Congenital Adrenal Hyperplasia and Related Disorders MCQs

Enzymes deficiency causing Congenital adrenal hyperplasia are 21-Hydroxylase deficiency 11β-Hydroxylase deficiency 17-Hydroxylase/17, 20 lyase deficiency 3B-Hydroxysteroid dehydrogenase deficiency Lipoid adrenal Hyperplasia Reference: Ganong, 25th edition page no.366

The features and findings are highly suggestive of congenital adrenal hyperplasia presenting as salt wasting crisis 21 hydroxylase is the most common enzyme deficiency in CAH and salt wasting crisis. Absence of jaundice and hepatomegaly make the diagnosis of Galactosaemia unlikely. Acute tubular necrosis is ruled out, as urea and creatinine levels are normal. In congenital hypertrophic pyloric stenosis, hypokalemia is the presenting feature and constipation (not loose stools) is the chief complaint. Lactose intolerance would again present with diarrhea or vomiting, thus hypokalemia would be the characteristic finding. Reference : Harrison's Principles of Internal Medicine 21 st edition Page 2973

Vomiting, hepatosplenomegaly, adrenal insufficiency and adrenal calcification point to a diagnosis of Wolman Disease. Wolman Disease is an autosomal recessive lysosomal storage diseases that results from deficiency of lysosomal acid lipase (LAL) and accumulation of cholesterol esters and triglycerides in histiocytic foam cells of most visceral organs. The LAL gene is on chromosome 10 (10q24-q25). Clinical features become apparent in the 1st weeks of life and include failure to thrive, relentless vomiting, abdominal distention, steatorrhea, and hepatosplenomegaly. There usually is hyperlipidemia. Hepatic dysfunction and fibrosis may occur. Calcification of the adrenal glands occurs in about 50% of patients and is an important clue to the underlying diagnosis, when present. Death usually occurs within the 1st 6 months of life. Reference: Nelson 21 st Edition, Chapter 104

In CAH, an enzyme deficiency in the steroid hormone synthesis pathway can lead to a combined cortisol and aldosterone insufficiency. Aldosterone promotes water and sodium reabsorption in exchange for potassium by upregulating Na/K pump activity in the distal nephron . Its absence therefore results in a salt-losing crisis with hyponatraemia, hyperkalaemia (and associated metabolic acidosis), and hypotension. At the same time, the lack of cortisol causes Tags: Topic: CONGENITAL ADRENAL HYPERPLASIA Difficulty level: MUST KNOW PYQ: NEET PG 2022 Reference: Nelson textbook of Pediatrics, 21 st ed., pg. 2960

The child is having an adrenal crisis. This requires urgent treatment with intravenous saline, glucose and hydrocortisone. Long-term treatment is with glucocorticoid and mineralocorticoid replacement and oral sodium chloride may be needed during infancy. The dose of glucocorticoid needs to be increased at times of illness. The child is having a salt-losing crisis. Saline is needed along with glucose infusion. (option a) This child is seriously ill. IV is preferred over Oral due to sickness of child. (option c, d) TAGS: TOPIC: CONGENITAL ADRENAL HYPERPLASIA DIFFICULTY LEVEL: GOOD TO KNOW Reference: Nelson textbook of pediatrics, 21 st ed., pg. 2975

An infant with painless lower GI bleedhas 3 differentials- Meckle's diverticula Lymphonodular hyperplasia Intestinal duplication. Other causes of lower GI bleed in infants like volvulus, intussusception, colitis, anal fissure, infantile colitis presents with other associated complaints and they are painful. Tags: Topic: MISCELLANEOUS Difficulty level: MUST KNOW Reference: Nelson pediatric symptom-based diagnosis, pg no: 235