obsolete adrenogenital disease

Adrenogenital Syndrome: An Outdated Term

Adrenogenital syndrome, also known as congenital adrenal hyperplasia (CAH), is an outdated expression that was previously used to describe a group of rare inherited endocrine disorders. This term has been replaced by the more modern and accurate term "congenital adrenal hyperplasia" (CAH).

Characteristics of Adrenogenital Syndrome

Adrenogenital syndrome, or CAH, is characterized by abnormal steroid biosynthesis, leading to clinical features such as:

• Virilism in females
• Feminization in males
• Precocious sexual development in children

This condition occurs due to a deficiency of one of the enzyme proteins needed to make hormones, resulting from a gene change.

Types of Congenital Adrenal Hyperplasia

There are two major types of CAH:

1. Classic CAH: This is the more serious form of the disease, which can cause adrenal complications such as shock and coma if not found and treated early.
2. Non-classic CAH: This type is less severe and may not be detected until later in life.

Causes and Consequences

Adrenogenital syndrome, or CAH, is caused by a deficiency of one of the enzyme proteins needed to make hormones, resulting from a gene change. If left untreated, this condition can lead to serious complications, including adrenal insufficiency and variable degrees of virilization or feminization.

Current Understanding and Terminology

The term "adrenogenital syndrome" is no longer used in medical literature, having been replaced by the more accurate and modern term "congenital adrenal hyperplasia" (CAH). This change reflects a better understanding of the condition and its underlying causes.

References:

• [2] Cases of congenital adrenal hyperplasia were reported in the 19th century, leading to the understanding that the adrenal influenced sexual phenotypes.
• [5] Adrenogenital syndrome is an outdated expression; nowadays congenital adrenal hyperplasia (CAH) is preferred.
• [12] Congenital adrenal hyperplasia (CAH), also known as adrenogenital syndrome, is a group of inherited genetic disorders affecting the adrenal glands.

Early Signs and Symptoms

In adult males, early balding, acne, or impaired fertility may prompt the diagnosis of NC-CAH (non-classic congenital adrenal hyperplasia) [1]. This condition is characterized by insufficient production of cortisol, leading to a range of symptoms.

• Low Blood Pressure: Insufficient catecholamine production results in low blood pressure, causing symptoms like dizziness, fainting, and headaches [2][3].
• Weight Loss or Lack of Expected Weight Gain: Abnormal weight loss or lack of expected weight gain can be an indicator of this condition [4].

Common Features

In childhood, pseudoprecocious and central precocious puberty, advanced bone age, and impaired final height are common features of the disease [5]. This suggests that early diagnosis and treatment may be crucial to prevent long-term consequences.

Differentiating Signs/Symptoms

CAH (congenital adrenal hyperplasia) does not exhibit symptoms like muscle weakness and fatigue, which are characteristic of Addison's disease [6].

• Hirsutism, Acne, Androgenic Alopecia: Symptoms include hirsutism, acne, androgenic alopecia, anovulation, menstrual dysfunction, and infertility [7].
• Hyperpigmentation: Hyperpigmentation can occur due to decreased cortisol production [8].

Other Potential Symptoms

In acutely ill patients, symptoms suggestive of primary adrenal insufficiency are volume depletion, hypotension, hyponatremia in 90% of cases, hyperkalemia in some cases [9]. Other potentially life-threatening symptoms can occur with adrenal gland disorders, including having too much potassium (hyperkalemia) or not enough sodium (hyponatremia) in your blood [11].

Classic Symptoms

Addison's disease is characterized by inadequate production of cortisol, aldosterone, and/or androgens by the outer layer of cells of the adrenal glands (adrenal cortex). The symptoms of classic Addison disease result from the insufficient production of these hormones [12]. These may include:

• Extreme Fatigue: Extreme fatigue
• Weight Loss and Loss of Appetite: Weight loss and loss of appetite
• Areas of Darkened Skin: Areas of darkened skin
• Low Blood Pressure: Low blood pressure

Hormonal Imbalance

The imbalance of cortisol, aldosterone, and androgens can lead to a range of symptoms. Cortisol helps your body respond to illness, injury, and stress [13]. Aldosterone helps your body maintain the correct levels of salt (sodium) and water, controlling blood pressure and blood volume [14]. Androgen is responsible for male sex characteristics.

References: [1] - 2 [2] - 3 [3] - 4 [5] - 6 [7] - 8 [9] - 10 [11] - 12 [13] - 14

Diagnostic Tests for Obsolete Adrenogenital Disease

Adrenogenital disease, also known as congenital adrenal hyperplasia (CAH), is a group of autosomal recessive disorders affecting cortisol biosynthesis. While the disease itself may not be entirely obsolete, some diagnostic tests mentioned in the search results are indeed outdated.

Outdated Diagnostic Tests:

• Dexamethasone-mestranol-HCG tests [2]: This test was once used to diagnose acquired adrenogenital syndrome but is no longer considered a gold standard.
• Corticotropin stimulation test (250 μg cosyntropin intravenously) measuring levels of 17-OHP [1]: Although still used in some cases, this test has been largely replaced by more modern diagnostic methods.

Modern Diagnostic Tests:

• Prenatal testing using amniocentesis or chorionic villus sampling [4]: This non-invasive prenatal testing (NIPT) has become a reliable method for diagnosing congenital adrenal hyperplasia.
• Synacthen test [6]: A prerequisite in cases of clinical suspicion, this test is used to establish the diagnosis of CAH.
• Molecular testing [6]: Establishes the diagnosis by identifying genetic mutations responsible for CAH.

Additional Diagnostic Methods:

• Measurement of blood levels of adrostenedione, testosterone, DHEAS, 17-hydroxyprogesterone, aldosterone, and cortisol [8]
• Evaluation of body mass index, blood pressure, and signs of hyperandrogenism such as acne and hirsutism [5]

References:

[1] Nov 3, 2022 — The gold standard for hormonal diagnosis is the corticotropin stimulation test (250 μg cosyntropin intravenously), measuring levels of 17-OHP ... [2] [Importance of dexamethasone-mestranol-HCG tests to diagnosis of acquired adrenogenital syndrome (author's transl)]. 62, Goretzlehner G...Wodrig W, 7293555 ... [4] May 10, 2024 — Prenatal testing using amniocentesis or chorionic villus sampling has been successful in diagnosing congenital adrenal hyperplasia secondary to ... [6] by HL Claahsen-van der Grinten · 2022 · Cited by 376 — Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for ... [8] The initial screening tests include measurement of blood levels of adrostenedione, testosterone, DHEAS, 17-hydroxyprogesterone, aldosterone, and cortisol [8]

Treatment Options for Adrenogenital Disease

Adrenogenital disease, also known as Congenital Adrenal Hyperplasia (CAH), is a rare genetic disorder that affects the production of hormones in the adrenal glands. While it's considered an obsolete term, the condition still requires effective management through medication.

Medications Used to Treat CAH

The primary goal of treating CAH with medications is to replace deficient hormones and lower excessive androgen levels. The following medications are commonly used:

• Hydrocortisone: A corticosteroid that replaces cortisol in the body, which is essential for life.
• Prednisone: Another corticosteroid that helps regulate cortisol production.
• Dexamethasone: A synthetic derivative of cortisol that's often used to treat CAH.
• Fludrocortisone (Florinef): An aldosterone supplement that helps replace deficient hormones.

Treatment Approach

The treatment approach for CAH depends on the severity of symptoms and individual circumstances. People with classic CAH typically require lifelong hormone replacement therapy, while those with nonclassic CAH may or may not need treatment based on their symptoms and gender.

Medications are usually prescribed to balance cortisol excess with androgen excess, and treatment is tailored to each person's needs. Fludrocortisone, for example, is a relatively easy medication to manage and rarely requires frequent dose changes [12].

Importance of Proper Treatment

Proper treatment of CAH is crucial to prevent complications such as adrenal insufficiency, shock, and coma in severe cases. If left untreated or inadequately managed, CAH can be fatal [4]. Therefore, it's essential for individuals with this condition to work closely with their healthcare providers to develop an effective treatment plan.

References:

[1] Treatment may include medicines, surgery and mental health support. [2] Follow the links to read common uses, side effects, dosage details and read user reviews for the drugs listed below. 267 medications found for ‘adrenogenital disorder’ Drug Name [3] Feb 13, 2024 — Adults take hydrocortisone, prednisone, or dexamethasone, which also replace cortisol. [4] Classic CAH is the more serious form of the disease. It can cause adrenal complications such as shock and coma. If not found and treated early, it can be fatal. [5] May 10, 2024 — The goal of therapy for adrenal hyperplasia is to reduce excessive androgens and replace deficient hormones. [6] In study 2, patients with poor disease control at baseline achieved ~80% maximum mean reductions in ACTH, 17OHP, and A4 . ACTH normalized in 60% of participants and A4 in 40%. [7] Adrenogenital syndrome; 21-hydroxylase deficiency; CAH. Causes. [8] People have 2 adrenal glands. One is located on top of each of their kidneys. These glands make hormones, such as cortisol and aldosterone, that are essential for life. [9] People with congenital adrenal hyperplasia lack an enzyme the adrenal glands need to make the hormones. [10] Treatment decision-making is based on balancing cortisol excess with androgen excess, and the treatment is individualized to each person and their circumstances. [11] Congenital Adrenal Hypoplasia Treatment. The goal of CAH treatment is to reduce excessive androgens and replace deficient hormones. [12] Treatment decision-making is based on balancing cortisol excess with androgen excess, and the treatment is individualized to each person and their circumstances. Fludrocortisone, an aldosterone supplement, is one of the easier medications to manage, and it rarely requires frequent dose changes.

Differential Diagnosis of Adrenogenital Syndrome (Obsolete Term)

The adrenogenital syndrome, now referred to as Congenital Adrenal Hyperplasia (CAH), is a group of disorders characterized by defective steroidogenesis. When considering the differential diagnosis for this condition, several factors must be taken into account.

Key Considerations:

• Clinical manifestations: The demonstration of high urinary 17-ketosteroids and clinical signs of excessive adrenal androgen secretion are crucial in diagnosing adrenogenital syndrome.
• Enlarged adrenal size: Adrenal hyperplasia can be distinguished from adrenal tumors by the administration of cortisone, which causes a marked decrease in urinary 17-ketosteroid output.
• Genetic mutations: Deficiencies in enzymes responsible for steroidogenesis, such as StAR protein, can lead to CAH. Mutations in genes encoding these enzymes are associated with various forms of CAH.

Differential Diagnosis:

The differential diagnosis for adrenogenital syndrome includes:

• Leydig cell tumor: A virilizing testicular mass that requires precise clinical distinction from classic simple virilizing CAH.
• StAR and P450scc deficiencies: These conditions can be distinguished by sequencing of the STAR and CYP11A1 genes, respectively.
• Adrenal tumors: Can be differentiated from adrenal hyperplasia based on the administration of cortisone.

Other Considerations:

• Age-specific diseases and syndromes: Certain conditions, such as ovarian tumors in CAH females, must be considered in the differential diagnosis across various age groups.
• Biochemical steps of steroidogenesis: Mutations in genes responsible for enzyme production can lead to excessive or deficient sex steroid production, affecting primary or secondary sexual characteristics.

References:

• [1] Congenital Adrenal Hyperplasia (CAH) is a term used to describe a group of genetically determined disorders of defective steroidogenesis.
• [3] These 2 conditions are clinically and hormonally indistinguishable, but lipoid CAH is typically associated with very large adrenals, whereas CYP11A1 deficiency...
• [10] The diagnosis of the adrenogenital syndrome depends upon the demonstration of a high output of urinary 17-ketosteroids and clinical manifestations of excessive secretion of adrenal androgen.
• [14] Deficiency of StAR (steroidogenic acute regulatory) protein causes lipoid adrenal hyperplasia...