Ambachew Rediet, Gulilat Amare, Aberra Tewodros, Terefework Zewdu, Bedilu Wubalem, Tarekegn Getahun, Reja Ahmed
Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia.
MRC-ET Advanced Laboratory, Addis Ababa, Ethiopia.
Endocrinol Diabetes Metab Case Rep. 2022 Feb 1;2022. doi: 10.1530/EDM-21-0103.
Mayer-Rokitansky-Kuster-Hauser syndrome is characterized by congenital absence or hypoplasia of the uterus and upper two-thirds of the vagina in both phenotypically and karyotypically normal females with functional ovaries, whereas gonadal dysgenesis is a primary ovarian defect in otherwise normal 46,XX females. An association between these two conditions is extremely rare. We report a 21-year-old female presented with primary amenorrhea and undeveloped secondary sexual characteristics. The karyotype was 46,XX and the hormonal profile revealed hypothyroidism and hypogonadotropic hypogonadism. Pelvic MRI showed class I Mullerian duct anomaly with ovarian dysgenesis. Ultrasound showed bilateral thyroid hypoplasia and brain MRI suggested anterior pituitary hypoplasia. Levothyroxine and hormone replacement therapy were started.
The simultaneous presentation of 46,XX gonadal dysgenesis, Mayer-Rokitansky-Kuster-Hauser syndrome, hypothyroidism, and pituitary hypoplasia is a Possibility. Extensive evaluation should be made when a patient presents with one or more of these features. The diagnosis imposes a significant psychological burden on patients and adequate counseling should be provided. Hormone replacement therapy remains the only therapeutic option for the development of secondary sexual characteristics and the prevention of osteoporosis.
迈耶-罗基坦斯基-库斯特-豪泽综合征的特征是，在表型和核型均正常且卵巢功能正常的女性中，子宫及阴道上三分之二先天性缺失或发育不全，而性腺发育不全是原本正常的46,XX女性的原发性卵巢缺陷。这两种情况之间的关联极为罕见。我们报告一名21岁女性，表现为原发性闭经和第二性征未发育。核型为46,XX，激素水平显示甲状腺功能减退和低促性腺激素性性腺功能减退。盆腔MRI显示I类苗勒管异常伴卵巢发育不全。超声显示双侧甲状腺发育不全，脑部MRI提示垂体前叶发育不全。开始使用左甲状腺素和激素替代疗法。
46,XX性腺发育不全、迈耶-罗基坦斯基-库斯特-豪泽综合征、甲状腺功能减退和垂体发育不全同时出现是有可能的。当患者出现这些特征中的一种或多种时，应进行全面评估。该诊断给患者带来了巨大的心理负担，应提供充分的咨询。激素替代疗法仍然是促进第二性征发育和预防骨质疏松的唯一治疗选择。
