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

Kruszewska, Jagoda; Krzywdzińska, Sandra; Grymowicz, Monika; Smolarczyk, Roman; Męczekalski, Błażej

doi:10.1080/09513590.2019.1703941

Cited by 4 publications

(2 citation statements)

References 11 publications

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“…There are two similar cases reported previously. One study reported a childhood cancer survivor with premature ovarian insufficiency and 46, XY karyotype in lymphocytes after chemotherapy and BMT from an unrelated male donor, and the karyotype appeared to be 46, XX in the swab sample from the cheek, which contained fibroblasts ( 9 ). The other report showed a patient with primary amenorrhea and 46, XY karyotype after receiving BMT from her brother and chemotherapy due to acute myeloid leukemia ( 10 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Is It Premature Ovarian Insufficiency or Swyer Syndrome After Bone Marrow Transplantation?

et al. 2022

Front. Pediatr.

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Introduction: Iatrogenic factor is one of the recognized causes for premature ovarian insufficiency. The aim of this case report was to present a rare case with premature ovarian insufficiency and 46, XY karyotype after bone marrow transplant (BMT) for thalassaemia major at childhood. We also reviewed some relevant literature in this report.Case Presentation: A 17-year-old girl was presented with primary amenorrhea and premature ovarian insufficiency after receiving chemotherapy and BMT from her brother due to thalassaemia major at childhood. She had poor secondary sex characteristics, assessed as stage I for the development of breasts and external genitalia based on the Tanner scale. Transabdominal ultrasound showed small uterus with visible endometrial lining and small ovaries. Laboratory data showed hypergonadotropic hypogonadism profile with low level of estrogen and high level of follicular-stimulating hormone (FSH). Patient's peripheral lymphocytes karyotype was 46, XY.Conclusions: This case was diagnosed as a chemotherapy induced premature ovarian insufficiency. Patient's peripheral lymphocytes karyotype (46, XY) after she received BMT from a male donor was a misleading finding, and the case could be easily misdiagnosed as Swyer syndrome. A correct diagnosis in such cases should depend not only on the recent clinical findings, but also on the detailed medical history. To prevent premature ovarian insufficiency in similar cases, fertility preservation should be offered to girls before they receive chemotherapy, total body irradiation and BMT.

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Section: Discussionmentioning

confidence: 99%

Case Report: Is It Premature Ovarian Insufficiency or Swyer Syndrome After Bone Marrow Transplantation?

et al. 2022

Front. Pediatr.

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“…There are two similar cases reported previously. One study reported a childhood cancer survivor with premature ovarian insu ciency and 46 XY karyotype in lymphocytes after chemotherapy and BMT from an unrelated male donor, 9 and the other report showed a patient with primary amenorrhea and 46 XY karyotype after receiving BMT from her brother and chemotherapy due to acute myeloid leukemia. 10 The authors from both reports also found a high likelihood of misdiagnosis of Swyer syndrome, which was similar to our report.…”

Section: Discussionmentioning

confidence: 99%

Premature Ovarian Insufficiency After Bone Marrow Transplantation for Thalassemia Major in a Patient With Primary Amenorrhea and 46, XY Karyotype: a Case Report and Literature Review

H¹,

Li²,

X³

et al. 2021

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Background: Iatrogenic factor is one of the recognized causes for premature ovarian insufficiency. The aim of this case report was to present a rare case with premature ovarian insufficiency and 46, XY karyotype after bone marrow transplant for thalassaemia major at childhood. We also reviewed some relevant literature in this report.Case presentation: A 17-year-old girl was presented with primary amenorrhea and premature ovarian insufficiency after receiving chemotherapy and bone marrow therapy from her brother due to thalassaemia major at childhood. She had poor secondary sex characteristics, assessed as stage I for the development of breasts and external genitalia based on the Tanner scale. Transabdominal ultrasound showed small uterus with visible endometrial lining and small ovaries. Laboratory data showed hypergonadotropic hypogonadism profile with low level of estrogen and high level of follicular-stimulating hormone (FSH). Patient’s peripheral lymphocytes karyotype was 46, XY. Conclusions: A correct diagnosis is not only dependent on clinical manifestations, but also the detailed medical history. In light of the relatively high prevalence of thalassemia, fertility preservation should be considered for young girls before they receive chemotherapy, radiation treatment and bone marrow transplant.

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Amenorrhoea with XY karyotype postbone marrow transplant

et al. 2021

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A 17-year-old girl presented with secondary amenorrhoea. She developed normal age-appropriate secondary sexual characteristics and attained menarche at the age of 13 years. One year following her menarche, she was diagnosed with acute myeloid leukaemia and was treated with chemotherapy, total body radiation and bone marrow transplant with complete remission. The matched donor was her elder male sibling. Her evaluation for secondary amenorrhoea included full hormonal analysis and pelvic ultrasound scan. These suggested hypergonadotrophic hypogonadism with a normal uterus and ovaries. Peripheral leucocyte karyotype as part of routine hypogonadism workup was found to be 46 XY. The differential diagnosis of Swyer syndrome, which entails surgical removal of gonads due to the high risk of gonadoblastoma, was raised initially before reviewing the laboratory results of previous chromosomal analysis. Considering her medical history, the amenorrhoea was finally attributed to ovarian insufficiency due to chemotherapy and radiotherapy. The 46 XY karyotyping could be explained by the bone marrow transplant received from her donor brother. Hypogonadism causing amenorrhoea is commonly encountered after chemoradiotherapy. Pretreatment and post-treatment chromosomal analysis is essential in such cases. Karyotyping could be misleading especially if the patient suffered from graft-versus-host reaction post gender mismatched bone marrow transplant.

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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

Cited by 4 publications

References 11 publications

Case Report: Is It Premature Ovarian Insufficiency or Swyer Syndrome After Bone Marrow Transplantation?

Case Report: Is It Premature Ovarian Insufficiency or Swyer Syndrome After Bone Marrow Transplantation?

Premature Ovarian Insufficiency After Bone Marrow Transplantation for Thalassemia Major in a Patient With Primary Amenorrhea and 46, XY Karyotype: a Case Report and Literature Review

Amenorrhoea with XY karyotype postbone marrow transplant

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