ESPE Abstracts (2022) 95 P2-249

1Pediatric Endocrinology, Health Science University, Dr. Sami Ulus Gynecology, Obstetrics, and Child Health and Diseases Training and Research Hospital, Ankara, Turkey; 2Clinic of Medical Genetics, Health Science University, Dr. Sami Ulus Gynecology, Obstetrics, and Child Health and Diseases Training and Research Hospital, Ankara, Turkey

Introduction: Beta thalassemia major (βTM) is an autosomal recessive anemia characterized by a defect in the production of the β-globin chain of hemoglobin. There may be endocrine problems secondary to hemochromatosis in the clinical follow-up of the patients. Here, a case who was followed up with the diagnosis of βTM, consulted for primary amenorrhea and diagnosed with 5-alpha reductase deficiency (5ARD) is presented and clinical follow-up experiences are shared.

Case: A 15-year-old refugee girl born from consanguineous marriage was consulted from the hematology department because of primary amenorrhea. In her history, it was learned that she was diagnosed with βTM at the age of five months, received erythrocyte transfusion every three weeks, used deferiprone, had a splenectomy at the age of six, and was not followed up regularly. The patient who migrated to our country with her family was followed up in the hematology clinic. A 21-year-old older sister also had primary amenorrhea and gender preference was male. She had two siblings with a diagnosis of βTM. The patient's weight was: 42.4 kg (-2.23 SDS), height: 143.4 cm [-3.1SDS), BMI: 20.62kg/m2 (-0.15SDS)]. She had typical thalassemic facial appearance, 2/6 systolic murmur, female external genitalia, bilateral breast stage I, pubic hair stage I, a long 1.5 cm diameter mass in the bilateral inguinal region. Inguinal masses were interpreted as testis by ultrasound. Genetic analysis revealed IVS-I-110 (G>A) heterozygous mutation in the Beta thalassemia gene. Laboratory examination results were consistent with hypogonadotropic hypogonadism and primary hypothyroidism, LT4 treatment was started. Peak LH response was 6.54 mIU/ml in the LHRH stimulation test, and the anterior pituitary gland was 4 mm in the pituitary MRI. Karyotype analysis was 46,XY. in the hCG stimulation test(1500 IU/day, 3 days); basal and stimulated total testosterone levels were 46.45 and 118.95 ng/dl, respectively. The testosterone/Dihydrotestosterone ratio was found as 65. Genetic analysis revealed NM_000348,3c.269A>C(p.His90Pro) homozygous variant in SRD5A2 gene. She adopted the male gender as her sexual identity. The patient's family did not approve of this sexual identity preference. In the follow-up, insulin dependent diabetes developed and insulin therapy was started.

Conclusion: The endocrine problems associated with hemochromatosis are expected in βTM. Here, the 5ARD' diagnosis process in a βTM case with primary amenorrhea is presented. In this case, both genetic conditions are together, and sexual preference and the problems of being a refugee provide important experiences.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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