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

A nation-wide survey for five "hormone receptor diseases" was carried out. For the first survey, an inquiry was sent to all hospitals in Japan having more than 200 beds, in order to determine how many patients there were between 1968-1977. A further detailed survey was carried out on patients who were reported in the first survey. The approximate numbers of patients in Japan estimated from these surveys are the following: testicular feminization syndrome (TFS), 390; pseudohypoparathyroidism (PHP), 220, nephrogenic diabetes insipidus (NDI), 280; Bartter's syndrome, 90; congenital adrenocortical unresponsiveness to ACTH (CAUA), 18. In 73 cases of TFS, partial virilization was observed in 23% (the incomplete form). Testes were found in all cases and the epididymis in 84%, whereas none of the patients had seminal vesicles. PHP consisted of 38 Type-I cases, 6 Type-II cases and 25 unclassified cases. There were 27 males and 42 females. Skeletal anomalies were found in two-thirds of the patients. Grades of hypocalcemia and soft tissue calcification were more prominent in Type I. After treatment, none of the Type-I patients showed normal urinary cyclic AMP response to parathormone, although urinary phosphate response was normalized in one and markedly improved in 4. In 78 patients with NDI, there were 67 males and 11 females. The age of the onset of NDI ranged from 0 to over 50, but 22 out of 29 cases of hereditary NDI had the onset at age 0. There seemed to be at least two subtypes; one beginning in the neonatal period or early childhood, and the other having the onset in late childhood or adult. The important initial symptoms were fever and anorexia in the early onset type. Growth retardation was remarkable in early childhood. Diuretics were effective in most of the cases. There were 22 male and 12 female patients with Bartter's syndrome. Indomethacin was effective in 9 out of 10 patients studied.
 ...
PMID:["Hormone receptor diseases" in Japan: A nation-wide survey for testicular feminization syndrome, pseudohypoparathyroidism, nephrogenic diabetes insipidus, Bartter's syndrome and congenital adrenocortical unresponsiveness to ACTH (author's transl)]. 741 26

Recent studies have established that masculinization of the male reproductive tract is programmed by androgens in a critical fetal 'masculinization programming window' (MPW). What is peculiar to androgen action during this period is, however, unknown. Studies from 20 years ago in mice implicated prostaglandin (PG)-mediation of androgen-induced masculinization, but this has never been followed up. We therefore investigated if PGs might mediate androgen effects in the MPW by exposing pregnant rats to indomethacin (which blocks PG production by inhibiting cyclooxygenase activity) during this period and then examining if androgen production or action (masculinization) was affected. Pregnant rats were treated with indomethacin (0.8 mg/kg/day; e15.5-e18.5) to encompass the MPW. Indomethacin exposure decreased fetal bodyweight (e21.5), testis weight (e21.5) and testicular PGE2 (e17.5, e21.5), but had no effect on intratesticular testosterone (ITT; e17.5) or anogenital index (AGI; e21.5). Postnatally, AGI, testis weight and blood testosterone were unaffected by indomethacin exposure and no cryptorchidism or hypospadias occurred. Penis length was normal in indomethacin-exposed animals at Pnd25 but was reduced by 26% (p<0.001) in adulthood, an effect that is unexplained. Our results demonstrate that indomethacin can effectively decrease intra-testicular PGE2 level. However, the resulting male phenotype does not support a role for PGs in mediating androgen-induced masculinization during the MPW in rats. The contrast with previous mouse studies is unexplained but may reflect a species difference.
 ...
PMID:Prostaglandins, masculinization and its disorders: effects of fetal exposure of the rat to the cyclooxygenase inhibitor- indomethacin. 2367 9