Differential Diagnosis

• It is important to eliminate underlying disorder of sex development (DSD) if associated with unilateral or bilateral undescended testis. Congenital Adrenal Hyperplasia is a diagnosis that must not be missed and should be considered in females with ambiguous genitalia. If not detected early this can lead to a salt wasting crisis due to cortisol and aldosterone deficiency with androgen excess.

Investigations

• If not concerned about DSD, no other investigation is routinely required.

• If there are concerns about DSD, investigations that may be considered are:

  • Detailed history and examination

  • Karyotype

  • Pelvic ultrasound scan

  • Urea and Electrolytes

  • Endocrine hormones: Testosterone, 17 alpha-hyroxyprogesterone, LH, FSH, ACTH, renin, aldosterone

Associated Anomalies

• Undescended testes 9.2%

• Inguinal hernia 9%

• Utricle in 11%

• Renal anomalies 1%

• Wilms tumour, renal agenesis

• Pelvic kidney, horse show kidney etc.

• Severe reflux.