Barsal Çetiner Ebru, Donbaloğlu Zeynep, Singin Berna, Aydın Behram Bilge, Çetin Kürşat, Karagüzel Güngör, Tuhan Hale, Parlak Mesut
Department of Pediatric Endocrinology, Akdeniz University Hospital, Antalya, Türkiye.
Department of Pediatric Surgery, Akdeniz University, Antalya, Türkiye.
Turk Arch Pediatr. 2024 Sep 2;59(5):476-479. doi: 10.5152/TurkArchPediatr.2024.24095.
Mixed gonadal dysgenesis (MGD) is an uncommon chromosomal Disorder of Sexual Development (DSD). There is insufficient information regarding clinical findings and growth patterns. This study aimed to provide more information about mixed gonadal dysgenesis, which has not yet been sufficiently defined. Data from 10 patients diagnosed with mixed gonadal dysgenesis were retrospectively reviewed. Clinical presentations, complaints at admission, imaging, genetic results, and treatments received by the patients were examined. Gonadal status and the gender of the patients were reared and evaluated by a multidisciplinary council decision. If received, growth hormone treatment doses and height gains were examined. The patients' ages at admission range from 6 months to 17.5 years. The median height SDS of the patients was -0.75 (2.73), the mean body weight SDS was -0.49 (±1.46), and the mean body mass index (BMI) SDS was 0.26 (±0.97). The complaints at admission varied, including ambiguous genitalia, short stature, and absence of menstruation. Some patients are completely in the female phenotype, while some are inadequately virilized male phenotype. External Masculinization Score (EMS) ranges from 1 to 6.5. The decision to raise 6 patients as female and 4 patients as male was made by a multidisciplinary council. Growth hormone treatment was administered to patients raised as female and diagnosed with short stature. The height SDS gain in treated patients was 0.42 (±0.49). Due to its rarity and varied clinical presentation, our knowledge about mixed gonadal dysgenesis is limited. Therefore, early diagnosis and individualized treatment plans are crucial for this patient group.
混合性性腺发育不全（MGD）是一种罕见的性发育染色体疾病（DSD）。关于临床表现和生长模式的信息不足。本研究旨在提供更多关于尚未得到充分定义的混合性性腺发育不全的信息。对10例诊断为混合性性腺发育不全的患者的数据进行了回顾性分析。检查了患者的临床表现、入院时的主诉、影像学检查、基因检测结果以及接受的治疗。性腺状态和患者的性别由多学科委员会决定并进行评估。如果接受了生长激素治疗，则检查治疗剂量和身高增长情况。患者入院时的年龄范围为6个月至17.5岁。患者的身高标准差中位数为-0.75（2.73），平均体重标准差为-0.49（±1.46），平均体重指数（BMI）标准差为0.26（±0.97）。入院时的主诉各不相同，包括生殖器模糊、身材矮小和闭经。一些患者完全表现为女性表型，而一些患者则表现为男性表型发育不全。外部男性化评分（EMS）范围为1至6.5。多学科委员会决定将6例患者按女性抚养，4例患者按男性抚养。对按女性抚养且诊断为身材矮小的患者进行了生长激素治疗。接受治疗的患者身高标准差增加了0.42（±0.49）。由于其罕见性和临床表现多样，我们对混合性性腺发育不全的了解有限。因此，早期诊断和个体化治疗方案对该患者群体至关重要。
