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MINNIE B. GOLDBERG, ALICE F. MAXWELL, MALE PSEUDOHERMAPHRODITISM: PROVED BY SURGICAL EXPLORATION AND MICROSCOPIC EXAMINATION: A CASE REPORT WITH SPECULATIONS CONCERNING PATHOGENESIS, The Journal of Clinical Endocrinology & Metabolism, Volume 8, Issue 5, 1 May 1948, Pages 367–379, https://doi.org/10.1210/jcem-8-5-367
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Abstract
WHEN an unusual case presents itself and challenges the validity of current concepts for its explanation, one should be prepared for surprises. The following case found us totally unprepared for the answer.
J. W., a 19-year-old girl of Scandinavian-Scotch-Irish ancestry, was referred for study because she had never menstruated. She was the middle one of three sisters in a family in which the only suggestion of endocrine abnormality was the occurrence of unusually tall women (6 ft.) on the maternal side.
Born at term of an uneventful pregnancy, the patient had been a healthy, apparently normal girl who had had the usual quota of uncomplicated childhood diseases. The first sign of puberty appeared at 15 years when her breasts began to develop. Two years later she had attained a height of 69 inches and required a size 34 brassiere. The fact that she had not menstruated did not seem significant as her mother's menarche did not occur until her seventeenth year and the elder sister's in her sixteenth year. When at 18 years of age the menses had not appeared, the patient sought medical aid and consulted one of us (A. F. M.). Pelvic examination revealed a rudimentary vagina and the absence of uterus and cervix. Ethinyl estradiol, 0.1 mg. daily for two weeks each month, was prescribed. This therapy, continued for four months, resulted only in increased size of the breasts. Further investigation was interrupted when the patient developed a pleura)! effusion with fever, cough and night sweats. A diagnosis of tuberculous pleurisy necessitated six months' hospitalization at the San Francisco Tuberculosis Hospital during which time hormone treatment was suspended. In February, 1946, she was discharged from the hospital as cured, and soon after was referred for further study of her endocrine condition.