COMBO 13 MYSTERIOUS DISEASE ULTRAGEN - DIAGNOSIS OF GENERAL DISEASE FERTISCAN TEST FSH PGTEST-M TEST FOR CONGENITAL ADRENAL HYPERPLASIA (CAH) Preeclampsia CD138 Antiphospholipid Genetic testing before pregnancy

TEST FOR CONGENITAL ADRENAL HYPERPLASIA (CAH)

WHAT IS CONGENITAL ADRENAL HYPERPLASIA ?

Congenital adrenal hyperplasia (CAH) is one of the hereditary endocrine diseases, which occurs due to dysfunction of adrenal hormone synthesis. Causes acute adrenal insufficiency and affects the development of the sex organs.

Epidemiology: The estimated incidence of CAH is 1:10,000 and the annual incidence ranges from 1:5000 to 1:20,000. The percentage of healthy people carrying the gene is 1/60.

CAUSES AND MECHANISM OF HERITATION

The disease is caused by mutations in the CYP21A2 gene located on the short arm of chromosome 6 and is inherited in a recessive manner.

CLASSIFICATION OF DISEASE AND SYMPTOMS OF DISEASE

According to the classification of the Vietnam Society of Endocrinology and Diabetes, congenital adrenal hyperplasia is divided into 2 main types:

Basic congenital adrenal hyperplasia

Non-basic congenital adrenal hyperplasia

Consists of two subgroups: salt deficiency and pure virilization.

- Salt deficiency: increased potassium in the blood, vomiting, dehydration, decreased blood pressure, slow weight gain, hypoglycemia.

- Pure virilization: masculinization in girls such as clitoris hypertrophy, early puberty in boys.

- Women will have manifestations such as: irregular menstruation or no period, always in a state of lack of vitality.

- Some other symptoms are common in both sexes such as: low bone density, severe acne, obesity, high cholesterol.

TREATMENTS

Lifelong use of adrenal hormone replacement therapy
Surgical intervention to orthopedic malformation of external genitalia when indicated to improve reproductive quality, quality of life

SUBJECTS USE

The patient is suspected of having congenital adrenal hyperplasia.
People who have a family member with congenital adrenal hyperplasia.
Couples who want pre-marital/pregnancy screening.

MEANING OF US TESTING

Support clinicians to have more information for a definitive diagnosis to have timely and reasonable treatment.
Genetic counseling helps couples carrying disease genes to choose suitable fertility solutions (PGT-M preimplantation embryo screening is the right support option)
Help reduce the economic burden on families and society; reduce cases of diseases with genetic factors that last through generations.