Abstract
A 7 month old child raised as a female had ambiguous genitalia with clitoromegaly, posterior labial fusion and a urogenital sinus. Her peripheral karyotype was 46 XY. She responded to hCG stimulation with an increase in serum testosterone from 59 to 211 ng/dl despite elevated basal gonadotropins (LH 34 ng/ml , FSH 736 ng/ml) which had suggested gonadal failure. At age 15 months, her LH (46 ng/ml) and FSH (670 ng/ml) remained high and she underwent laparotomy which revealed a septate vagina, a bicornuate uterus and fallopian tubes (Müllerian structures) as well as bilateral vasa deferentia (Wolffian structures). A right streak gonad contained multiple Müllerian ducts, whorls of collagen and hyperplastic steroid-secreting cells but no ova or follicles. A left intra-abdominal testis appeared normal by both light and electron microscopy with abundant germ cells and appropriate Leydig and Sertoli cell ultrastructure for age. No evidence for malignant change was seen.
The elevated FSH and persistent Müllerian structures in this child had suggested deficient inhibin and antimüllerian hormone, respectively. The Sertoli cell is the presumed source of these substances, however, no anatomic abnormality of the Sertoli cell could be demonstrated.
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Rich, B., Lucky, A., Rosenfield, R. et al. 334 ELEVATED GONADOTROPINS, PERSISTENT MÜLLERIAN STRUCTURES, AND NORMAL TESTICULAR ULTRASTRUCTURE IN A GIRL KITH MIXED GONADAL DYSGENESIS. Pediatr Res 12 (Suppl 4), 419 (1978). https://doi.org/10.1203/00006450-197804001-00339
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DOI: https://doi.org/10.1203/00006450-197804001-00339