Congenital Adrenal Hyperplasia
Our congenital adrenal hyperplasia specialists in New York are here for you. Our team of endocrine doctors near you are dedicated to supporting your success and ensuring that you regain your metabolic health and overall wellness.
What Is Congenital Adrenal Hyperplasia?
Congenital adrenal hyperplasia (CAH) refers to a group of inherited disorders affecting the adrenal glands, which are responsible for producing vital hormones such as cortisol and aldosterone. This condition is typically caused by genetic mutations that disrupt the production of enzymes crucial for hormone synthesis in the adrenal cortex. The most common form, accounting for about 95% of cases, is 21-hydroxylase deficiency. Non-classic congenital adrenal hyperplasia (NCCAH) is a late-onset and milder form of congenital adrenal hyperplasia (CAH) and is more prevalent in Ashkenazi Jewish and white populations.
Non-classic congenital adrenal hyperplasia (NCCAH) is a milder form of CAH that typically manifests later in life, often during late childhood, adolescence, or adulthood. Unlike the classic forms, individuals with NCCAH typically have normal external genitalia at birth. Symptoms can include precocious puberty, acne, and infertility. Females may also experience irregular menstrual cycles and hirsutism (excessive hair growth).
What Are the Causes of Congenital adrenal Hyperplasia?
CAH is caused by autosomal recessive defects in enzymes that are critical for cortisol production. The most common subtype, 21β-hydroxylase deficiency, accounts for approximately 95% of CAH cases, followed by 11β-hydroxylase deficiency, which constitutes about 5% of cases. In these conditions, reduced cortisol levels lead to increased secretion of adrenocorticotropic hormone (ACTH). Elevated ACTH levels, in turn, stimulate increased synthesis of adrenal precursor steroids, including androgens, which can lead to the clinical manifestations associated with CAH.
What Are the Treatments and Therapies for Congenital adrenal Hyperplasia?
Treatment for congenital adrenal hyperplasia (CAH) focuses on replacing deficient hormones and reducing excess androgen production. Glucocorticoid replacement therapy, such as hydrocortisone in children and prednisolone or dexamethasone in adults, is lifelong. Specific treatments vary by subtype. Regular follow-up with an endocrinologist is crucial to monitor hormone levels and adjust treatment, with additional considerations for intersex or gender dysphoric patients.
How Can Well by Messer Help You with Congenital Adrenal Hyperplasia?
At Well By Messer, our congenital adrenal hyperplasia doctors are dedicated to helping patients diagnose and effectively manage their condition. We provide comprehensive diagnostic services, including hormone testing and genetic analysis, to accurately identify the specific form of CAH. Once diagnosed, our experienced endocrinologists develop personalized treatment plans tailored to each patient's individual needs. Regular follow-up appointments allow us to monitor hormone levels, adjust treatment as needed, and address any concerns promptly.
Meet the Well by Messer (WBM) Team
Under the leadership of top endocrinologist in New York, Dr. Caroline Messer, our caring and talented team of board-certified endocrinologists, psychologists, nutritionists, and personal trainers will be dedicated to supporting your success and regaining your metabolic health at our metabolic centers in Manhattan.
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