Tanwani Lal K, Chudgar Daksha, Murphree Sidney S, Eblen Abby C, Mokshagundam Sri Prakash L
Department of Endocrinology and Metabolism, University of Louisville, Louisville, Kentucky, USA.
Endocr Pract. 2003 May-Jun;9(3):220-4. doi: 10.4158/EP.9.3.220.
To describe a case of XY gonadal dysgenesis with Tanner stage 4 breast development in the absence of a hormone-producing gonadal neoplasm and with Graves' disease and low bone mass.
The clinical features, laboratory results, and cytogenetic findings in the patient are presented, and the potential mechanisms of breast development are discussed. A MEDLINE search was performed, and related articles in the English-language literature published between 1955 and 2001 were reviewed.
A 23-year-old African American woman was referred to the University of Louisville Hospital for evaluation of hyperthyroidism. About 4 months before this referral, hyperthyroidism was diagnosed, and treatment with methimazole was initiated. She continued to have thyrotoxicosis. Additionally, systemic review disclosed a history of primary amenorrhea. Physical examination revealed a tall phenotypic female patient with Tanner stage 4 breast development. Pelvic examination showed normal findings except for sparse pubic hair. Laboratory evaluation confirmed the diagnosis of Graves' disease as well as primary gonadal failure. Pelvic ultrasonography revealed a small uterus and bilateral adnexal masses (0.9 by 0.6 cm). On chromosomal analysis, a 46,XY karyotype was found. Further analysis of Y-DNA by polymerase chain reaction confirmed the presence of an intact Y chromosome, and no microdeletions were identified. Dual-energy x-ray absorptiometry demonstrated a Z-score of -4.7 and -4.2 at the lumbar spine and right hip, respectively. Graves' disease was successfully treated with (131)I. Laparoscopy was performed to resect streak gonads. On histologic examination, no typical ovarian, testicular, or neoplastic tissue was identified. The breast development in this patient remains unexplained.
To the best of our knowledge, this is the first case report of a tall XY female patient with breast development in the absence of a hormone-producing gonadal neoplasm and without clearly identifiable gonads. Breast development was most likely related to estrogens, possibly produced by either streak gonads at the time of puberty or peripheral conversion of androgens, or to increased sensitivity of breast tissue to estrogens. Graves' disease is likely coincidental and could contribute to bone loss in such subjects.
描述一例XY性腺发育不全患者，其处于坦纳4期乳房发育，不存在产生激素的性腺肿瘤，同时患有格雷夫斯病和低骨量。
介绍该患者的临床特征、实验室检查结果和细胞遗传学发现，并讨论乳房发育的潜在机制。进行了MEDLINE检索，并回顾了1955年至2001年间发表的英文文献中的相关文章。
一名23岁非裔美国女性因甲状腺功能亢进被转诊至路易斯维尔大学医院进行评估。在此次转诊前约4个月，诊断出甲状腺功能亢进，并开始用甲巯咪唑治疗。她仍有甲状腺毒症。此外，系统回顾发现有原发性闭经史。体格检查发现一名身材高大的表型女性患者，处于坦纳4期乳房发育。盆腔检查除阴毛稀疏外未见异常。实验室评估证实了格雷夫斯病以及原发性性腺功能衰竭的诊断。盆腔超声显示子宫小，双侧附件区有肿块（0.9×0.6 cm）。染色体分析发现核型为46,XY。通过聚合酶链反应对Y-DNA进行进一步分析证实存在完整的Y染色体，未发现微缺失。双能X线吸收法显示腰椎和右髋部的Z值分别为-4.7和-4.2。格雷夫斯病通过碘-131成功治疗。进行腹腔镜手术切除条索状性腺。组织学检查未发现典型的卵巢、睾丸或肿瘤组织。该患者的乳房发育原因仍无法解释。
据我们所知，这是首例关于身材高大的XY女性患者乳房发育的病例报告，该患者不存在产生激素的性腺肿瘤且无明确可识别的性腺。乳房发育很可能与雌激素有关，可能是青春期时条索状性腺产生的雌激素，或雄激素的外周转化，也可能是乳房组织对雌激素的敏感性增加。格雷夫斯病可能是巧合，并且可能导致此类患者骨质流失。
