Premature ovarian failure, short stature, and Hashimoto’s disease in an 18-year-old adolescent girl with 46, X, i(X)(q10)

Abstract

Premature ovarian failure (POF) is a heterogeneous condition affecting girls and women. We detected a previously healthy 18-year-old adolescent girl, presented with amenorrhea over six months, as well as circulating levels of estradiol lower decreased and follicle-stimulating hormone (FSH) increased. She was 138 cm tall. Results of laboratory tests and/or ultrasound investigations showed 46, X, i(X)(q10) karyotype and Hashimoto’s disease. This case suggests that pubertal onset and progression, as well as karyotype analysis, should be evaluated in girls with Hashimoto’s disease and short stature.

摘要

卵巢早衰（POF）是发生在女性中的一种异质性疾病。本案例为一名18岁健康少女出现闭经6个月以上, 并伴随雌激素水平降低和卵泡刺激素（FSH）水平升高。该名少女身高为138cm。生化及影像学检查结果表明, 患者染色体核型异常, 为46, X, i(X)(q10), 且患有桥本氏甲状腺炎。本病例提示该病在青春期即可发生发展, 同时, 对于患有桥本氏甲状腺炎和矮小症的青春期少女应考虑对其进行染色体核型分析。

Keywords:

• Premature ovarian failure
• short stature
• Hashimoto’s disease
• adolescent
• karyotype

Acknowledgments

The authors are truly grateful to the family for their participation and contribution in our research study. We also thank all research staff involved in this case report from Union Hospital, Tongji Medical College, Huazhong University of Science and Technology.

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

This work was supported by grants from Natural Science Foundation of Hubei Province [2017CFB257] and National Natural Science Foundation of China [81471069].