CHARGE syndrome with both primary and secondary hypogonadism

Q4 Medicine

IJU Case Reports Pub Date : 2024-01-31 DOI:10.1002/iju5.12694

Yuki Yoshida, Soichiro Ogawa, Satoru Meguro, Akifumi Onagi, Ryo Tanji, Kanako Matsuoka, Seiji Hoshi, Junya Hata, Yuichi Sato, Hidenori Akaihata, Masao Kataoka, Motohide Uemura, Yoshiyuki Kojima

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Abstract

Introduction

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.

Case presentation

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.

Conclusion

This appears to be the first report of CHARGE syndrome with both primary and secondary hypogonadism demonstrated in endocrinological and histological examinations.

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同时患有原发性和继发性性腺功能减退症的 CHARGE 综合征

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低下。我们在此报告了一例独特的同时伴有原发性和继发性性腺功能减退的 CHARGE 综合征患者，并讨论了该患者可能的病因和发病机制。体格检查和染色质-蒜酶-脱氧核糖核酸结合蛋白 7 基因突变证实了 CHARGE 综合征。激素刺激试验提示他患有原发性和继发性性腺功能减退症。由于睾酮分泌减少和双侧睾丸萎缩，患者接受了腹腔镜双侧睾丸切除术。睾丸病理检查显示，睾丸成熟停滞、生殖细胞原位肿瘤和类固醇合成酶表达减少。这似乎是首例在内分泌学和组织学检查中同时显示原发性和继发性性腺功能减退的 CHARGE 综合征患者。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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