뇌하수체줄기 형성 부전으로 발생한 시상하부성 뇌하수체 기능저하증 1예
Hypothalamic Hypopituitarism Caused by Pituitary Stalk Dysgenesis
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초록
본 증례는 9세경 저신장으로 성장호르몬 및 갑상선호르몬 이상을 진단받고 불규칙하게 치료받았던 과거력이 있는 28세 남자 환자가 성기능 장애에 대한 불안으로 내원하여 뇌하수체 줄기 단절에 의한 시상하부성 뇌하수체 호르몬 이상을 진단받고 사춘기 발현과 생식기능의 유지를 위한 치료를 시행하게 된 1예를 경험하였기에 문헌고찰과 함께 보고하는 바이다.
Abstract
Functional defects of the pituitary gland are a rare cause of pubertal delay. The pituitary stalk is an important structure that connects the hypothalamus and pituitary gland. A defect in fusion of the pituitary stalk and anterior pituitary gland will block the function of the anterior pituitary gland. A 28-year-old man was referred to our clinic with poorly developed secondary sexual characteristics. He had undeveloped facial, axillary, and pubic hair and was Tanner stage I. Laboratory tests gave random serum testosterone < 0.025 ng/mL, luteinizing hormone (LH) < 0.1 mIU/mL, follicle-stimulating hormone (FSH) 0.626 mIU/mL, thyroid-stimulating hormone (TSH) 6.85 µIU/mL, and fT4 6.96 pmol/L. Sella magnetic resonance imaging (MRI) showed no pituitary stalk enhancement. The response in the combined pituitary function test revealed multiple hormonal defects, while the TSH response to thyrotropin-releasing hormone (TRH) was exaggerated and delayed. Therefore, we concluded that pituitary stalk dysgenesis had led to hypothalamic-type panhypopituitarism.
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