Congenital Adrenal Hyperplasia due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency(HSD3B2) gene analysis

Congenital Adrenal Hyperplasia due to 3-Beta-Hydroxysteroid Dehydrogenase Type 2 (HSD3B2) Gene Analysis

Congenital Adrenal Hyperplasia (CAH) due to HSD3B2 deficiency is a rare inherited disorder caused by mutations in the HSD3B2 gene. This condition affects the production of essential steroid hormones, including cortisol, aldosterone, and sex hormones, leading to adrenal insufficiency and abnormalities in sexual development.

Test Overview

The HSD3B2 Gene Analysis is a molecular genetic test that identifies disease-causing variants in the HSD3B2 gene to confirm the diagnosis of 3-beta-hydroxysteroid dehydrogenase type 2 deficiency.

When is this Test Recommended?

• Suspected Congenital Adrenal Hyperplasia (CAH)
• Salt-wasting crisis in newborns or infants
• Ambiguous genitalia at birth
• Delayed or abnormal puberty
• Adrenal insufficiency symptoms
• Family history of HSD3B2 deficiency or CAH
• Carrier screening for at-risk couples
• Prenatal or family genetic evaluation

Symptoms May Include

• Poor feeding and vomiting in newborns
• Dehydration and electrolyte imbalance
• Failure to thrive
• Low blood pressure
• Ambiguous genitalia
• Early virilization or delayed puberty
• Hormonal imbalance

Sample Required

• Peripheral Blood (EDTA)

Test Method

• DNA Sequencing (NGS/Sanger Sequencing with variant confirmation as required)

Benefits

• Confirms the genetic cause of CAH
• Enables accurate diagnosis and classification
• Supports early treatment and hormone replacement therapy
• Assists in genetic counseling and family planning
• Identifies carriers within affected families
• Helps guide prenatal risk assessment

Who Should Get Tested?

• Newborns with suspected adrenal disorders
• Children with unexplained adrenal insufficiency
• Individuals with ambiguous genitalia
• Patients with abnormal steroid hormone profiles
• Family members of affected individuals
• Couples planning pregnancy with a family history of CAH

Preparation

No special preparation is required. Genetic counseling is recommended before and after testing for appropriate interpretation of results.