BY DR SEHRISH ANJUM PGT PAEDIATRICS HOLY FAMILY HOSPITAL RAWALPINDI

Name Abdullah Fathers name Abdul Waleed Age 1 year Address Kahuta MOA emergency DOA

According to mother Abdullah was born through vaginal delivery at full term pregnancy with immediate cry, product of consanguineous marriage, remained well till 5 th day of life and then developed vomiting.

vomiting (5 -6 episodes a day,large in amount, non projectile, non bilious containing milk,no h/o blood in it).No h/o fever, constipation, abdominal distention, loose motion, jaundice, cough, fits and urinary complaints.

On examination child was irritable,dehydrated with normal vitals and anthropometric measures below 5 th centile. On abdominal examination soft, non distended,no visceromegaly,bowel sounds were audible.

Genital examination showed enlarged clitoris with single opening, absent gonads and increased pigmentation. Rest of systemic examination was Unremarkable.

Ambiguous genitalia likely due to  Congenital adrenal hyperplasia  5 alpha reductase deficiency  Androgen insensitivity syndrome

CBC  TLC10.8 x 1o 3  Hemoglobin 11.8g/dl  Platelets 367 x 10 3 RENAL FUNCTION TESTS AND SERUM ELECTROLYTES  Urea45 mg/dl  Creatinine0.6mg/dl  Serum sodium124mEq/L  Serum potassium 6.0mEq/L  Serum chloride 96mEq/L

ABG’S showed Metabolic acidosis  PH 7.29  Pco2 30  HCO3 10  PO2 96 BLOOD SUGAR RANDOM  54mg/dl

ULTRASOUND ABDOMEN AND PELVIS Shows female internal genital organs (ovaries and uterus )and absent testes.

SERUM 17(OH) progesterone >40nmol/L KARYOTYPING 46XX female

4 years old sibling has similar complaints of vomiting (off and on ) since birth and abnormal genitalia and was diagnosed as CAH.

 Congenital Adrenal Hyperplasia

 Patient was admitted  Rehydrated  Hydrocortisone and fludrocortisone were started  Was improved, vomiting settled,serum electrolytes and ABG’s were normalized

Child is on regular follow up with us for  anthropometric measures  Blood pressure  Serum electrolytes  17(OH) progesterone)  Counselling of parents regarding management and risk involved in future pregnancies is also done. Consultation with pediatric surgeon for reconstructive surgery