Abstract
Muellerian structures and breast development are distinctive marks of androgen insensivity and gonadal dysgenesis. Clinical features of both conditions were found in thepresented case.A 17yrs.old 46,xy girl presented with amenorrhea,clitoral enlargement(4cm),well developed breasts(Tanner stage5),hirsutism,normal vagina and portio,and rudimentary uterus.The gonadotropins were elevated(LH7.6-9.1,FSH9.3-12.4μg/1),the rise in Gn-RH-test(60μg/m2)was increased(LH39.6,FSH41.1μg/l). Urinary gonadotropins were moderately elevated(9HMG-E/d).E2 ranged between 18-32 pg/ml(infantile values), T levels were stimulated(380-640pg/ml). Stimulation of the gonads with HMG(5×300E)revealed no E2 response (10-22pg/ml),but HCG(5×2000E)caused a distinct rise of T (740-2400pg/ml).Urinary estrogens were within the normal male range(15 μg/d)and urinary T was intermediate(20μg/d).Prolactin,17-OHP,ACTH, cortisol,17-OHCS,17-KS,pregnantriol,SMA12,bone age,and blood pressure were normal.After gonadectomy,the histologic examination revealed immature testicular tissue with fetal tubules,sertolicells, and interstitial complexes of leydig cells.A structure which appeared like a uterine tube was histologically undifferentiated epididymal tissue.The right gonad revealed malignant overgrowth by a germ cell tumor.While well developed breasts are features of androgen insensivity,all the other findings are consistent with partial testicular failure,probably due to a treatment with ethinylnortestosteron in early pregnancy.The breast development may be accounted for by estrogenic activity of the germ cell tumor or it may be interpretated as a considerable pubertal gynecomastia.
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Sinnecker, G., Willig, R., Stahnke, N. et al. Endocrine Studies in Male Pseudohermaphroditism. Pediatr Res 18, 1221 (1984). https://doi.org/10.1203/00006450-198411000-00123
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DOI: https://doi.org/10.1203/00006450-198411000-00123