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[Familial incidence of bilateral anorchia. Study of three siblings (author's transl)]
Abstract:
Three siblings consulted because of hypogonadism. Physical examination revealed absence of secondary sexual characteristics and infantile genitalia. Increased serum concentrations of LH and FSH were found with abnormal high response to the stimulus with 100 Ug LH-RH. Plasma testosterone concentrations were 0.7, 0.5, and 0.3 ng/ml, respectively; no change in these values was observed after administering 5.000 UI HCG per day during 1 week. Patients underwent a laparotomy but no testicular tissue remnants were found. Whether vascular anomalies, trauma, infectious processes or other factors are responsible is not known. The possibility that genetic abnormalities could be involved in the pathogenesis of this entity is suggested.