A newborn baby presents with following clinical problem. Physical examination reveals: tachycardia, hypotension and irritability. USG was done which revealed normal ovaries. On testing , child karyotype is 46 XX. Which of the following biochemical abnormality is not seen in the above clinical scenario?
Genital image shows enlarged clitoris with scrotum like structure possibly due to labial fusion. The baby girl most likely has CAH (congenital adrenal hyperplasia) which is most likely due to 21 alpha hydroxylase deficiency. CAH: mutations in genes encoding steroidogenic enzymes involved in glucocoicoid synthesis. Exhibit glucocoicoid deficiency. Depending on step of enzymatic block excess production of mineralocoicoids deficient production of sex steroids The diagnosis of CAH measurement of the steroids accumulating block, in serum or in urine use of mass spectrometry-based assays. Mutations of CYP21A2 : most common cause of CAH (90-95% of cases). * 21-Hydroxylase deficiency disrupt: glucocoicoid and mineralocoicoid synthesis resulting in diminished negative feedback the HPA axis. Major loss-of-function mutations: glucocoicoid and mineralocoicoid deficiency (classic CAH, neonatal presentation) less severe mutations: deficient glucocoicoid synthesis (simple virilizing CAH, neonatal or early childhood presentation) Mildest mutations: least severe clinical phenotype, nonclassic CAH (during adolescence and early adulthood) - preserved glucocoicoid production. TREATMENT Congenital Adrenal Hyperplasia Hydrocoisone: prevention of adrenal crisis (longer acting) prednisolone :to control androgen excess. For feility: dexamethasone +/- Biochemical monitoring of: androstenedione Testosterone Plasma renin Mineralocoicoid and salt replacement.
Hyperglycemia
Hypoglycemia
Hyponatremia
Hyperkalemia
Integrated QBank