📂 Diseases
ACTH unresponsiveness — Definition
ACTH duyarsızlığı / ACTH unresponsiveness
Adrenal glands do not respond to adrenotropic hormone (ACTH). This condition is characterized by insufficient cortisol and other steroid hormones, despite the ACTH warning of the adrenal cortex. It often occurs depending on genetic mutations and is also called congenital adrenal hypoplasia or a lack of family glucocorticoid. Clinically hypoglycemia can manifest itself with symptoms such as fatigue, hypotension and hyperpigmentation on the skin.
Disease Definition
🔬 Disease Definition
ACTH unresponsiveness (Ailesel Glukokortikoid Eksikliği tip 1), adrenal bezlerin ACTH'ye yanıt vermemesi sonucu ortaya çıkan, otozomal resesif geçişli nadir bir hastalıktır. Genellikle MC2R genindeki mutasyonlardan kaynaklanır.
🧬 Causes & Risk Factors
MC2R (ACTH reseptörü) veya MRAP (MC2R aksesuar proteini) genlerindeki mutasyonlar. Otozomal resesif kalıtım.
🩺 Symptoms & Signs
Yenidoğan döneminde hipoglisemi, konvülziyonlar, uzamış sarılık, hiperpigmentasyon, tekrarlayan enfeksiyonlar, büyüme geriliği, adrenal kriz (hipotansiyon, şok).
📋 Diagnostic Methods
Klinik bulgular, düşük kortizol ve yüksek ACTH seviyeleri, ACTH uyarı testine yanıtsızlık, genetik test (MC2R/MRAP mutasyon analizi).
💊 Treatment Options
Glukokortikoid replasman tedavisi (hidrokortizon), stres durumlarında doz artışı, mineralokortikoid replasmanı genellikle gerekmez.
⚠️ Complications
Adrenal kriz, tekrarlayan enfeksiyonlar, büyüme ve gelişme geriliği, tedavi edilmezse ölümcül seyir.
Frequently Asked Questions
❓ What is ACTH duyarsızlığı?
ACTH duyarsızlığı; adrenal glands do not respond to adrenotropic hormone (ACTH). This condition is characterized by insufficient cortisol and other steroid hormones, despite the ACTH warning of the adrenal cortex. It often occurs depending on genetic mutations and is also called congenital adrenal hypoplasia or a lack of family glucocorticoid. Clinically hypoglycemia can manifest itself with symptoms such as fatigue, hypotension and hyperpigmentation on the skin.
❓ What is ACTH unresponsiveness in Turkish?
The Turkish equivalent of "ACTH unresponsiveness" is ACTH duyarsızlığı.
❓ Which medical field is ACTH duyarsızlığı related to?
This term belongs to the Diseases category.