Q) What is CAH ?
A) CAH means Congenital Adrenal Hyperplasia and is the second most common genetic condition detected by newborn screening. In India, CAH accounts for about 38% of cases of ambiguous genitalia.
Q) What causes CAH ?
A) CAH results from a genetic defect in the
enzymes involved in the synthesis of adrenal hormones. These defects result in deficiency of cortisol, aldosterone, and elevated androgens.
Q) What are the signs and symptoms of CAH?
A) The most common presentation is high or low blood pressure and abnormalities of Sodium and Potassium. Children may have loose stools, vomitting, low-birth weight, frequently passing urine, poor weight gain and development.
Q) What age do the symptoms appear ?
A) The most severe forms can appear as early as 2 weeks after birth in an absolutely fine baby previous. They can start with vomiting and loose stools and becoming very sick very fast.
Q) Do girls present differently?
A) Yes, newborn girls can additionally have some physical changes which can be diagnosed right after birth – (may have a male looking appearance)
Enlarged clitoris.
Dark pigmentation
Abnormalities of labia majora.
Q) How is CAH diagnosed?
A) CAH can be diagnosed by Newborn screening done right after birth for 17, OHP.
In symptomatic babies – 17,OHP, and related blood tests are done to make a diagnosis.
Synacthen stimulation may be needed for confirmation in some cases.
Genetic testing is done in confirmed cases to identify the specific enzyme defect causing the problem.
Q) How is CAH treated ?
A) Once a diagnosis of CAH is made, these children are put on hormone replacement therapy which would continue lifelong. These are oral medications the dose of which will be decided by your Pediatric Endocrinologist.
Q) Can these children lead a normal life ?
A) Yes, once treatment is initiated these children lead normal lives. They should be monitored by your Pediatric Endocrinologist who would do regular blood tests and monitor their growth and development.
