Congenital Adrenal Hyperplasia (CAH) Symptoms
Female and Male CharacteristicsMedically reviewed by Kelly Wood, MDMedically reviewed by Kelly Wood, MDCongenital adrenal hyperplasia (CAH) includes a group of genetic (inherited) disorders that affect your adrenal glands. These two glands release hormones that help maintain normal body functions.Symptoms of CAH vary based on the type of CAH present. While there are many grades of CAH severity, they all involve excess androgens (male sex hormones like testosterone). Up to 95% of CAH cases involve a 21-hydroxylase deficiency, a key enzyme for normal hormone levels.Most CAH diseases can be classed into two main types: classic CAH and nonclassic (also called nonclassical) CAH. Classic CAH, which causes the most severe symptoms, is broken down into two subtypes: salt-wasting and simple virilizing.This article describes CAH symptoms by subtype and how signs can differ by age of onset. It also explains symptoms' short-term and long-term effects and how to manage them.
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CAH Symptoms and SubtypesCAH symptoms occur due to an imbalance of hormones produced by the adrenal glands, which include:Cortisol: Regulates blood sugar, blood pressure, energy levels, and your physical reaction to illness and stressAldosterone: A hormone that manages blood sodium and potassium levels to regulate blood pressureAndrogens: Male sex hormones, including testosterone, that contribute to female and male growth and sexual developmentThe type of symptoms that occur depends on the severity of 21-hydroxylase deficiency. Your age, sex, and which hormone levels are deficient or excess also impact symptoms.Symptoms of Classic CAHSymptoms of classic CAH can be apparent at birth or appear within a few days to weeks of birth. While symptoms can vary by subtype, the genitals of newborns with both forms of classic CAH can include:In females: Enlarged clitoris, ambiguous genitalia (outer genitals that do not appear as either male or female or have features of both sexes)In males: Typically normal genital appearance at birth, though the penis may be enlargedSalt-Wasting CAHSalt-wasting CAH is a severe form of classic CAH in which the adrenal glands produce insufficient aldosterone. This interferes with your body's ability to retain sodium (salt). As a result, too much salt is "wasted" or lost in the urine. Left untreated, the condition can be life-threatening.The following symptoms of salt-wasting CAH can appear at birth, within days or weeks of birth:Poor feedingVomitingDiarrheaDehydrationArrhythmia (abnormal heart rhythm)Low blood pressure (hypotension)Very low blood sodium levelsHypoglycemia (low blood sugar)Metabolic acidosis (excess acid in the blood)Weight loss or failure to gain weight at a normal rateIrritabilityShock (inadequate oxygen and blood supply to the brain and other organs)Additional symptoms of salt-wasting CAH can be triggered by early virilization, a condition that occurs in both boys and girls who develop certain qualities before the normal age of puberty. It can affect children as young as 2 or 3 years of age. Symptoms of early virilization include:Rapid growth, causing unusually taller height in childhood but shorter stature in adulthood because growth stops too soonPubic and armpit hairDeep voiceAcneIn females: Oligomenorrhea (irregular menstrual periods), failure to menstruate in females, difficulty getting pregnant, and hirsutism (excess facial hair and hair growth)In males: Early beard growth, benign testicular tumors, and infertilityAnyone with salt-wasting CAH can also develop symptoms of a life-threatening condition called an adrenal crisis. This can occur when there is not enough cortisol in your body.The following symptoms of an adrenal crisis require emergency medical treatment:VomitingAbdominal or flank painDehydrationHigh feverLoss of appetiteLow blood pressureLow blood sugarConfusionIrritabilityTachycardia (rapid heart rate)Rapid respiratory rateSlow, sluggish movementShockVasovagal syncope (loss of consciousness)ComaExcessive sweating on the face or palmsSimple Virilizing (Non-Salt-Wasting) CAH:Simple virilizing CAH involves too little cortisol and too much androgen due to a 21-hydroxylase deficiency. However, the deficiency is less severe than occurs in salt-wasting CAH. Therefore, newborns are not at risk for the severe or life-threatening sodium deficiency symptoms that occur with the more severe form of classic CAH.In addition to the genital abnormalities common in both forms of classic CAH, symptoms of simple virilizing CAH can include:Early virilization with rapid growth, early appearance of pubic and armpit hair, deep voice, and other masculine traitsSmall testicles in boysNonclassic CAHNonclassic CAH, which is more common than the classic form, is characterized by a mild 21-hydroxylase deficiency in almost all cases. Symptoms typically occur as a result of excess androgens, with an onset in childhood, adolescence, or early adulthood. Symptoms may be so mild in some people that they never know they have the condition.Symptoms of nonclassic CAH include the following:In both males and females:Early pubertyRapid growth during childhoodEarly halt in growth pattern, resulting in shorter stature than normal in adulthoodIn females:Normal female reproductive organs (ovaries, uterus, fallopian tubes, and vagina)Failure to menstruate or abnormal menstrual periodsEarly appearance of armpit or pubic hairSevere acneExcessive facial hair or hair growthSome enlargement of the clitorisFertility problemsIn males:Deepening voiceEarly appearance of armpit or pubic hairEnlarged penisNormal testes (testicles)Well-developed musclesFertility problems How Your Adrenal Glands Affect CAH SymptomsWith 21-hydroxylase deficiency, your adrenal glands can't produce enough cortisol and aldosterone. The low cortisol levels stimulate your adrenal gland to produce more androgens, which trigger the symptoms described as congenital adrenal hyperplasia.The type of symptoms that occur depends on the severity of your 21-hydroxylase deficiency and which hormones (androgens, cortisol, and aldosterone) are too high or too low.
Signs of CAH in NewbornsObvious external signs of CAH in newborns will vary based on type of CAH. Signs of CAH are only present in newborns with classic CAH. Abnormal genital characteristics typically do not exist in newborns with nonclassic CAH.Signs of classic CAH in newborns can include:In females:Ambiguous genitals or genitals outside the bodyEnlarged clitoris that resembles a small penisPartial or total closing of the labia (vaginal lips)In males:No consistent outward signs of CAHSlightly larger penis, occasionallySlightly darker (more brownish in color) scrotumSince classic CAH, which can cause life-threatening symptoms, can exist in males without obvious symptoms, all U.S. states perform universal newborn screening for CAH. The results are based on a sample of blood taken from your baby's heel performed within 24 to 48 hours of birth.Newborn screening measures blood serum levels of a substance called morning 17-hydroxyprogesterone (17O-HP). This substance accumulates when low levels of cortisol exist. A blood test with high levels of 17-OHP indicates the possibility of 21-hydroxylase deficiency, a cause of CAH.High levels of 17-OHP in a newborn screening are not conclusive for a diagnosis of CAH. If your baby's blood test results indicate abnormal levels of 17-OHP, second-tier diagnostic tests are usually advised based on the results and visible signs of CAH.A wide range of diagnostic tests are used to gather information on the following biomarkers of CAH. They include:Blood tests can measure the following: Levels of cortisol, aldosterone, and androgen hormones and their precursors such as 17-OHPLevels of renin, an enzyme that sends signals to the adrenal glands to produce more aldosteroneLevels of sodium, which may be lower in babies with CAHLevels of potassium, which are often higher in newborns with CAHACTH (adrenocorticotropic hormone) stimulation test (or corticotropin stimulation test), considered the gold standard, can determine whether a problem exists with the ability of your adrenal gland to produce cortisol, with a significant increase in 17-OHP and androgens after an injection of ACTH indicating CAH.Genetic tests can identify the presence or absence of a gene mutation that produces the enzyme 12-hydroxylase.Urine tests can measure the levels of sodium and potassium being eliminated. Newborns with CAH eliminate more sodium and less potassium than normal levels.
Learn More: What to Expect During Puberty in Girls
Signs of CAH Later in LifeCAH that occurs later in life typically involves non-classic CAH, in which the deficiency of the 21-hydroxylase enzyme is less severe. People affected with this condition usually appear normal at birth but begin to have mild effects of the condition in childhood or adolescence, though it can affect men and women of any age.Signs of CAH later in life can include:In childhood: Taller height due to accelerated growthIn adulthood: Shorter stature due to early cessation of growthIn females: Virilization (the appearance of male traits in a person assigned female at birth) that includes a deep voice, hirsutism, and well-developed muscles; early development of pubic and armpit hair; early or severe acne; and some enlargement of the clitorisIn males (characteristics may or may not be obvious): Early development of armpit and pubic hair, early or severe acne, enlarged penis with small testes, well-developed muscles, and early baldingWhen physical signs and individual symptoms indicate the possibility of CAH later in life, many of the same diagnostic tests used to identify CAH in infants are used to determine CAH biomarkers later in life. These tests include:Blood test to measure levels of cortisol, aldosterone, and androgen hormones and their precursors such as 17-OHP, and levels of renin, sodium, and potassiumACTH stimulation testGenetic testsUrine testBone age studies (X-rays of the growth plates, where new bone grows) in the wrists, hands, and pelvis, to assess whether a child has advanced skeletal development for their age.
Learn More: What Helps With Male Pattern Baldness?
Effects of CAH SymptomsCAH symptoms can range from mild to severe or life-threatening depending on the type and severity that exists.Short-Term EffectsIn Classic CAH, the short-term effects of untreated disease can cause serious symptoms that can include:Weight lossVomitingDehydrationDiarrheaShockHeart rhythm problemsLife-threatening conditions including coma or deathLong-Term EffectsLiving with CAH presents long-term health issues in both men and women. These effects may be due to the disease or the steroid treatments used to manage the disease. While the impact can vary by individual and research is ongoing, studies indicate that long-term effects of CAH can include:Shorter adult statureElevated risk of cardiovascular diseaseHigh body mass index (BMI)Increased risk of hypertension (high blood pressure)Decreased bone mineral densityIncreased risk of psychiatric diseases including depression, alcohol misuse, and suicideIncreased frequency of autoimmune disorders, especially autoimmune thyroid diseaseAdrenal tumorsIncreased risk of death due to adrenal crisisReduced fertilityImpaired cognition and brain structure How CAH Symptoms Differ From Normal PubertyNormal puberty typically occurs between the ages of 8 and 13 for girls and 9 and 14 for boys. However, males and females with CAH typically experience precocious puberty (sexual maturity at an abnormally early age).While early puberty involves the same physical changes as those that occur with regular puberty, males and females who undergo early puberty may also experience:Failure to reach their full height because their growth stops too soonPsychological and social problems such as anxiety over being different from their peers, and not being emotionally prepared for the physical changes of pubertyCAH also has parallels with other hormonal conditions, such as polycystic ovary syndrome (PCOS), that occur as a result of excessive androgen production. Nonclassic CAH and PCOS present with similar clinical characteristics that include:Chronic anovulation (failure of an egg to release from the ovary)Elevated androgen levelsNumerous small cysts in the ovariesCAH can be differentiated from PCOS with a test to assess 17-OHP levels, followed by ACTH stimulation testing to confirm CAH if 17-OHP levels are elevated.
How to Manage CAH SymptomsWith proper care, you can live a long and healthy life with any type of CAH. Disease management typically involves working with a team of healthcare providers that include specialists in endocrinology, nutrition, urological surgery, mental health, and genetics.Treatment for CAH involves securing proper hormone levels and enabling normal growth, sexual development, and sexual function. Depending on your symptoms, this may include surgery to correct genital or urinary problems.Ongoing treatment typically requires taking the following medications:In all types of CAH: Glucocorticoid (steroid) drugs are used to replace the cortisol your body can't produceIn salt-wasting classic CAH: Additional medications called mineralocorticoids to replace the absent aldosteroneIn infants: Sodium chloride (salt) supplementsIn females with symptomatic nonclassic CAH, treatment to counter the effects of high testosterone: Oral contraceptives (birth control pills), androgen blockers like Aldactone (spironolactone) or Androcur (cyproterone acetate), and Diane-35 (a combination of cyproterone acetate and estrogen)Managing symptoms requires maintaining a daily routine to ensure you stay on schedule with daily medications as directed and follow up with steady monitoring to avoid complications from overtreatment or undertreatment.Having CAH can involve many types of social and mental health challenges, including depression and anxiety. Prioritizing self-care and the emotional health of people from childhood to adulthood can help people stick with their daily treatment plan.CAH is a lifelong condition. Whether you are a patient or parent, mental health counseling can help you address the feelings that come with diagnosis, symptoms, body image, and treatment throughout your lifetime.Many people benefit from the support of working with other individuals and families affected by CAH. Talk to your healthcare provider about resources in your community. The following organizations offer online communities and social media related to CAH:CARES FoundationLiving with CAHWhat the CAH?!National Adrenal Diseases Foundation (NADF)
Learn More: Symptoms of High Androgens in Females and How to Treat It
SummaryCongenital adrenal hyperplasia (CAH) is a group of genetic conditions that hinders normal hormone levels in your adrenal glands. This causes an excess of testosterone and a lack of cortisol.The two main types of CAH are classic and nonclassic. The age of onset and kind of symptoms that occur vary based on the type of disease that exists.The most severe form involves classic CAH, which is present at birth. Without treatment, it can pose a grave medical risk. However, nonclassic CAH, the most common form, involves mild symptoms that are not life-threatening.With early diagnosis and proper treatment, people with all forms of CAH can live long and healthy lives. Read the original article on Verywell Health.
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