Hypogonadotroper Hypogonadismus aufgrund eines IHH oder Kallmann-Syndroms beim Mann

Hermann M. Behre1, Frank Tüttelmann2, Susanne Ledig2, Peter Wieacker2
1Universitätsklinikum Halle (Saale)
2Aff2_278 grid.16149.3b Institut für Humangenetik Universitätsklinikum Münster Münster Deutschland

Tóm tắt

Tóm Tắt

Ở nam giới, tỷ lệ mắc hội chứng thiếu hụt nội tiết gonadotropin đơn độc (IHH)/Hội chứng Kallmann ước tính khoảng 1:10.000. Triệu chứng chính của IHH là sự phát triển dậy thì không xảy ra, kết hợp với nồng độ gonadotropin giảm và mức testosterone thấp. Nếu có thêm sự bất thường về khứu giác (anosmia/ hyposmia) (khoảng 60% các trường hợp) thì được gọi là Hội chứng Kallmann. IHH/Hội chứng Kallmann là những bệnh lý có sự đa dạng về lâm sàng và di truyền rất cao. Việc chẩn đoán di truyền và các phương pháp điều trị sẽ được thảo luận.

Từ khóa


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