Background: 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia, a family of autosomal recessive disorders involving impaired synthesis of cortisol by the adrenal cortex. Females with severe, classic 21-hydroxylase deficiency are exposed to excess androgens prenatally and are born with virilized external genitalia. This form is further divided into the simple virilizing form and the salt-wasting form, in which aldosterone production is inadequate which predispose to life-threatening salt-wasting crises.
Clinical case: Our patient is a female presented at the age of 14 days with fever, poor feeding, and lethargy. She was born full term, normal vaginal delivery without complication. Mother was healthy with regular prenatal care. She did not have hirsutism and was not taking any medications. Parents are related with no history of neonatal deaths or infertility in the family. Patient presented febrile, lethargic with signs of severe dehydration with normal blood pressure. Skin was hyper-pigmented. External genitalia were normal with 2 labial folds and two opening (urethral/vaginal) without palpable gonads. It was hyper-pigmented with mild cliteromegaly. Investigations showed high anion gap metabolic acidosis. Electrolytes showed sodium of 114 mEq/l (reference range 135145 mEq/l), potassium of 7.3 mEq/l (reference range 3.55.0 mEq/l). Ammonia and lactic acid were normal. Hyponatremia was corrected gradually and she was started on hydrocortisone as stress dose then maintenance. 17-hydroxyprogesterone level was 2541 ng/dl and 2946 ng/dl pre and post ACTH stimulation respectively (reference range <630 ng/dl). Androstenedione level was 5.44 ng/ml (reference range 0.180.80 ng/ml). 11-deoxycortisol level was 0.34ug/dl (reference range <1 μg/dl). Testosterone level was 11.4 nmol/l (reference range 0.420.72 nmol/l). Aldosterone was <22 ng/dl (reference range 416 ng/dl). Renin level was >550. ACTH level was 196 pmol/l (reference range 1.613.9 pmol/l). DHEAS level was 27 mcmol/l (reference range 0.8611.7 mcmol/l). Estradiol level was 182 pmol/l (reference range 22139 pmol/l). Chromosomal analysis showed 46XX. Pelvic ultrasound showed normal uterus and ovaries. Patient was diagnosed with classic 21-hydroxylase deficiency and was started on oral hydrocortisone and fludrocortisone.
Conclusion: A cardinal feature for females with classic 21-hydroxylase deficiency is genital ambiguity and salt wasting. Like our patient we can consider classic 21 hydroxylase deficiency in females with normal external genitalia and hyper-pigmented skin presenting with salt loosing crisis. If the disorder is not recognized and treated patient may suffer from fatal hypovolemia and shock.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology