Female pseudohermaphroditism with phallic urethra in the offspring of a mother with an adrenal tumor.
BACKGROUND
Female pseudohermaphroditism is a disorder in which 46,XX females with ovaries do not develop as normal women. This disorder is caused by overexposure of a female fetus to androgens during intrauterine life. We describe a masculinized female infant who was born to a mother who had virilizing signs.


METHODS
The patient had a normally formed phallus and a completely fused scrotum. Baseline as well as stimulated adrenal hormones and testosterone values were in the normal range in the infant. No androgens were given to the mother during pregnancy. Serum 17-OHP, DHEA-S, and testosterone levels were all elevated in the mother. Imaging studies revealed a tumor mass over the left kidney pole. Histologically it was an adrenal tumor.


CONCLUSIONS
Although a maternal adrenal tumor is a rare cause of female pseudohermaphroditism, the physician must bear this in mind when confronted with a newborn or infant with 46,XX karyotype and cryptorchidism with a phallic urethra.
Alvarez-Nava
Francisco
F
Facultad de Medicina de la Universidad del Zulia, Venezuela. falvareznava@yahoo.com
Soto
Marisol
M
Temponi
Angel
A
Lanes
Roberto
R
Alvarez
Zunilde
Z
D000310:Adrenal Gland Neoplasms / Q000150:complications* / Q000601:surgery; D000328:Adult; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D005260:Female; D006728:Hormones / Q000097:blood; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014521:Urethra / Q000002:abnormalities* / Q000473:pathology
D006728:Hormones