Table of ContentsView AllTable of ContentsCausesTypesSymptomsWhen Is CAH Dangerous?DiagnosisTreatmentLiving With CAHOutlookPrenatal ScreeningPrevention
Table of ContentsView All
View All
Table of Contents
Causes
Types
Symptoms
When Is CAH Dangerous?
Diagnosis
Treatment
Living With CAH
Outlook
Prenatal Screening
Prevention
Congenital adrenal hyperplasia (CAH) is a group of hereditary disorders that disrupt healthyadrenal glandfunctions. Roughly 1 in 14,000–18,000 newborns show signs of classic CAH.This rare genetic disorder is typically present at birth (congenital). Thesalt-wastingform of congenital adrenal hyperplasia can be life-threatening if not treated immediately.
This article explains how CAH is inherited, the difference between classical and nonclassical congenital adrenal hyperplasia, the symptoms, when treatment is necessary, and where to find support.
Edwin Tan / Getty Images
A Note on TerminologyThe terms “male” and “female” are used in this article to describe chromosomal, biological, or anatomical characteristics, not to describe a person’sgender identityorgender expression.
A Note on Terminology
The terms “male” and “female” are used in this article to describe chromosomal, biological, or anatomical characteristics, not to describe a person’sgender identityorgender expression.
What Causes Congenital Adrenal Hyperplasia?
CAH affects the production of hormones including:
Without the building blocks needed to produce cortisol or aldosterone during healthy adrenal hormone synthesis, precursors in this adrenal biosynthetic pathway, such as 17-hydroxyprogesterone, build up. This results in the overproduction of androgens and subsequentvirilization.
Types of Congenital Adrenal Hyperplasia
There are two major types of congenital adrenal hyperplasia:classical CAH(more serious) andnonclassical CAH(milder).
Classical CAH
Classical, or classic, CAH is usually discovered at birth or during early infancy. There are two subtypes of classical CAH: thesalt-wasting typeand thesimple-virilizing type.
Salt-wasting CAH is very dangerous, typically requiring emergency medical attention immediately after birth.Simple-virilizing CAH can cause female infants to have large genitalia at birth, but male infants will not have these changes.
Nonclassical or Late-Onset CAH
Nonclassical, or non-classic, CAH is also known as late-onset CAH because it may not become evident until adolescence or early adulthood. In general, this is the mildest form of CAH but can still cause noticeable virilization (development of male sex characteristics) in females.
People can have varying degrees of non-classic CAH depending on the extent of their 21-hydroxylase deficiency and increased androgen production. In some cases, nonclassical CAH is so mild that there are no symptoms, and it doesn’t require any medical treatment.
Rare Forms
Other uncommon forms of CAH are:
Congenital Adrenal Hyperplasia Symptoms
The symptoms of congenital adrenal hyperplasia differ depending on type.
Non-salt-wasting “classic” CAH involveshaving excessive androgensand not enough cortisol but doesn’t cause severe life-threatening symptoms in newborns due to salt-wasting-induced sodium deficiencies.
Female newborns with simple-virilizing CAH will typically have ambiguous genitalia, and young children (male and female) show signs of virilization. There’s a strong correlation between the degree to which genetic mutations compromise the adrenal glands' hormone-producing enzymatic activity and the clinical severity of someone’s CAH symptoms.
Nonclassical CAH
Nonclassical CAH symptoms can appear in childhood, adolescence, or adulthood. In some people, the symptoms are so mild that they go through their entire life not knowing they have nonclassical CAH.
Symptoms of nonclassical CAH can include:
CAH is dangerous when it causes salt wasting. The salt-wasting form of CAH causes sodium levels in the blood to plummet. CSW can result in life-threatening complications such as anadrenal crisis, which requires immediate medical attention.
Dangerous symptoms associated with salt-wasting CAH include:
How Is CAH Diagnosed?
Blood and urine tests will also check electrolyte and sodium levels to determine whether someone is experiencing salt wasting. Genetic testing may also be used to look for mutations associated with CAH. Early detection is critical, especially when a newborn may have the salt-wasting form of CAH.
Treatment Options for CAH
Regular monitoring and follow-up care are necessary when treating CAH. It’s essential to work closely with a medical team that includes anendocrinologistwith specialized knowledge of CAH who can regularly adjust prescriptions and dosage amounts to appropriately match the ever-evolving medical needs that go along with living with CAH.
Medications
People with classic CAH can’t make adequate amounts of cortisol (aglucocorticoid) and require daily replacement hormone medications that contain glucocorticoids. The twofold goal of glucocorticoid steroid medication for classic CAH is to increase inadequate cortisol levels and reduce excessive androgen production.Depending on symptom severity, people with nonclassical CAH may or may not require medication.
Individuals with salt-wasting CAH who don’t make enough aldosterone (amineralocorticoid) require replacement hormone medications that contain mineralocorticoids, such asfludrocortisone, which increases sodium levels and offsets the risk of dangerously low blood pressure and adrenal crisis.
Glucocorticoid and mineralocorticoid replacement is the gold-standard treatment for CAH. Medication dosage requirements will fluctuate across someone’s lifespan and in times of distress. Some people require less medication as they get older. Boosting glucocorticoid doses may be necessary to compensate for the body’s increased cortisol demands during periods of high anxiety or when someone is injured or ill.
Surgery
For severely virilized female CAH patients, genital reconstruction surgery known as feminizing genioplasty can be performed during infancy. It’s important to find a surgeon who is a specialist and familiar with this procedure.
Living with CAH often requires managing the condition on a daily basis. The good news is that when someone with CAH treats their symptoms effectively with medication and/or surgery, it’s possible to lead a long and healthy life.
In addition to staying on top of medical treatments, emotional support is of paramount importance for many people living with CAH. Luckily, there are numerous support groups and counseling services designed specifically to help people cope with CAH.
What’s the Outlook for CAH?
Although this inherited genetic disorder can’t be cured, with appropriate treatment and a strong support network, people with CAH can flourish and thrive in all aspects of life.
If your family has a history of CAH, speaking with agenetic counselorcan be helpful when making thorny decisions about usinggenetic testingbefore or during pregnancy to screen for congenital adrenal hyperplasia.
In the United States, it’s mandated that all newborns are screened for CAH at the hospital soon after delivery using filter paper blood specimens to assay for 17-OHP.If a newborn has salt-wasting CAH, treatment for this life-threatening type should start immediately.
Advances in prenatal genetic testing and in vitro fertilization (IVF) make it possible to use preimplantation genetic testing, such as PGT-M, to screen for gene mutations that cause CAH, so only unaffected embryos are implanted.
However, these preventive measures are complex, costly, and may not be a viable or justifiable option for everyone
Summary
Congenital adrenal hyperplasia (CAH) is a genetic condition that affects the adrenal glands. People with CAH inherit genes from both parents that disrupt the ability of their adrenal glands to produce specific hormones. Medications can be taken to replace these missing hormones. Although CAH isn’t curable, it’s a treatable condition. With proper treatment and support, people with CAH can live long and healthy lives.
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