CASE PRESENTATION`BY

DR SEHRISH ANJUM PGT PAEDIATRICS

HOLY FAMILY HOSPITAL RAWALPINDI

Name Abdullah Fathers name Abdul WaleedAge 1 yearAddress Kahuta MOA emergency DOA 12-07-2015

DEMOGRAPHIC DETAILS

According to mother Abdullah was bornthrough vaginal delivery at full term pregnancywith immediate cry , product ofconsanguineous marriage , remained well till 5th 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 ,dehydratedwith normal vitals and anthropometric measures below 5th centile .On abdominal examination soft , non distended ,no visceromegaly ,bowel sounds were audible.

Genital examination showed enlarged clitoriswith single opening, absent gonads andincreased pigmentation.Rest of systemic examination was Unremarkable.

Ambiguous genitalia likely due to

Congenital adrenal hyperplasia 5 alpha reductase deficiency Androgen insensitivity syndrome

DIFFERENTIAL DIAGNOSIS

CBC TLC 10.8 x 1o3

Hemoglobin 11.8g/dl Platelets 367 x 103

RENAL FUNCTION TESTS AND SERUM ELECTROLYTES Urea 45 mg/dl Creatinine 0.6mg/dl Serum sodium 124mEq/L Serum potassium 6.0mEq/L Serum chloride 96mEq/L

INVESTIGATIONS

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 ofvomiting (off and on ) since birth andabnormal genitalia and was diagnosed as CAH.

Congenital Adrenal Hyperplasia

FINAL DIAGNOSIS

Patient was admitted Rehydrated Hydrocortisone and fludrocortisone were

started Was improved, vomiting settled ,serum

electrolytes and ABG’s were normalized

MANAGEMENT

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

THANK YOU