Male Pseudohermaphroditism
Donna J. Levy MD1
Lenore S. Levine MD1
Maria I. New MD1
1 Division of Pediatric Endocrinology, Department of Pediatrics, The New York Hospital-Cornell Medical Center, New York
Male pseudohermaphroditism is the condition of incomplete male differentiation of the external genitalia in an individual with a Y chromosome. The gonads of the male pseudohermaphrodite, when present, are either streak gonads or testes.
A wide range of disorders and phenotypic presentations are encompassed by the term male pseudohermaphroditism. The following case describes a male pseudohermaphrodite who presented with ambiguous genitalia. However, as will be discussed in greater detail below, the external genitalia of male pseudohermaphrodites may be unambiguously female or may appear to be almost completely masculinized.
CASE HISTORY
The infant, a 9 lb 3 oz product of a full-term gestation, was born to a 23-year-old gravida 1, para O mother via normal spontaneous vaginal delivery. Pregnancy was uncomplicated and there was no history of maternal ingestion of medication. At birth, ambiguity of the external genitalia was noted with a 1-cm phallus, one opening on the perineum, and a small palpable mass in each of the large unfused labia. No uterus was palpable on rectal examination. Serial serum electrolytes remained normal. Genetic evaluation revealed a chromatinnegative buccal smear, with Y fluorescence. Karyotype analysis of peripheral lymphocytes revealed a 46, XY chromosomal complement. Radiologic studies included an excretory urogram revealing normal functioning kidneys with intact pelvocalyceal systems, ureters, and bladder, and a blind-ending vagina, with no evidence of cervical indentation. Base line 24-hour urinary 17-ketosteroid and 17-hydroxycorticosteroid determinations were all normal.
