Thalassemia is among the most common genetic disorders occurring worldwide, resulting in the defective synthesis of haemoglobin. Treatment can help, but this condition cannot be cured as there will be no or insufficient blood production in such patients; they require regular blood transfusions. The patients are usually stunted in growth with hepatosplenomegaly and other features.

KS is usually associated with gynaecomastia, tall stature and infertility. This condition is generally identified in men’s prepubertal stage due to the non-development of secondary sexual characters. But, rarely, the chromosomal analysis would be done in childhood since the manifestation of the secondary sexual characters would be shown in the pubertal stage.

In our study, the patient was anaemic and was under transfusion and suspected of Thalassemia with additional features of short stature and gonadal dysfunction. He was referred for short-stature evaluation, and a chromosomal analysis was done. Although haemoglobin electrophoresis confirmed Thalassemia, the mutation was unknown. Hence, mutation detection confirmed compound heterozygous variants in the HBB gene. Also, as the secondary sexual characters were underdeveloped, the AZF gene deletions were checked. The chromosomal analysis revealed 47,XXY, and the AZF gene on Y chromosome showed no deletions. There are reports of Thalassemia with delayed puberty and growth retardation in literature. And as mentioned, the features of KS are tall stature and infertility. In this case, although delayed puberty is a feature associated with both Thalassemia and KS, the short-stature phenotype in the patient is a feature that is not found in KS. Still, the stunted growth may be due to blood transfusion.

KS is associated with the development of tumours of the seminiferous tubules and breast cancer [6]. There have also been few reports of the coexistence of haematological malignancies and KS [6]. Autoimmune diseases, diabetes mellitus and hypothyroidism, are also common in KS. Hence, testosterone replacement therapy could be started early to minimize androgen deficiency’s physical and psychological effects [7].

In our case, the short stature is probably caused due to Thalassemia,
and although KS is present, the tall stature is masked.

We recommend that chromosomal analysis be offered as the first-tier test to all the Thalassemia male children to rule out any sex chromosomal abnormalities. This would help the patients in early diagnosis of suspected malignancies. Furthermore, it also helps in counselling the patient and further referring to the Endocrinologist for any tumours.

In conclusion, this is the second case in the literature with the coexistence of two different genetic disorders exhibited in a single individual. Although the first case reports both Thalassemia and Klinefelter syndrome associations, their case had no short stature. The diagnosis at an early age could help better manage genetic disorders.

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