FEMALE
COUNTERPART OF SHAWL SCROTUM IN AARSKOG-SCOTT SYNDROME SUZANA G. MORAES, G. GUERRA-JUNIOR, A. T. MACIEL-GUERRA Institute of Biology and School of Medicine, State University of Campinas, UNICAMP, Campinas, Sao Paulo, Brazil ABSTRACT Aarskog-Scott syndrome (ASS) is an X-linked disorder characterized by facial, skeletal and genital anomalies, including penoscrotal transposition in males. We report on a girl from a family with ASS who exhibits a transposition of the clitoris. Key
words: urogenital abnormalities; FGD1 protein, human; X-linked
inheritance; Aarskog-Scott syndrome INTRODUCTION Aarskog-Scott syndrome (ASS) is an X-linked disorder caused by mutations in the FGD1 gene (Xp11.21) and characterized by facial, skeletal and genital anomalies (OMIM 305400). The main features are short stature, ocular hypertelorism, brachydactyly, and penoscrotal transposition (shawl scrotum) in males (1). Female carriers often show some minor manifestations of the disorder, especially in the face and hands. Penoscrotal transposition is a rare abnormality of the external genitalia in which the scrotum is malpositioned superior to the penis. As far as we are concerned, there are no previous reports on a similar female genital anomaly. CASE REPORT The
patient, a 5-year-old girl, was evaluated after the diagnosis of ASS in
her 17-day-old brother, who exhibited micropenis. She was born to an 18-year-old
woman and her 21-year-old unrelated husband, and her mother complaint
that the girl had no clitoris. COMMENTS The
etiology of penoscrotal transposition remains uncertain (2). Embryological
origin of the penis and scrotum are respectively the genital tubercle
and labioscrotal folds. At the end of the sixth week of development, males
and females have indistinguishable external genitalia. The penis and scrotum
achieve their usual arrangement when, under the influence of androgens,
the genital tubercle elongates to become the penis, while migration of
labioscrotal folds brings the latter to a caudal and dorsal position to
the penis, where they fuse in the midline (3). CONFLICT OF INTEREST None declared. REFERENCES
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