A 28-day-old phenotypic female infant was admitted to pediatric endocrinology clinic of Al-Zahra Hospital, affiliated to Isfahan University of Medical Sciences, because of poor weight gain and lethargy.
She was a full-term infant with a birth weight of 3250 gr (50th percentile), length of 51 cm (50th percentile) and head circumference of 34 cm (50th percentile).The patient had no perinatal problem. She was the 1st child of nonconsanguineous parents.
At the time of admission, she was lethargic without history of vomiting or diarrhea.
There was not any familial history of similar presentation or features endocrine disease.
She had no history of drug consumption except vitamin A+D.
She was lethargic, had depressed fontanele. She had mild dehydration and decreased skin turgor.
In skin examination, she had mild hyperpigmentation, including oral cavity.
External genitalia seemed normal female type with no ambiguity. There was not any abdominal or inguinal mass in abdominal examination.
Her body weight, length and head circumference were 2900, 51 cm and 33.5 cm, all of them were beneath the 5th percentiles.
Her blood pressure was 60/40 mmHg, respiratory rate was 39/min, pulse rate was 112/min and body temperature was 37.1°C.
The initial biochemical examinations were as follows; serum sodium, 129 meq/lit(N:135-145) ; serum potassium, 6.1 meq/lit (N: 3.5-5.5);blood sugar, 45 mg/dl; blood urea nitrogen, 73 mg/dl; serum creatinine, 0.5 mg/dL; C-reactive protein ,negative; blood culture, negative. The results of venous blood gas were as follows; pH: 7.3 HCO3=11.9 mmol/L, PCO2= 35 mmHg which represented metabolic acidosis.
The results of hormonal tests were as follows; Cortisol: 0.2 μg/dl, ACTH: >1000 pg/ml, 17 OHP: 0.3 ng/ml.
Ultrasonographic examination revealed small hypoplastic uterus (6*7*3 ml) or atretic ovaries and adrenal glands had normal sizes.
Clinical Course and Follow-up
First, the patient hydrated with normal saline. Thereafter, considering hyponatremia, hyperkalemia, metabolic acidosis and decreased cortisol level and increased ACTH level, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid (hydrocortisone) and mineralocorticoid (fludrocortisone) and sodium chloride was initiated.
After replacement therapy, electrolyte abnormalities were corrected during first week and the patient was discharged from hospital with good clinical condition.
She recommended referring for follow up. During follow-up, she had good clinical condition, with normal laboratory results except for 17 OHP which was lower during the period.
At 6-years old, the patient referred with high blood pressure and adrenal insufficiency because of arbitrary drug discontinuation by mother. Renal Doppler ultrasonography and scan was performed which was normal. Regarding the recommendation of pediatric nephrologist fludrocortisone and sodium chloride was discontinued and treatment continued with hydrocortisone . Ultrasonography revealed the testicles in the abdominal cavity and uterus was not detected in pelvis. Orchiectomy was performed. Chromosome study showed 46XY pattern.
On her most recent visit at the age of 6 years, the patient had no hyperpigmentation. Her height was 110 cm (10-25th percentile), weight 23 kg (75-90th percentile). Her last laboratory tests results were as follows; Na: 142 mmol/l, K: 4.5 mmol/l ,17OHP: 0.1 ng/ml, ACTH: 22 pg/ml, Renin:50.8 pg/ml, Aldosterone: 105 pg/ml.