Female counterpart of shawl scrotum in aarskog-scott syndrome

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.

urogenital abnormalities; FGD1 protein; human; X-linked inheritance; Aarskog-Scott syndrome


PEDIATRIC UROLOGY

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

Correspondence address

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.

She exhibited ocular hypertelorism (Figure-1), up-slanting palpebral fissures, malar hypoplasia, anteverted nostrils, slight retrognathia, clinodactyly of the fifth fingers and joint hyperextensibility. Genital examination showed labia minora adhesions, and the clitoris was not located in its normal position, i.e., posterior to the anterior labial commissure. Instead, it emerged about 1 cm below (Figure-2).

Her brother had ocular hypertelorism (Figure-1), inner epicanthal folds, prominent ears, malar hypoplasia, small nose, broad nasal bridge, retrognathia, micropenis, bilaterally descended testes, hydrocele and partial penoscrotal transposition (Figure-2), the anus was normally placed.

Physical examination of her mother revealed ocular hypertelorism (Figure-1), malar hypoplasia, broad nasal bridge and normal female external genitalia.

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).

Abnormal location of the genital tubercle or abnormal migration of labioscrotal folds may be the origin of penoscrotal transposition, and may also lead to the abnormal location of the clitoris in the present case. The absence of similar reported cases may derive from its rarity, or this may be an under diagnosed feature of ASS. An answer to this question depends on routine evaluation of the external genitalia of female carriers.

CONFLICT OF INTEREST

None declared.

Accepted after revision: December 18, 2005

  • 1. Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, et al.: Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet. 2004; 12: 16-23.
  • 2. Pinke LA, Rathbun SR, Husmann DA, Kramer SA: Penoscrotal transposition: review of 53 patients. J Urol. 2001; 166: 1865-8.
  • 3. Moore KL, Persaud TV: The Developing Human: Clinically Oriented Embryology. Philadelphia, WB Saunders. 2003.

  • Correspondence address:
    Dr. Andréa T. Maciel-Guerra
    Dept of Medical Genetics, School of Medicine
    State University of Campinas
    Campinas, SP, 13083-970, Brazil
    Fax: + 55 19 3788-8909
    E-mail:

Publication Dates

  • Publication in this collection
    23 Oct 2006
  • Date of issue
    Aug 2006

History

  • Accepted
    18 Dec 2005
  • Received
    18 Dec 2005
Sociedade Brasileira de Urologia Rua Bambina, 153, 22251-050 Rio de Janeiro RJ Brazil, Tel. +55 21 2539-6787, Fax: +55 21 2246-4088 - Rio de Janeiro - RJ - Brazil
E-mail: brazjurol@brazjurol.com.br