OVARIAN agenesis (congenital aplasia of the ovaries) usually is associated with short stature, multiple congenital abnormalities, sexual infantilism, and high urinary gonadotropins. Although shortness of stature may be present from early childhood, the diagnosis of ovarian agenesis has seldom been made until after the age of puberty, when sexual infantilism calls attention to the related gonadal deficiency. However, Silver1 has reported a complete study of a proved case with the characteristic signs of the syndrome in which elevated levels of urinary gonadotropins were found at the age of 2 years 8 months. The diagnosis was confirmed when exploratory laparotomy and biopsy of an ovary disclosed aplasia of these organs associated with a rudimentary uterus.
Besides Silver's case of ovarian agenesis in a prepubertal girl, other studies before the age of 14 years included one reported by van Creveld and de Vaal,2 who have observed "a girl of 5
SILVER HK, KEMPE CH. OVARIAN AGENESIS (CONGENITAL APLASTIC OVARIES) IN CHILDREN. AMA Am J Dis Child. 1953;85(5):523–530. doi:10.1001/archpedi.1953.02050070538001
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