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Objective The most common presentation of Klinefelter syndrome (KS) is infertility and features of hypogonadism. Currently no consensus exists on the risk of malignancy in this syndrome. Several case reports show an incidence of extragonadal germ cells tumors (eGCT) of 1.5 per 1000 KS patients (OR 50 against healthy population). Malignant germ cell tumors are rare in children. They account for 3% of all children cancers. Young patients with a germ cell tumor are not routinely tested for Klinefelter syndrome. This can therefore result in underdiagnosing. Literature data suggest a correlation between eGCT and KS. To the best of our knowledge there is no precise description of the primary locations of germ cell tumors in KS patients. The purpose of this study is to evaluate age groups and primary locations of extragonadal germ cell tumors in Klinefelter patients. With this data we investigate whether it is necessary to perform a cytogenetic analysis for KS in every eGCT patient. Study design This study is based on case report publications in PubMed/Medline published until march 2020 that described “Klinefelter Syndrome (MeSH) AND/OR extragonadal germ cell tumors”. Publications were included when patients age, location and histology of the germ cell tumor was known. Two double blinded reviewers selected the studies.Results: 141 KS patients with eGCTs were identified. Mean age at presentation was 17.3 years (StDev + − 10.2). In contrast to the extragonadal germ cell tumors in adults, most eGCT in children were mediastinal or in the central nervous system (respectively 90/141; 64% and 23/141; 16% of all tumors). Distribution of histologic subtypes showed that the largest fraction represented a teratoma, mixed-type-non-seminomateus GCT and germinoma, respectively 34/141; 24%, 26/141; 18% and 20/141; 14% of all tumors. Conclusion These data suggest a correlation between primary extragonadal germ cell tumors and Klinefelter syndrome. There appears to be an indication for screening on KS in young patients with an eGCT in the mediastinum. A low threshold for radiologic examinations should be considered to discover eGCT. We emphasize the need for genetic analysis in all cases of a male with a mediastinal germ cell tumor for the underdiagnosed Klinefelter syndrome.

Key Clinical Message22q11.2DS is a significant health problem because of its fairly high incidence. It is relevant to be vigilant regarding the diagnosis of cancer amongst 22q11.2 patients as there might be an increased risk, especially amongst patients with the 22q11.2 distal deletion syndrome.

© Ferrata Storti Foundationand/or peripheral blood (2-29%), is termed either refractory cytopenia with excess blasts (RCEB), 2,3 or divided into refractory anemia with excess blasts (RAEB, bone marrow blasts 5-19% and/or peripheral blasts 2-19%) and refractory anemia with excess blasts in transformation (RAEB-T, bone marrow and/or peripheral blasts 20-29%).4 RCEB harbors a high propensity of transformation to leukemia, mainly MDS-related acute myeloid leukemia (MDR-AML).

Transient erythroblastopenia of childhood is now diagnosed less frequently in our institution than in the last two decades. Although the aetiology remains largely unknown, it is possible that changes in causative environmental factors contribute to making TEC a rare disease. Clinicians need to be aware of TEC in order to prevent unnecessary diagnostic and therapeutic measurements.

Key Clinical MessageGlucose‐6‐phosphate (G6PD) deficiency is the most common human enzyme defect, often presenting with neonatal jaundice and/or acute hemolytic anemia, triggered by oxidizing agents. G6PD deficiency is an X‐linked, hereditary disease, mainly affecting men, but should also be considered in females with an oxidative hemolysis.

BackgroundPediatric germ cell tumors account for approximately 3.5 % of all childhood cancers for children under the age of 15 years. Up to one-third are extragonadal neoplasms. Germ cell tumors are a heterogeneous group of malignant tumors with a wide variety of histopathological features. Yolk sac tumor is the predominant variant in newborns and younger children. We report for the first time, the presentation of a primary yolk sac tumor in the abdominal wall of a small child.Case presentationAn 18-month-old white girl underwent resection of a small, round subcutaneous lump (1.5×1.3×0.8 cm) of the abdominal wall in her right hypochondriac region. The histopathology was compatible with yolk sac tumor. Her alpha-fetoprotein was initially elevated but normalized after the resection. Magnetic resonance imaging of her abdomen was normal. The surgeon decided to observe and follow her alpha-fetoprotein level closely. One year after resection a local recurrence appeared and her alpha-fetoprotein rose to 58 ng/mL. The surgeon performed a wide resection of the lesion with normalization of her alpha-fetoprotein. Follow-up consisted of measuring alpha-fetoprotein, clinical evaluation, and abdominal ultrasound.ConclusionsClinicians should be aware that a yolk sac tumor can present in an unusual extragonadal place, for example in this case it was subcutaneous. In some cases, conservative treatment can be carried out with careful monitoring of the patient and their alpha-fetoprotein.

In this retrospective study 829 positive urine cultures were analyzed. Escherichia coli bacterium was the leading uropathogen (86%). Almost 60% were resistant to ampicillin and first generation cephalosporins, and about 30% of them resistant to amoxicillin-clavulanic acid and trimethoprim-sulfamethoxazole. Almost none of them were resistant to second and third generation cephalosporins, aminoglycosides, ciprofloxacin or nitrofurantoin.