Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002453 (amenorrhea)
 6,245 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyperprolactinemia with amenorrhea and galactorrhea generally has a benign clinical course without treatment. Prolonged amenorrhea due to early surgical castration or premature menopause is, however, associated with reduced bone mass and increased risk of fractures. Previous studies in hyperprolactinemic women suggested an association with decreased cortical bone density. To determine whether hyperprolactinemia is associated with reduced trabecular bone mineral, we studied 13 hyperprolactinemic women and matched normal women by quantitative computed tomographic scans of the vertebral bodies. No patient had taken bromocriptine and one patient had previously unsuccessful transsphenoidal surgery. Each patient was matched with a normal woman on the basis of race, age +/- 52 weeks, parity, exercise, tobacco use, oral contraceptive (OCP) use, and alcohol use. No subject was currently taking OCPs. Calcium, phosphorus, and protein intakes were estimated from a 3-day diet diary. The mean duration of amenorrhea was 98.9 +/- 79.7 (SD) months. The mean height, weight, serum 25-hydroxyvitamin D (25,OHD), serum 1,25 dihydroxyvitamin D [1,25(OH)2D] and daily intakes of calcium, phosphorus, and protein were not different. The bone mineral content for each patient fell within +/- SD of the mean of the normal subjects. The mean bone mineral content (mg K2HPO4 eq/ml) of the patients was 10% less than in the normal subjects (144.6 +/- 31.4 (SD) vs. 160.1 +/- 26.6, P less than 0.05). The slope of the regression of bone mineral content and age (mg K2HPO4 eq/ml X yr) was similar in patients (-2.4 +/- 1.1) and normal subjects (-2.3 +/- 1.0). We conclude that hyperprolactinemia is associated with reduced bone mineral content, but does not necessarily produce persistent acceleration of the age-related decline in bone density.
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PMID:Vertebral body bone mineral content in hyperprolactinemic women. 649 Jul 93

Congenital adrenal hyperplasia (CAH) describes a group of disorders characterized by enzyme defects in adrenal steroidogenesis. 21-hydroxylase deficiency (21-OHD) is the most commonly encountered form. The analysis of steroids in pediatric cases requires high-sensitivity assays. A 14-year-old Syrian girl was referred for evaluation of short stature, amenorrhea, and hirsutism. On physical examination, breast development was Tanner stage 1. She had a phallic clitoris with a single urogenital orifice. Laboratory findings revealed primary adrenal deficiency with high androgen levels and low levels of 17-hydroxyprogesterone (17-OHP), (<0.05 ng/mL) and estrogen. This unexpected result led to suspicion of a high-dose hook effect. The measurement was repeated after 1/10 dilution of serum, and a high level of 17-OHP (115.4 ng/mL) was detected with the same test-enzyme-linked immunosorbent assay (ELISA). Simple virilizing form of CAH (21-OHD) was suspected and confirmed with genetic analysis. After initiation of glucocorticoid therapy, breast development was noted along with a decrease in testosterone level and an increase in estrogen level. To our knowledge, this is the first case report of hook effect for 17-OHP immunoassay in a patient with 21-OHD. High-dose hook effect should be suspected in patients with CAH when the test results are incompatible with one another. Additionally, this case demonstrates that a high testosterone level can block aromatase activity and consequently also estrogen production and breast development.
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PMID:High-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency. 2677 45