Abstract
Objective:To describe the mode of presentation and frequency of external genital anomalies in disorder of sex development (DSD)Methods:This cross-sectional study was conducted at Children Hospital & Institute of Child Health, Lahore from January to December, 2016 on Children with DSD above 10 years of age. A detailed history and physical examination were done. Positive findings were recorded on a predesigned proforma and analyzed by SPSS 21. Karyotyping on blood samples was done to determine their genetic sex.Results:Out of 83 DSD children, 67% (n=56) were assigned a female sex at birth of which 9% (n=5) had ambiguous genitalia. Male sex at birth was given to 33% (n=27) of which 96% (n=26) had genital ambiguity. Mode of presentation other than ambiguous genitalia were delayed puberty, amenorrhea, hirsuitism, gynaecomastia, cyclic hematuria etc. Clitoromegaly was the main finding in 62.5% (n=5) and micropenis in 45% (n=9). Karyotypic sex of 56 female sex of rearing was 46XX 80% (n=45), 45X0 13% (n=7), XXX 2% (n=1) and 46 XY in 5% (n=3). Karyotypic sex of 27 male sex of rearing was 46XY in 78% (n=21), 46XX in 15% (n=4) and 47XXY in 7% (n=2).Conclusion:Disorders of sex development presented with a wide spectrum of external genital anomalies ranging from clitoromegaly in females to micropenis and hypospadias in males. There was also an extreme diversity in mode of presentation of these cases including pubertal delay, amenorrhea in females and gender confusion disorders.
Highlights
The most fundamental aspect of early human development is the establishment of sex which is strictly controlled by a number of genes
A ruler was used to measure the size of stretched phallus on dorsal aspect from pubic symphysis up to glans penis and a stretched penile length (SPL) less than 2.5 standard deviations below the mean for age was considered as micropenis
A female sex at birth was given to 67% (n=56) and a male sex at birth was given to 33% (n=27) by their parents
Summary
The most fundamental aspect of early human development is the establishment of sex which is strictly controlled by a number of genes Disorders of sex development (DSD) are the congenital conditions in which the development of chromosomal, gonadal or anatomical sex is atypical.[3] In 2006, Lawson Wilkins Paediatric Endocrine Society (LWPES) and European. Society for Paediatric Endocrinology (ESPE) classified these disorders into three diagnostic categories: 46, XY DSD (formerly male pseudohermaphrodites), 46 XX DSD (formerly female pseudohermaphrodites) and sex chromosome DSD.[4]. Genital ambiguity is the most common presentation in DSD with a worldwide prevalence of about 1:4500.5 Congenital adrenal hyperplasia (CAH) is the most common cause of ambiguous genitalia in females with an incidence of 1 per 15000 live births in Great Britain.[6] In Germany 2/10,000 cases were reported with ambiguous genitalia at birth.[7]
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