Thalidomide-Induced Primary Amenorrhea in a Patient With HbE/Beta-Thalassemia.

JCEM Case Rep

Department of Endocrinology & Metabolism, Institute of Postgraduate Medical Education & Research, Kolkata, West Bengal 700020, India.

Published: May 2023

AI Article Synopsis

  • An 18-year-old girl with a history of hemoglobin E/beta-thalassemia underwent evaluation for primary amenorrhea, having had blood transfusions regularly since childhood and started on thalidomide at age 12 to reduce those needs.
  • Despite normal growth and sexual maturation (Tanner stage 4), she experienced primary ovarian dysfunction indicated by elevated gonadotropins and the absence of ovarian follicles, while her karyotype was normal (46,XX).
  • After discontinuing thalidomide, she spontaneously achieved menarche three months later, with follow-up ultrasounds showing the recovery of ovarian function and follicular development, although the exact relationship between thalidom

Article Abstract

An 18-year-old girl was evaluated for primary amenorrhea. She was diagnosed with hemoglobin E (HbE)/beta-thalassemia during childhood and needed blood transfusions every month to maintain adequate hemoglobin levels. She was started on thalidomide to reduce her transfusion requirements at 12 years of age and became transfusion independent after 6 months. She had normal stature and Tanner stage 4 sexual maturation, but she failed to attain menarche. Investigations revealed that she had elevated serum gonadotropin levels, indicating primary ovarian dysfunction. Her karyotype was 46,XX. Ultrasonographic examination demonstrated the absence of follicles in both ovaries. There was no evidence of abnormalities of the urogenital tract. Thalidomide was stopped, and she attained menarche spontaneously 3 months thereafter. Subsequently, her menstrual cycles were regular. Repeat ultrasound scans demonstrated the presence of ovarian follicles as well as an increase in ovarian volume. Mechanistic links between ovarian dysfunction and thalidomide remain to be found. One possibility is impaired blood flow and follicular development.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580460PMC
http://dx.doi.org/10.1210/jcemcr/luad057DOI Listing

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