Vaidyanathan Priya, Kaplowitz Paul
Division of Endocrinology, Children's National Health System, Washington, District of Columbia, USA.
Endocrinol Diabetes Metab Case Rep. 2018;2018. doi: 10.1530/EDM-18-0128. Epub 2018 Dec 28.
Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty. It resolves in 1-2 years and requires no treatment. However, more persistent and severe pubertal gynecomastia is less common and can be associated with pathological disorders. These can be due to diminished androgen production, increased estrogen production or androgen resistance. We report a case of persistent pubertal gynecomastia due to partial androgen insensitivity syndrome (PAIS), classical hormone findings and a novel mutation in the androgen receptor (AR) gene. Learning points: Laboratory testing of follicle-stimulating hormone (FSH), leutinizing hormone (LH) and testosterone for pubertal gynecomastia is most helpful in the setting of undervirization. The hormonal finding of very high testosterone, elevated LH and estradiol and relatively normal FSH are classical findings of PAIS. Gynecomastia due to PAIS will not resolve and surgery for breast reduction should be recommended.
青春期男性乳房发育很常见，65%的青春期男孩都会出现，被认为是生理性的。其原因被认为是青春期早期睾酮与雌二醇比例的短暂失衡。它会在1至2年内自行消退，无需治疗。然而，更持久、更严重的青春期男性乳房发育则不太常见，可能与病理性疾病有关。这些可能是由于雄激素分泌减少、雌激素分泌增加或雄激素抵抗所致。我们报告一例因部分雄激素不敏感综合征（PAIS）导致的持续性青春期男性乳房发育病例，有典型的激素检查结果以及雄激素受体（AR）基因的一个新突变。学习要点：对于青春期男性乳房发育，检测促卵泡生成素（FSH）、促黄体生成素（LH）和睾酮，在存在男性化不足的情况下最有帮助。睾酮水平极高、LH升高、雌二醇升高且FSH相对正常的激素检查结果是PAIS的典型表现。由PAIS导致的男性乳房发育不会自行消退，应建议进行乳房缩小手术。
