation fails to confirm clinical suspicions, it is appropriate to wait another 6 months before further evaluation. These disorders may be differentiated from idiopathic postpill amenorrhea by measuring serum levels of gonadotropins, estradiol, testosterone, and prolactin and by sella polytomography. It is important to define whether the treatment objective is resumption of a normal menstrual pattern or restoration of fertility, or both, for therapy will differ depending upon the objective. Ovulation can be induced with clomiphene or bromocriptine in 50-75% of women. Rarely, human menopausal gonadotropin and human chorionic gonadotropin may be needed. If fertility is not an issue, cyclic estrogen and progesterone may be useful to maintain adequate estrogen effects but will obviously continue to suppress the hypothalamic-pituitary-ovarian axis.
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PMID:Management of post-pill amenorrhea. 1227 95

We report on an adolescent girl with premature ovarian failure (POF), de novo unbalanced translocation X;15(q24;q26.3) with partial Xq24 duplication, and absence of pubic and axillary hair. Endocrine assessment showed normal adrenal and ovarian function. Chromosomal abnormality was identified by standard cytogenetic methods, array-CGH, and FISH analysis. Mutation analysis showed normal androgen receptor genes. Pubic and axillary hair began developing during estrogen + progesterone therapy. Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence.
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PMID:Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3). 2042 41