From the Guidelines
The main symptoms of congenital adrenal hyperplasia (CAH) include ambiguous genitalia in newborn girls, early or inappropriate puberty in both sexes, rapid growth in childhood followed by short adult stature, and skin problems such as acne and excessive body hair. In severe cases, infants may experience salt-wasting crises, characterized by dehydration, vomiting, and shock 1. Males may have enlarged genitalia at birth, while females often have irregular menstrual cycles and fertility issues 1. Both sexes can experience fatigue, low blood pressure, and hypoglycemia due to cortisol deficiency 1. These symptoms result from enzyme deficiencies that disrupt adrenal hormone production, leading to decreased cortisol and aldosterone, and increased androgens. The severity and onset of symptoms vary depending on the type of CAH and the specific enzyme affected, with classic CAH typically presenting in infancy and non-classic CAH often diagnosed later in childhood or adulthood 1. Some patients with CAH may also exhibit behavioral masculinization, such as a tomboyish personality and interest in male-dominated activities, due to the effects of androgens on the developing brain 1. It is essential to recognize the signs and symptoms of CAH to provide timely and appropriate treatment, which can significantly improve the quality of life and reduce morbidity and mortality associated with this condition. Key symptoms to look out for include:
- Ambiguous genitalia in newborn girls
- Early or inappropriate puberty
- Rapid growth in childhood followed by short adult stature
- Skin problems such as acne and excessive body hair
- Salt-wasting crises in severe cases
- Enlarged genitalia in males
- Irregular menstrual cycles and fertility issues in females
- Fatigue, low blood pressure, and hypoglycemia due to cortisol deficiency.
From the Research
Symptoms of Congenital Adrenal Hyperplasia (CAH)
The symptoms of CAH can vary from mild to severe depending on the degree of enzymatic defect 2. The classical form of CAH is characterized by:
- Virilization of the genitalia in females 2, 3
- Salt wasting crises in neonates 3
- Ambiguous genitalia at birth 4
- Accelerated somatic growth, increased bone age, and premature pubic hair in children 3
Late-Onset Symptoms of CAH
In the less severe, late-onset form of CAH, symptoms may include:
- Premature development of pubic hair 2
- Advanced bone age 2
- Accelerated linear growth velocity and diminished final height in both males and females 2
- Severe cystic acne 2
- Hirsutism, temporal baldness, and infertility in women 2
- Early beard growth, acne, and growth spurt in men 2
- Oligozoospermia or diminished fertility in men 2
Symptoms in Adolescent and Adult Females with CAH
Adolescent and adult females with CAH may experience:
- Menstrual irregularities and reduced fertility 5
- Symptoms of hyperandrogenism, such as hirsutism and acne 5
- Decreased bone mineral density, obesity, diabetes, and hypertension as long-term complications 5
- Challenges related to sexuality, atypical genitalia, and/or complications from previous surgical treatment 5