선천성 뇌하수체기능저하증 · 희귀질환 · 메디나우 · medinow

선천성 뇌하수체기능저하증 (Congenital hypopituitarism)의 공식 지정 정보와 코드, 공개 등록 기준, 질환 설명 및 출처를 확인하세요.

A group of rare disorders characterized by multiple pituitary hormone deficiencies, including somatotropin, thyrotropin, lactotropin, corticotropin and gonadotropin deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Clinical presentation varies depending on the type and severity of the deficiencies as well as the age at diagnosis. If left untreated, the main symptoms include short stature, cognitive impairment and delayed puberty.

출처: Orphanet / INSERM · 2026-06-23 · CC BY 4.0 · 영어 원문, HTML 서식 제거 · 영어 원문