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BY
DR SEHRISH ANJUM
PGT PAEDIATRICS
HOLY FAMILY HOSPITAL RAWALPINDI
Name
Fathers name
Age
Address
MOA
DOA
Abdullah
Abdul Waleed
1 year
Kahuta
emergency
12-07-2015
According to mother Abdullah was born
through vaginal delivery at full term pregnancy
with immediate cry , product of
consanguineous 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 ,dehydrated
with normal vitals and anthropometric
measures below 5th 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
 TLC
 Hemoglobin
 Platelets
10.8 x 1o3
11.8g/dl
367 x 103
RENAL FUNCTION TESTS AND SERUM ELECTROLYTES





Urea
Creatinine
Serum sodium
Serum potassium
Serum chloride
45 mg/dl
0.6mg/dl
124mEq/L
6.0mEq/L
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