Adrenal gland

The adrenal glands are small, triangular-shaped glands located on top of each kidney. their small size,
these glands play a crucial role in the body's endocrine system, producing hormones that regulate
various physiological processes.

Adrenal Cortex: This outer layer of the adrenal glands produces several important hormones, including
cortisol, aldosterone, and sex hormones (such as testosterone and estrogen). Cortisol helps regulate
metabolism, immune response, and stress response. Aldosterone helps regulate blood pressure and
electrolyte balance.

Adrenal Medulla: This inner part of the adrenal glands produces hormones called catecholamines, such
as adrenaline (epinephrine) and noradrenaline (norepinephrine). These hormones are involved in the
body's fight-or-flight response, helping to increase heart rate, blood pressure, and energy levels in
response to stress or danger.

congenital adrenal hyperplasia etyology

ongenital adrenal hyperplasia (CAH) is a group of inherited disorders caused by mutations in genes
responsible for producing enzymes involved in the synthesis of cortisol, aldosterone, or both. CAH is
inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the
defective gene (one from each parent) The most common cause of CAH is a deficiency in an enzyme
called 21-hydroxylase, which is necessary for producing cortisol and aldosterone.

about 95% of cases of CAH, the underlying cause is a mutation in the CYP21A2 gene, which provides
instructions for making the 21-hydroxylase enzyme. Without enough of this enzyme, the body cannot
properly produce cortisol and aldosterone, leading to an overproduction of androgens (male hormones).
The excess androgens can cause a range of symptoms, depending on the severity of the enzyme
deficiency.

Less commonly, CAH can be caused by deficiencies in other enzymes involved in adrenal hormone
production, such as 11-beta-hydroxylase or 17-alpha-hydroxylase. Each type of CAH is associated with
its own specific set of symptoms and complications.

Pathology

21-Hydroxylase Deficiency: Caused by mutations in the CYP21A2 gene, leading to impaired conversion
of 17-hydroxyprogesterone (17-OHP) to cortisol and aldosterone precursors. This results in cortisol and
aldosterone deficiencies.

Decreased Cortisol Synthesis: Lack of cortisol leads to increased production of corticotropin-releasing

hormone (CRH) and adrenocorticotropic hormone (ACTH), causing adrenal hyperplasia and elevated
levels of cortisol precursors.
Excess Androgen Production: Accumulation of cortisol precursors diverts into androgen synthesis
pathways, causing excessive production of adrenal androgens like testosterone, leading to virilization.

Aldosterone Deficiency or Impairment: Severity of 21-hydroxylase deficiency determines aldosterone

synthesis impairment, leading to salt wasting in severe cases and electrolyte imbalances.

Salt-Wasting and Non-Salt-Wasting Forms: CAH presents in salt-wasting and non-salt-wasting forms, with
differing severity of aldosterone deficiency and electrolyte imbalances.

Clinical features

Rapid growth in childhood and early teens but shorter height than both parents.

Early signs of puberty.

Hirsutism

Androgenic alopecia

Acne

Short Stature

Irregular menstrual periods (females)

Fertility problems (in about 10% to 15% of women)

Excess facial or body hair in women.

Non-Salt-Wasting Form:

, individuals with the non-salt-wasting form may not present with obvious salt wasting in the neonatal
period.

However, they may still exhibit symptoms related to androgen excess, such as virilization in females or
early signs of puberty in males.Male-pattern baldness (hair loss near the temples)

Diagnosis

Clinical Evaluation: Based on signs like ambiguous genitalia, early puberty, or family history.

Biochemical Testing: Includes serum electrolytes and adrenal hormone levels, especially 17-
hydroxyprogesterone (17-OHP).

Confirmatory Testing: Cosyntropin stimulation test to measure adrenal function, with elevated 17-OHP
indicating CAH.

Genetic Analysis: Identifies specific enzyme deficiencies and mutations in associated genes like CYP21A2.
Imaging Studies: May be used to assess internal reproductive organs or adrenal gland morphology.

Prenatal Diagnosis: Offered in families with known mutations, using techniques like chorionic villus
sampling or amniocentesis.