A 2m baby who has ambiguous genitalia presents to the ED with vomiting. Labs:
Na+=125mmol/L, K+=6mmol/L. What is the most likely dx?
a. Fragile X syndrome
b. Turners syndrome
c. Noonan syndrome
d. Congenital adrenal hyperplasia
answer D
Congenital adrenal hypoplasia
autosomal recessive disorder characterized by the partial or total defect of various synthetic
enzymes of the adrenal cortex required for cortisol and aldosterone production
Clinical Presentation
- Classic presentation : Hyperkalemia, Hyponatremia, Acidosis, Ambiguous genitalia
Fragile X: learning difficulty, big head, long face, everted ears....mitral valve prolapse
Turner syndrome: female
Noonan
affects both males and females
Short stature, webbed neck, triangular facies,
hypertelorism, low set ears, epicanthal
folds, ptosis
Pectus excavatum
Right-sided CHD, pulmonary stenosis
Prader willi : characteristic face, hypotonia, hypogonadism, learning difficulty, obese, can't stop eating
DiGeorge
Cardiac abnormality (especially tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia/Hypoparathyroidism
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