Gonadal dysgenesis diagnosed in infancy.

The patient was a 11%-month-old white female infant, whose mother was gravida III, para III. The pregnancy was entirely normal, with no virus infections or irradiation during the first trimester. The patient had edema of the dorsa of the hands and feet at birth. When she was first seen at 23 months the edema of the hands had subsided and the skin was very lax. The dorsa of the feet still exhibited pitting edema. In addition, she had a short neck, low set ears, cutis laxa in the neck region, a shield-like chest with widely separated, hypoplastic nipples, a high arched palate, telangiectasia of the cheek and forehead, and hypoplasia of fingernails and toenails. The blood pressure was normal and femoral pulses were palpable. The external genitalia were normal. She was in the third percentile for height and weight on the Stuart growth curve, in contrast to her two older siblings, wllo had always been in the ninetieth percentile. Buccal smears revealed a negative sexchromatin pattern. A diagnostic pneumopenitoneum at 53 months of age revealed an indication of a small uterus with no demonstrable ovaries. There were no detectable levels of urinary gonadotropins at 4%, 5 and 6 months of age, but at 10 months between 0 and 5 mouse units were reported. Although these patients usually develop increased urinary gonadotropins at puberty, an investigator has reported’ tllree patients with gonadal dysgenesis who excreted increased amounts of gonadotropins in urine before puberty, the youngest being 2 years 8 months old. Between 2 and 4 months of age the patient developed an infection of the urinary tract that indicated tile possibility of a renal anomaly. Intravenous and retrograde urograms revealed normal findings, except for a bifid renal pelvis. A chromosomal count revealed five cells, with a diploid number of 45. Buccal smears from the parents were normal.