[size=20px]A normal appearing infant girl is born despite having a XY karyotype on amniocentesis.

 

Which of the following is the most likely cause of this disorder of sex development?

 

A Turner’s syndrome

 

B persistence of the fetal cloaca

 

C androgen receptor mutation

 

D Mullerian inhibiting substance deficiency

 

E 21-α hydroxylase deficiency[/size]

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C

D

c

correct answer

C androgen receptor mutation

 

Disorders of sex development (DSD) fall into four broad categories

• genetic males who are feminized (46 XY DSD, e.g. androgen insensitivity syndrome)
  
• genetic females who are masculinized (46 XX DSD, e.g. congenital adrenal hyperplasia).
  
• patients with dysgenetic gonads
  
• patients with both male and female gonadal tissue (ovotestes, previously known as true hermaphrodite)
  

Children with complete androgen insensitivity syndrome have mutations in the androgen receptor and develop a female phenotype despite an XY genotype. They often present as females with inguinal hernias.

 

The fetal cloaca normally segregates into separate urinary, reproductive and gastrointestinal tracts. Persistent cloaca is not a result of a disorder in sex development. Mullerian inhibiting substance is secreted by the fetal testis and is responsible for the disappearance of Mullerian duct derivatives in the male. Children with congenital adrenal hyperplasia have an overproduction of androgens due to problems with steroid biosynthesis. 21-α hydroxylase is the most frequent offending enzyme.

 

Patients with DSDs are best treated by multidisciplinary teams that can offer expertise in all aspects of patient care.

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very good question.

one of the common findings that needs to highlight to general practitioners and pediatric iscfused labia minora which is referred as ambigious genitalia and cause psychological trauma to the family.