POI after chemotherapy and bone marrow transplant may mimic disorders of sexual differentiation – a case report of a patient with primary amenorrhea and 46, XY karyotype

Abstract

Cytogenetic examination may be useful in determining the reason for primary amenorrhea in phenotypically female patients. The result 46, XY usually indicates two syndromes: complete androgen insensitivity or pure gonadal dysgenesis. We report a case of a patient, who due to acute lymphoblastic leukemia in childhood was treated with total body irradiation and bone marrow transplantation. Later on the patient presented with symptoms typical for premature ovarian failure and male karyotype in peripheral lymphocytes. The cytogenetic examination for peripheral cells showed normal female karyotype. Therefore, it has been concluded that ovarian function impairment resulted rather from the gonadotoxic effect of oncological treatment than as a disorder of sexual differentiation. The survival rates of childhood cancer are very high and some of the patients will experience premature ovarian failure. It must be remembered that after bone marrow transplantation karyotype of peripheral lymphocytes may be misleading.

摘要

细胞遗传学检查可能有助于确定表型女性患者原发性闭经的原因。46,XY的结果通常提示两种综合征：完全型雄激素不敏感或单纯性腺发育不全。我们报告一例患者, 由于儿童期患急性淋巴细胞白血病, 接受了全身照射和骨髓移植治疗。之后, 患者表现出典型的卵巢早衰症状和外周淋巴细胞中的男性核型。外周细胞的细胞遗传学检查显示正常的女性核型。因此会得出这样的结论：卵巢功能损害不是由肿瘤治疗的性腺毒性作用引起的, 而是由性分化异常引起的。儿童期肿瘤的生存率很高, 有些患者会发生卵巢早衰。但必须记住的是, 骨髓移植后外周淋巴细胞的核型可能引发误导。

The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China.

Keywords:

• Primary ovarian failure
• acute lymphoblastic leukemia
• bone marrow transplantation
• disorders of sexual differentiation

Disclosure statement

The authors report no conflict of interest.