Al Noaim Khalid
Department of Pediatrics, College of Medicine, King Faisal University, Al-Ahsa, SAU.
Cureus. 2024 Aug 30;16(8):e68195. doi: 10.7759/cureus.68195. eCollection 2024 Aug.
Gonadal dysfunction is a well-known endocrine manifestation of Down syndrome (DS) in men. Herein, we report a case of a seven-year-old boy with DS who developed precocious puberty, presenting with a six-month history of frequent erections, sudden growth spurts, and adult odors. Clinical examination revealed stage 2 puberty, with pubic hair development at stage 2 based on Tanner staging and bilateral testicular volumes of 6 mm. Laboratory tests indicated elevated luteinizing hormone (LH) and follicle-stimulating hormone levels and advanced bone age. A pituitary MRI revealed normal pituitary morphology without any detectable masses. The patient was initially prescribed monthly triptorelin acetate (Decapeptyl) intramuscular injections at a dose of 3.75 mg. Following six months, the treatment was switched to triptorelin pamoate (Diphereline) at a dose of 11.25 mg administered intramuscularly every three months. At age 10, following a three-year course of gonadotropin-releasing hormone (GnRH) agonist therapy, the patient demonstrated a notable decrease in testicular size and a reduction in LH levels, with no reported side effects. Conclusively, our findings imply that idiopathic central precocious puberty in boys with DS can be effectively managed with triptorelin pamoate injections, and early intervention may help alleviate the psychosocial impact of this condition.
性腺功能障碍是唐氏综合征(DS)男性患者中一种广为人知的内分泌表现。在此,我们报告一例7岁患有DS的男孩出现性早熟的病例,其有6个月频繁勃起、突然生长加速和成人气味的病史。临床检查显示青春期2期,根据坦纳分期法阴毛发育为2期,双侧睾丸体积为6毫米。实验室检查表明促黄体生成素(LH)和促卵泡激素水平升高,骨龄提前。垂体磁共振成像显示垂体形态正常,未发现任何肿块。该患者最初每月肌肉注射3.75毫克醋酸曲普瑞林(达必佳)。6个月后,治疗改为每三个月肌肉注射11.25毫克帕莫酸曲普瑞林(得宝松)。10岁时,在接受三年促性腺激素释放激素(GnRH)激动剂治疗后,患者睾丸大小显著减小,LH水平降低,且未报告有副作用。总之,我们的研究结果表明,患有DS的男孩特发性中枢性性早熟可用帕莫酸曲普瑞林注射有效治疗,早期干预可能有助于减轻这种情况对心理社会的影响。