Abstract
The patient to be described weighed 1210 gm at birth, with estimated (Dubowitz) gestation of 38 weeks. The mother had congenital hydrocolpos, hydronephrosis and bicornuate uterus. Length was 37 cm; head circumference 30 cm. There were hypoglycemia and thrombocytopenia in the neonatal period. The face was triangular, with the appearance of a large head and small chin, typical for SR dwarfism. The phallus was 2 cm long and was partially concealed by a rostral investment of scrotal folds. Testes were palpable bilaterally in the canals. Karyotype was 46,XY. Voiding cystourethrogram revealed a urethra with male configuration, as well as a 9 mm hypoplastic vagina posterior to the urethra. This is consistent with failure of Mullerian inhibiting factor to function in fetal life. Several patients with the SR syndrome have been found to have obstructive abnormalities of the GU system (Pediatrics 51:216, 1973). At 8 month follow-up the scrotum was almost flat, with only one testis barely palpable in the right canal. Literature review on both sexes with the SR syndrome revealed that 28% of documented cases were males with abnormal genitalia. Several reports described adequate masculinization at puberty. The latter finding is important to bear in mind when consideration is given to the possibility of assigning a female gender role if the penis is small.
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Gardner, L., Hakanson, D., Hartenstein, H. et al. 1202 ABNORMAL GENITALIA IN MALES WITH SILVER-RUSSELL (SR) DWARFISM: A NOT INFREQUENT COMPLICATION. Pediatr Res 15 (Suppl 4), 643 (1981). https://doi.org/10.1203/00006450-198104001-01228
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DOI: https://doi.org/10.1203/00006450-198104001-01228
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