Congenital adrenal hyperplasia is a family of inherited disorders that result from the inability of the adrenal glands to sufficiently synthesize hormones known as corticosteroids. The various types of congenital adrenal hyperplasia are caused by enzyme deficiencies in different stages of hormone production.
A group of disorders caused by a deficiency of the enzyme that is essential to the production, by the adrenal cortex (the outer layer of the adrenal glands), of steroid hormones called corticosteroids. The enzyme deficiency in a fetus is the result of inheriting two defective genes, one from the father and one from the mother.
A group of rare, autosomal recessive disorders characterized by deficiencies of one or more enzymes essential for the synthesis of hormones made from cholesterol (cortisol, aldosterone, progesterone, and/or dihydrotestosterone). These enzyme deficiencies produce a variety of clinical syndromes resulting from the excessive concentration of precursor hormones. The most common of these is 21-hydroxylase deficiency.
Polycystic ovary syndrome (PCOS) is a hormonal anomaly prevalent in women of childbearing years, characterized by enlarged ovaries with a profusion of diminutive cysts encircling their periphery.
A uncommon genetic condition, which manifests from birth, involves a defect in an enzyme a protein that facilitates chemical reactions and hinders the synthesis of corticosteroid hormones (hydrocortisone and aldosterone) within the adrenal glands.
The blockade of the enzyme leads to the overproduction of androgens, which are male sex hormones. This excessive androgen production can result in abnormal genital development in a fetus affected by the condition. In females, these androgens cause the clitoris to enlarge and some fusion of the outer labia, leading to genital ambiguity. In some affected males, there may be an enlargement of the penis, which can be present at birth or develop later.
The enzyme defect also leads to additional effects, including hypotension (low blood pressure), hypoglycemia (low blood sugar levels), weight loss, and dehydration. Hyperplasia, which refers to the enlargement of the adrenal gland, occurs due to the excessive secretion of the hormone ACTH. This hormone imbalance arises from the inadequate production of hydrocortisone. Furthermore, excessive pigmentation of the skin may manifest in skin creases and around the nipples.
In severe instances, congenital adrenal hyperplasia becomes evident shortly after birth. However, in milder cases, symptoms may appear later, potentially leading to premature puberty in boys and delayed menstruation, hirsutism (excessive hairiness), and possible infertility in girls.
To establish a diagnosis, healthcare professionals measure corticosteroid hormones in both blood and urine samples. Additionally, ultrasound scanning may be conducted to ensure the absence of adrenal gland tumors.
The primary approach to treating congenital adrenal hyperplasia involves hormone replacement therapy. When initiated early, this treatment typically promotes normal sexual development and fertility.