Vaz de Assunção Guilherme, Silva Beatriz T, Saraiva Miguel, Carvalho Rui
Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Santo Antônio de Santo António, Porto, PRT.
Cureus. 2024 Sep 5;16(9):e68741. doi: 10.7759/cureus.68741. eCollection 2024 Sep.
The 46,XX male syndrome is a very rare disorder/difference of sex development (DSD). Characterized by a 46,XX karyotype with a male phenotype and various abnormalities, including virilized external genitalia, small testes, hypergonadotropic hypogonadism, and azoospermia. Primarily described in small population studies and clinical reports, much remains to be understood about the prevalence of clinical manifestations, treatment outcomes, and long-term follow-up in this disorder. Here we describe a 24-year-old male who sought medical attention due to a history of erectile dysfunction, associated with a loss of libido, impaired concentration, difficulty sleeping, and bilateral gynecomastia. He and his family had no relevant medical history. On physical examination, the patient had a normal development of secondary sexual characteristics but presented with bilateral testicular atrophy with a volume of 6 ml per testis. A testicular and abdominal ultrasound were performed confirming testicular atrophy and finding no other abnormalities. Laboratory analysis revealed a hypergonadotropic hypogonadism with normal prolactin, thyroid stimulating hormone, hemoglobin, hematocrit, and kidney and liver function. The spermiogram, performed twice, revealed azoospermia. A bone densitometry was also performed, reporting osteopenia in the lumbar spine and left hip. A karyotype test was performed revealing a 46,XX (-positive) DSD. The patient started on therapeutic supplementation with testosterone showing marked improvement of his libido, erectile dysfunction, and return of testosterone to levels within range. The patient and his partner were referred to infertility outpatient care and subsequently opted for in vitro fertilization using a sperm donor. This case report highlights the need for clinical practical awareness of this rare disorder and its wide phenotypical spectrum while also focusing on important aspects of the current literature regarding its approach and treatment. The limited data on long-term management suggest that there is a need for specialized multicenter follow-up not only to ensure a better understanding of this disorder but also to provide a better care on the quality of life and healthy well-being of this patients.
46,XX男性综合征是一种非常罕见的性发育障碍/差异（DSD）。其特征为具有男性表型的46,XX核型以及各种异常情况，包括外生殖器男性化、小睾丸、高促性腺激素性性腺功能减退和无精子症。主要在小规模人群研究和临床报告中有所描述，关于该疾病临床表现的患病率、治疗结果和长期随访仍有许多有待了解之处。在此，我们描述一名24岁男性，因勃起功能障碍病史前来就医，伴有性欲减退、注意力不集中、睡眠困难和双侧乳腺增生。他和他的家人没有相关病史。体格检查时，患者第二性征发育正常，但双侧睾丸萎缩，每个睾丸体积为6毫升。进行了睾丸和腹部超声检查，证实睾丸萎缩且未发现其他异常。实验室分析显示高促性腺激素性性腺功能减退，催乳素、促甲状腺激素、血红蛋白、血细胞比容以及肝肾功能均正常。精液分析进行了两次，结果均显示无精子症。还进行了骨密度测定，报告显示腰椎和左髋部骨质减少。进行了核型检测，结果显示为46,XX（阳性）DSD。患者开始接受睾酮治疗补充，其性欲、勃起功能障碍明显改善，睾酮水平恢复到正常范围。患者及其伴侣被转诊至不孕不育门诊，随后选择使用精子捐赠者进行体外受精。本病例报告强调了临床对这种罕见疾病及其广泛表型谱的实际认识的必要性，同时也关注当前文献中关于其诊断方法和治疗的重要方面。关于长期管理的有限数据表明，需要进行专门的多中心随访，不仅是为了更好地了解这种疾病，也是为了更好地关注这些患者的生活质量和健康福祉。
