congenital adrenal hyperplasia

What is Congenital Adrenal Hyperplasia (CAH)?

Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that affect the adrenal glands, which are located on top of the kidneys and produce hormones essential for various bodily functions [1]. CAH is an inherited disorder, meaning it can be passed down from parents to their children [4].

Types of CAH

There are two main types of CAH: classic CAH and non-classic CAH. Classic CAH is further divided into several subtypes, each caused by a deficiency in one of the enzymes required for hormone production in the adrenal glands [5]. Non-classic CAH, on the other hand, is characterized by a partial deficiency of these enzymes.

Symptoms of CAH

The symptoms of CAH can vary depending on the type and severity of the condition. Some common symptoms include:

• Abnormal menstrual periods or failure to menstruate
• Early appearance of pubic or armpit hair
• Severe acne
• Excessive hair growth or facial hair [6][7]

Adrenal Glands and Hormone Production

The adrenal glands produce hormones that regulate various bodily functions, such as metabolism, blood pressure, and electrolyte balance. In CAH, the adrenal glands do not function properly, leading to an imbalance of these hormones.

References: [1] Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that affect the adrenal glands. [4] Congenital adrenal hyperplasia is an inherited disorder of the adrenal glands that can affect both boys and girls. [5] Congenital adrenal hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders characterized by a deficiency of one of the enzymes required for hormone production in the adrenal glands. [6] Symptoms · Abnormal menstrual periods or failure to menstruate · Early appearance of pubic or armpit hair · Severe acne · Excessive hair growth or facial hair [7] Symptoms · Abnormal menstrual periods or failure to menstruate · Early appearance of pubic or armpit hair · Severe acne · Excessive hair growth or facial hair

Symptoms of Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that affect the adrenal glands, leading to an imbalance in hormones. The symptoms of CAH vary depending on which gene is affected and the level of enzyme deficiency.

Common Symptoms:

• Early Puberty: Girls with CAH may develop pubic and underarm hair, body odor from sweating, and moderate acne before age 8.
• Male Characteristics in Females: Female infants with classic CAH might be born with an enlarged clitoris or external genitalia that resemble male genitals.
• Deepening Voice: Boys with CAH may experience a deepening voice due to the increased levels of androgens.
• Severe Acne: Both boys and girls with CAH may develop severe acne as a result of hormonal imbalances.
• Early Appearance of Pubic or Armpit Hair: Children with CAH may exhibit early development of pubic or armpit hair, which is not typical for their age group.

Classic CAH Symptoms:

• Loss of Body Fluid (Dehydration): Severe dehydration can occur due to the inability to produce sufficient aldosterone.
• Low Levels of Blood Sodium (Hyponatremia) and Potassium: Electrolyte imbalances can lead to low blood pressure, shock, and even death if left untreated.
• An Adrenal Crisis: Children with classical CAH may develop an adrenal crisis, which produces symptoms including vomiting, diarrhea, and severe dehydration.

Less Severe Form (Simple Virilizing CAH):

• Genital Findings: In females, the genitals might look more like male genitals. In males, the genitals may look darker than expected.
• Infertility or Decreased Fertility: Individuals with simple virilizing CAH may experience infertility or decreased fertility due to hormonal imbalances.

References:

• [1] Classic CAH symptoms can be grouped into two types according to their severity: salt wasting and simple virilizing (also called non-salt wasting). Symptoms of classic CAH due to 11-hydroxylase deficiency are similar to those of simple virilizing CAH.
• [2-5, 7, 9, 10, 12-15] The symptoms listed above are a compilation of information from various sources within the provided context.

Diagnostic Tests for Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect the adrenal glands, leading to an imbalance in hormones. To diagnose CAH, various tests can be performed.

• Physical Exam: A physical exam usually includes a check of blood pressure and heart rate, as well as reviewing symptoms. If a healthcare professional suspects CAH, further testing is done.
• Blood and Urine Tests: Blood and urine tests are used to confirm the diagnosis of CAH. These tests measure the levels of certain hormones in the body.

Specific Diagnostic Tests

• ACTH Stimulation Test: This test is used to diagnose congenital adrenal hyperplasia and determine the type of CAH. Blood samples are taken before and after giving an injection of synthetic ACTH, which signals the adrenal glands to release cortisol.
• Measurement of 17-Hydroxyprogesterone (17-OHP): Elevated levels of 17-OHP in the blood or urine can indicate classical 21-hydroxylase deficiency, a type of CAH.

Other Diagnostic Tests

• Newborn Screening Test: This test is used to screen newborns for congenital adrenal hyperplasia. If the test is positive, further evaluation is needed to confirm the diagnosis.
• Laboratory Testing: Laboratory testing, including serum hormone and electrolyte measurements, with or without molecular genetic testing, is key to the diagnosis and monitoring of CAH.

References

1. Tests to find CAH in children and adults include: Physical exam [1].
2. An ACTH stimulation test is used to diagnose congenital adrenal hyperplasia and determine the type your child has [2].
3. Measurement of 17-Hydroxyprogesterone (17-OHP) can indicate classical 21-hydroxylase deficiency [5].
4. Laboratory testing, including serum hormone and electrolyte measurements, with or without molecular genetic testing, is key to the diagnosis and monitoring [7].

Treatment Options for Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that affect the production of hormones by the adrenal glands. The primary goal of treatment is to replace the deficient hormones and prevent symptoms.

• Steroid Replacement Therapy: This is the mainstay of treatment for CAH, involving the use of corticosteroids such as hydrocortisone (Cortef) and prednisone to replace deficient cortisol. Fludrocortisone (Florinef) is also used to replace missing aldosterone and help with salt-wasting CAH [8].
• Glucocorticoid Regimens: Studies have shown that glucocorticoid regimens, such as hydrocortisone, are effective in treating CAH. A systematic review and meta-analysis found that these regimens can improve symptoms and quality of life for patients with CAH [13].
• Adrenal-Targeted Therapies: Newer therapies, such as Abiraterone acetate, have been developed to target the adrenal glands directly. These treatments have shown promise in reducing adrenal androgen biomarkers in poorly controlled patients [13].

Key Considerations

When treating CAH, it's essential to consider the age of the patient and tailor treatment accordingly. For example, growing individuals with classic CAH should receive maintenance therapy with hydrocortisone and avoid chronic use of more potent or long-acting glucocorticoids, which can have adverse side effects [11].

Multidisciplinary Approach

Treatment for CAH often involves a multidisciplinary team, including pharmacists who review medications and monitor drug-drug interactions, specialty care nurses who provide teaching to patients and parents, and mental health professionals who address the emotional impact of the condition on patients and their families [12].

References

• Mallappa, A., & Merke, D. P. (2022). Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society clinical practice guideline. Journal of Clinical Endocrinology & Metabolism, 95(9), 4133–4160.
• Whittle E, Falhammar H. Glucocorticoid regimens in the treatment of congenital adrenal hyperplasia: a systematic review and meta-analysis. Journal of the Endocrine Society...

Differential Diagnoses for Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (CAH) is a group of inherited disorders that affect the adrenal glands, leading to an overproduction or underproduction of certain hormones. When diagnosing CAH, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for CAH:

• Androgen Insensitivity Syndrome: This condition is characterized by a resistance to androgens (male hormones), which can lead to symptoms similar to those of CAH, such as ambiguous genitalia in males [1].
• Polycystic Ovary Syndrome (PCOS): PCOS is a hormonal disorder that affects women, causing symptoms like irregular menstrual cycles, excess hair growth, and cysts on the ovaries. Non-classic CAH can be a differential diagnosis for PCOS, as both conditions involve hormonal imbalances [7].
• Addison's Disease: This rare disorder is characterized by inadequate production of cortisol and aldosterone hormones, leading to symptoms like weight loss, fatigue, and hypotension. Addison's disease can be a differential diagnosis for classic CAH, which also involves adrenal insufficiency [5].
• Adrenal Hypoplasia: This condition is characterized by underdevelopment of the adrenal glands, leading to hormonal imbalances similar to those seen in CAH.
• 5-Alpha-Reductase Deficiency: This rare genetic disorder affects the production of dihydrotestosterone (DHT), a hormone essential for male development. Symptoms can include ambiguous genitalia and infertility [1].
• 3-Beta-Hydroxysteroid Dehydrogenase Deficiency: This is another rare genetic disorder that affects the production of certain hormones, leading to symptoms similar to those seen in CAH.

Key Diagnostic Factors

When diagnosing CAH, it's essential to consider the following key diagnostic factors:

• Genetic predisposition
• Weight loss
• Failure to thrive
• Vomiting
• Hypotension
• Atypical genitalia
• Hyperpigmentation [8]

These differential diagnoses and diagnostic factors can help healthcare professionals accurately diagnose and treat CAH, ensuring that patients receive the best possible care.

References:

[1] May 10, 2024 — Differential Diagnoses. 3-Beta-Hydroxysteroid Dehydrogenase Deficiency · 5-Alpha-Reductase Deficiency · Adrenal Hypoplasia. [7] by T Uslar · 2023 · Cited by 18 — Non-classic CAH, a milder form of CAH, is usually manifested later in life and is a common differential diagnosis of Polycystic Ovary Syndrome ... [5] Jun 8, 2023 — Comparisons may be useful for a differential diagnosis: Addison disease is a rare disorder characterized by inadequate production of ... [8] Aug 24, 2021 — Key diagnostic factors · genetic predisposition · weight loss · failure to thrive · vomiting · hypotension · atypical genitalia · hyperpigmentation.