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)

The growth and development data of 20 patients with the Silver-Russell syndrome (14 boys, 6 girls) were analyzed. Family history, pregnancy and delivery did not reveal any significant anomalies. Birth length was 44.0 +/- 3.0 cm (boys) and 43.8 +/- 2.1 cm (girls), birth weight 2.0 +/- 0.4 kg and 2.05 +/- 0.3 kg, respectively. At the time of diagnosis (mean age 4.1 +/- 2.2 years), height was -4.4, bone age -1.9, weight -3.7, and head circumference -1.5 standard deviations below the normal mean for age. Calculated or reached adult height corresponded to 82--94% of target height. Intelligence was normal in most patients. 8 had asymmetrical extremities, 3 an asymmetrical face. 7 of 14 boys had cryptorchidism (3 uni-, 4 bilateral), 2 incomplete masculinization, and 2 of 6 girls hypertrophy of the clitoris. Development of secondary sex characters was appropriate for bone age with exception of one boy, whose puberty was early. In 3 boys with completed pubertal development, testicular volume was small and gonadotropins (before and after LHRH) high. It is concluded that 1. the growth pattern in Silver-Russell syndrome is quite homogeneous, and rather accurate predictions are possible; 2. Intersexual genitalia do not seem to be related to endocrine factors, and 3. hypergonadotropic hypogonadism appears to be frequent in males.
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PMID:Silver-Russell syndrome. Observations in 20 patients. 52 Dec 96

Polycystic ovaries were found in a 16-year-old female with congenital absence of vagina, male-like external genitalia, and congenital adrenal hyperplasia. Masculinization was sufficiently severe to cause the patient to be reared as a male. Biochemical studies of ovarian tissue revealed hyperactivity and an imbalance of enzyme systems concerned with steroid-hormone biosynthesis, which led to production of large amounts of androgens. The pathway towards estrogens was preserved but less efficient than normal. Urinary steroid metabolites before and after hysterectomy and bilateral salpingo-oophorectomy revealed an absence of Porter-Silber chromogens and tetrahydrocortisone. Excretion of aldosterone was normal and that of corticosterone slightly higher than normal. The patterns of urinary 17-ketosteroids, pregnanediol, pregnanetriol and pregnanetriolone were similar to those commonly seen in congenital adrenal hyperplasia with steroid 21-hydroxylase deficiency. Urinary estrogens after panhysterectomy were low, being in the post-menopausal range. The pathogenesis of polycystic ovaries and their possible contribution to masculinization are discussed.
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PMID:Polycystic ovaries associated with congenital adrenal hyperplasia. 590 91

Point mutations in the androgen receptor gene cause androgen insensitivity syndromes, clinically characterized by masculinization defects in karyotypic males due to endorgan resistance to androgenic steroids. Characterization of these mutations with single strand conformation polymorphism analysis utilizing radioactive PCR can serve as a diagnostic tool for molecular subclassification of these syndromes. It is the basis for genetic counseling and for therapeutic decisions. Here we report an improved non-radioactive single strand polymorphism analysis for rapid detection of androgen receptor gene mutations in affected individuals. In addition to previously reported mutations, 10 patients with clinical features of androgen resistance were studied. DNA was isolated from peripheral blood leucocytes and exons 1 to 8 of the coding region of the androgen receptor gene amplified by PCR. Amplification products were denatured and run on non-denaturing gels. These were subjected to fixation and silver staining. Variations were directly sequenced. In all patients a different point mutation in one of the exons was detected. While one insertion mutation was found in a patient with complete androgen insensitivity, all other mutations cause amino acid substitutions. These data suggest that the described non-radioactive single strand polymorphism analysis is a useful tool for the characterization of androgen receptor gene mutations. The omission of radioisotopes is advantageous in a clinical setting. The mutations described emphasize the clinical and molecular heterogeneity of this disease.
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PMID:Detection of point mutations in the androgen receptor gene using non-isotopic single strand conformation polymorphism analysis. German Collaborative Intersex Study Group. 798 87

Background Silver-Russell syndrome (SRS) is characterized by growth retardation and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients. Case presentation The patient was born at 39 weeks with a birth weight of 1344 g. Subtle clitoromegaly warranted a thorough evaluation, which disclosed 46,XY karyotype, bilateral undescended testes, and a rudimentary uterus. Because of severe under-virilization, the patient was assigned as female. Failure to thrive, macrocephaly, and body asymmetry led to the diagnosis of SRS, confirmed by marked hypomethylation of H19/IGF2 intergenic differentially methylated region (IG-DMR). From age 9 years, progressive virilization occurred, which necessitated luteinizing hormone-releasing hormone analog (LHRHa) treatment. Gonadal resection at 15 years revealed immature testes with mostly Sertoli-cell-only tubules. Panel analysis for 46,XY-differences of sex development (DSD) failed to detect any pathogenic variants. Conclusions This is the second reported case of molecularly proven 46,XY SRS accompanied by severe under-virilization. SRS should be included in the differential diagnosis of 46,XY-DSD.
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PMID:Severe in utero under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation. 3067 99