Endocrine Abstracts

Introduction: Chromosomal abnormality 47, XYY, despite being present in approximately 1 in 1000 newborn boys, remains less known phenotypically and more than 85% of men are never diagnosed. Males with 47, XYY syndrome are described to be phenotypically normal. They present often a developmental delay, behavioral difficulties and learning disabilities that may be associated with accelerated growth rate and taller stature in adulthood. Endocrine disorders, especially pubertal de...

Introduction: Klinefelter syndrome is the most prevalent male chromosomal disorder, characterized by the presence of additional X chromosomes. Most males with Klinefelter syndrome have 47, XXY and normal intelligence. Intellectual disability occurs in males with Klinefelter syndrome variants, who have a higher number of X chromosomes. Here we report a rare case of a 49, XXXXY syndrome revealed by intellectual deficit and pubertal delay.Observation: An 18...

Introduction: Niemann Pick disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in acid sphingomyelinase. Usually discovered in childhood, it can affect liver, spleen and pulmonary function. Here, we report the case of a Niemann Pick type B disease in an adult associated with bilateral adrenal incidentalomas.Observation: A 45-year-old male patient was found to have bilateral adrenal incidentalomas associated with hepato...

Background: Medullary thyroid carcinoma (MTC) is a rare neuroendocine tumor that that may be associated with paraneoplastic ACTH-dependent cushing syndrome. There are few case reports on the coexistence of medullary thyroid carcinoma and adrenal adenoma with ACTH-independent Cushing syndrome.Case presentation: We report the case of a 42-year-old woman, with no family history of endocrine malignancy or endocrine disorders. She underwent total thyroidectom...