Ambiguous genitalia with congenital adrenal hyperplasia: a rare case | [Pakistan Paediatric Journal • 2011]

Author(s):

1. Shobha Rawlani: Dr Panjabrao Deshmukh Memorial Medical College, Maharashtra, INDIA

2. Pushpa Junghare: Dr Panjabrao Deshmukh Memorial Medical College, Maharashtra, INDIA

3. Charu Chandwani: Dr Panjabrao Deshmukh Memorial Medical College, Maharashtra, INDIA

4. Sujata Rawlani: Dr Panjabrao Deshmukh Memorial Medical College, Maharashtra, INDIA

5. Shivlal Rawlani: Dr Panjabrao Deshmukh Memorial Medical College, Maharashtra, INDIA

Abstract:

Ambiguous Genitalia is a birth defect where the external genitals do not have the typical appearance of either a boy or girl. Congenital Adrenal Hyperplasia is a inherited disease with an incidence of 1:10,000 births. It is caused most commonly due to 21-Hydrolase deficiency (21-OHD). In this condition the affected individuals shows impaired cortisol secretion, over secretion of ACTH and ambiguous genitalia to a variable degree. In the present study we report a preterm newborn female with 46 XX chromosomes presenting Ambiguous Genitalia with Adrenal Hyperplasia.

Page(s): 36-39

DOI: DOI not available

Published: Journal: Pakistan Paediatric Journal, Volume: 35, Issue: 1, Year: 2011

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