Congenital Adrenal Hyperplasia: Symptoms and Treatment

Congenital adrenal hyperplasia results from abnormal (increased or deficient) gene mutations within the adrenal glands. The abnormality reflects in the altered development of sex characteristics or an intersex condition. The different forms of congenital adrenal hyperplasia manifest as ambiguous genitalia, development of early pubic hair, precocious or delayed puberty, excessive facial hair, menstrual irregularity, infertility and hypertension. This condition is triggered by adversely affected biochemical reactions involved in the breaking down of cholesterol into cortisol. Cortisol is a glucocorticoid derived from cholesterol. This adrenal steroid hormone is very essential for normal endocrine function. Insufficient cortisol production induces overgrowth and over-activity within the adrenal cortex, while a deficiency triggers under-activity. Effective synthesis of cortisol triggers synthesis of aldosterone, androgens and estrogens. The abnormality is triggered by gene mutations.

Congenital Adrenal Hyperplasia (CAH): Symptoms

The condition is normally observed in people with two abnormal or defective gene alleles. It is characterized by excess mineralocorticoid or sex steroid deficiency. CAH makes the person's immune system incapable of producing vital corticosteriods and can only be treated via hormone replacement, either one or both with Cortef and Florinef. The condition demands for extra care to keep stress inducing situations at bay. The endocrinologist usually diagnoses the condition via:

• ADHD testing for behavior.
• Tests to rule out or identify asthma, allergies, diabetes, sleep apnea, anemia and bladder routine.
• Functional tests to detect deficient thyroid, adrenal and kidney functions.

The signs and symptoms that manifest in the case of congenital adrenal hyperplasia include:

• Genital masculineness.
• Enlarged clitoris.
• Fused labia.
• Enlarged adrenal glands.
• Intolerance to salt.
• Low vocal pitch.
• Severe acne.
• Amenorrhea.
• Tall children growing into short adults.

Treatment Options for Congenital Adrenal Hyperplasia:

It is very important for the patient and immediate family to research and get educated on the condition. Medical and social intervention play a very critical role in the treatment of congenital adrenal hyperplasia. The endocrinologist should at all times be the primary source for medical aid and the best resource for information. The treatment options available to address congenital adrenal hyperplasia include:

• Increased supply of glucocorticoid to reduce hyperplasia and production of mineralocorticoids.
• Replacement of mineralocorticoid, to address a salt deficiency.
• Replacement of testosterone or estrogen.
• Clinical treatments to optimize growth.
• Genital reconstructive surgery.

It is very important to look for the signs and symptoms of congenital adrenal hyperplasia and address them as early as possible. Many patients display general male physiognomy, but delicate lower extremities. It is important to determine habits and tendencies that define the individual's general character. Consistent vomiting and diarrhea episodes should not be overlooked or ignored. The onslaught of congenital adrenal hyperplasia can also be triggered by excessive sex steroid intake. If ignored, the person suffers greater exposure to the development of tumors and severe forms of congenital adrenal hyperplasia. It is very important to understand that prenatal gender should not be assigned without expert care and advice. There are a number of online and offline resources that now make exclusive information available on technical support, medication and DNA screening and testing, with regards to suspected congenital adrenal hyperplasia. Social intervention helps a lot. It involves networking extensively with others suffering the same adrenal insufficiency. Females who develop male characteristics and vice versa, should address the life-threatening adrenal crisis or Adrenogenital Syndrome as soon as possible, and develop a support system around themselves.