The purpose of this study was to classify and determine the underlying etiologies of children presented with
ambiguous genitalia at a busy Pediatric Endocrine unit of tertiary care hospital endeavoring services to heavy referrals.
Resultantly, the patients with delayed milestones, presence of
ambiguous genitalia, mental problems and spontaneous miscarriages in couples are referred for karyotyping by the clinicians/ physicians.6
In conclusion, the case reported here presented with
ambiguous genitalia and exisiting aromatase deficiency, findings which were due to a novel mutation in the CYP19A1 gene.
CAH due to 21-hydroxylase deficiency is the most common cause of
ambiguous genitalia in genotypically normal female infants (46XX).
Advice on the management of
ambiguous genitalia to a young endocrinologist from experienced clinicians.
[1] These include undescended testes,
ambiguous genitalia, hydronephrosis, bladder extrophy, cloacal extrophy, patent urachus, polycystic kidneys, hypospadias, bifid scrotum, posterior urethral valves, absent kidney, horseshoe kidney, renal cyst and epispadias.
An experienced multidisciplinary team is required for the proper care of children with
ambiguous genitalia, which is usually found in tertiary and university care centers [1-3].
(2,11)
Ambiguous genitalia, sodium, and potassium homeostasis disorders are signs of CAH.
When Aubrey was born in 2011 the parents discovered they had an intersex baby born with
ambiguous genitalia.
When Aubrey was born in 2011 the parents discovered they had an intersex baby born with
ambiguous genitalia. It is a similar condition to that which current I'm A Celebrity star Lady Colin Campbell had at birth.
Four-year-old Aubrey was born in 2011 with
ambiguous genitalia and parents Michelle and Kyle decided the youngster should be a female.
Should
ambiguous genitalia be surgically "normalized" during infancy?