ACTA ENDOCRINOLOGICA (BUC)

We report a case of an infant with syndromic 46,XY disorder of sexual development. The subject was born at term, to unrelated parents with no relevant medical history. At birth the infant was assigned female. Physical examination showed dysmorphic features and ambiguous external genitalia. Cytogenetic analysis of cultured peripheral blood lymphocytes revealed a male karyotype. The result of the chromosomal investigation showing male genetic sex, together with the ambivalent aspect of the external genitalia (Prader IV) and gonads that are exclusively testes led to the diagnosis of 46,XY disorder of sexual development. The clinical management will help the child and the family deal effectively with this condition A multidisciplinary approach to this problem involving pediatricians, specialists in the field of endocrinology, genetics, surgery and psychiatry is necessary in order to reach a prompt and correct diagnosis and treatment.

Small lymphocytic lymphoma (SLL) is an indolent lymphoma. Hypercalcemia is rarely associated with this type of lymphoma and was reported as a Richter`s transformation sign of SLL in the literature. We report a case of a 64-yearold man, with many comorbidities, including cardiac and renal pathologies, known with hepatitis B. Small lymphocytic B lymphoma with genetic risk factors, such as TP53, 17p and unmutated IGHV was diagnosed by laterocervical node biopsy. During chemotherapy, the patient initially presented sciatic pain, leading to the suspicion of a new associated malignancy, but the lumbar MRI excluded osteolysis. A few weeks later, the patient presented with neurological symptoms and dangerous hypercalcemia and high levels of iPTH were discovered. Parathyroid determination was discovered and the second line therapy with Venetoclax- Rituximab was chosen, but unfavorable evolution was noted, with activated macrophage syndrome, disseminated intravascular coagulation and multiple organ dysfunction syndrome. The genetic risk factors and the presence of hypercalcemia are markers of negative prognosis and unfavorable evolution of the disease.