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Congenital adrenal hyperplasia
Is a collection of genetic conditions that limit your adrenal glands' ability to make certain vital hormones. In most cases of congenital adrenal hyperplasia, the adrenal glands don’t produce enough cortisol. The production of two other kinds of hormones also may be affected, including mineralocorticoids (for example, aldosterone) and androgens (for example, testosterone).
Symptoms:
- Ambiguous genitalia in girls
- Poor weight gain
- Weight loss
- Dehydration
- Vomiting
- Signs and symptoms of classic congenital adrenal hyperplasia in children and adults include:
- Very early puberty
- Rapid growth during childhood, but shorter than average final height
- Irregular menstrual cycles in women
- Infertility in women and men
Preliminary plan:
- Endocrinologist appointment
- Pediatrician appointment
- Complete blood count
- Urinalysis
- Stool analysis - Protozoans and Helminths
- Blood test:
- Urea
- Creatinine
- Glucose
- Alkaline phosphatase (ALP)
- Alanine transaminase (ALT)
- Aspartate aminotransferase (AST))
- Bilirubin
- Cholesterol
- HDL Cholesterol
- LDL Cholesterol
- Triglycerides
- Potassium Sodium Chlorine (K, Na, Cl)
- Hormone test:
- Adrenocorticotropic hormone (ACTH)
- Testosterone
- Progesterone
- Dihydrotestosterone
- Cortisol in daily urine
- Scrotal ultrasound + Doppler imaging for boys
- Pelvic ultrasound for girls
- Adrenal glands ultrasound
Doctors
Obstetrician gynecologist, endocrinologist gynecologist
Pediatrician
Obstetrician gynecologist, endocrinologist gynecologist
Candidate of Medical Science
