Iatrogenic chimerism in a patient with Fanconi anemia and delayed puberty

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Abstract

The article presents a clinical case of delayed puberty in a 13-year-old girl with Fanconi anemia who was sent to the Department of gynecology of children and adolescents for removal of the sexual glands due to the detection of a Y-chromosome in the karyotype at the place of residence. A personalized multidisciplinary approach to the management of a patient with Fanconi anemia with the presence of the Y-chromosome in the karyotype against the background of delayed puberty allowed to identify iatrogenic chimerism and avoid unjustified castration.

 

About the authors

Zaira Kh. Kumykova

Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

Author for correspondence.
Email: zai-kumykova@yandex.ru

Cand. Sci. (Med.)

Russian Federation, Moscow

Irina A. Kiseleva

Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

Email: iakiseleva@mail.ru
ORCID iD: 0000-0003-2493-090X

Cand. Sci. (Med.)

Russian Federation, Moscow

Zalina K. Batyrova

Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

Email: iakiseleva@mail.ru
ORCID iD: 0000-0003-4997-6090

Cand. Sci. (Med.)

Russian Federation, Moscow

Olga A. Buyanovskaya

Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology

Email: o_buyanovskaya@oparina4.ru

Cand. Sci. (Med.)

Russian Federation, Moscow

References

  1. Fiesco-Roa MO, Giri N, McReynolds LJ et al. Genotypephenotype associations in Fanconi anemia: A literature review. Blood Rev 2019; 37. https://doi.org/10.1016/j.blre.2019.100589
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  3. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica 2018; 103 (1): 30–9.
  4. Rodriguez A, D’Andrea A. Fanconi anemia pathway. Curr Biol 2017; 27 (18): R986-r8.
  5. McCann S, Lawler M. Mixed chimerism; detection and significance following BMT. Bone Marrow Translant 1993; 11: 91–4.
  6. Tippet P. Blood group chimeras: A review. Vox Sang 1983; 44: 333–59.
  7. Bader P, Niethammer D, Willasch A et al. How and when should we monitor chimerism after allogeneic stem cell transplantation? Bone Marrow Transplant 2005; 35 (2): 107–19.

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2. Fig. 1. The patient’s general appearance at the moment of admission to the hospital.

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3. Fig. 2. The patient’s general appearance in 1 and 2 months after discharge from the hospital (pubertal spurt).

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