PDF(Pubmed)
Abstract：
UNASSIGNED: CHARGE syndrome is a rare disorder that causes congenital abnormalities in multiple organs, including secondary hypogonadism. We report, herein, a unique case of CHARGE syndrome with both primary and secondary hypogonadism and discuss the possible causes and pathogenesis in this patient.
UNASSIGNED: A 15-year-old boy with delayed secondary sexual characteristics and non-palpable testes was referred to our hospital. Physical examination and detection of a chromodomain-helicase-deoxyribonucleic acid-binding protein 7 gene mutation confirmed CHARGE syndrome. Hormone stimulation tests suggested both primary and secondary hypogonadism. Laparoscopic bilateral orchiectomy was performed because of decreased testosterone production and atrophy in both testes. Pathological examination of the testes revealed maturation arrest, germ cell neoplasm in situ, and decreased expression of steroid synthase.
UNASSIGNED: This appears to be the first report of CHARGE syndrome with both primary and secondary hypogonadism demonstrated in endocrinological and histological examinations.
UNASSIGNED: A 15-year-old boy with delayed secondary sexual characteristics and non-palpable testes was referred to our hospital. Physical examination and detection of a chromodomain-helicase-deoxyribonucleic acid-binding protein 7 gene mutation confirmed CHARGE syndrome. Hormone stimulation tests suggested both primary and secondary hypogonadism. Laparoscopic bilateral orchiectomy was performed because of decreased testosterone production and atrophy in both testes. Pathological examination of the testes revealed maturation arrest, germ cell neoplasm in situ, and decreased expression of steroid synthase.
UNASSIGNED: This appears to be the first report of CHARGE syndrome with both primary and secondary hypogonadism demonstrated in endocrinological and histological examinations.
摘要：
■CHARGE综合征是一种罕见的疾病，可导致多个器官的先天性异常，包括继发性性腺功能减退.我们报告,在这里，1例CHARGE综合征合并原发性和继发性性腺功能减退症的独特病例，并讨论该患者的可能原因和发病机制。
■一名15岁男孩，有迟发性第二性征，睾丸无法触及到我们医院。体格检查和色域-解旋酶-脱氧核糖核酸结合蛋白7基因突变的检测证实CHARGE综合征。激素刺激试验提示原发性和继发性性腺功能减退症。腹腔镜双侧睾丸切除术是由于睾丸激素产生减少和两个睾丸萎缩。睾丸的病理检查显示成熟停滞，生殖细胞原位肿瘤，类固醇合成酶的表达降低。
■这似乎是在内分泌和组织学检查中显示的原发性和继发性性腺功能减退的CHARGE综合征的第一份报告。
■一名15岁男孩，有迟发性第二性征，睾丸无法触及到我们医院。体格检查和色域-解旋酶-脱氧核糖核酸结合蛋白7基因突变的检测证实CHARGE综合征。激素刺激试验提示原发性和继发性性腺功能减退症。腹腔镜双侧睾丸切除术是由于睾丸激素产生减少和两个睾丸萎缩。睾丸的病理检查显示成熟停滞，生殖细胞原位肿瘤，类固醇合成酶的表达降低。
■这似乎是在内分泌和组织学检查中显示的原发性和继发性性腺功能减退的CHARGE综合征的第一份报告。
