Endocrine Abstracts

Introduction: The adrenal incidentaloma is an asymptomatic tumor measuring at least one cm, discovered incidentally during a medical imaging examination. The adrenal incidentaloma continues to grow with technological advances and improved radiological examinations. Any adrenal incidentaloma involves the search for a secretion or malignant character. The objective of our study is to study the clinical, biological and etiological aspects of adrenal incidentalomas.<p class="a...

Introduction: Hamartomas are benign tumors that occur in many different parts of the body. Brain locations of hamartoma are rare but still reported in few cases such as the tuber cinereum (TC) location. Children with hypothalamic hamartomas develop precocious puberty generally associated with gelastic seizures. However, TC hamartomas do not necessarily induce clinical symptoms. Amenorrhea has never been reported as a revealing symptom of TC hamartomas. Here we describe an atyp...

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...