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: Moyamoya disease is a rare angiopathy characterized by a progressive stenosis of the intracranial internal carotid arteries (ICA). First described in 1957, its pathophysiological mechanisms are still not well understood. Its association with various systemic diseases is termed moyamoya syndromeObservation: A 21-year-old female patient, with a family history of hypothyroidism, was admitted initially with stroke. The clinical examination reve...

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 : Primary adrenal lymphomas (PAL) are extremely rare and constitute 0.5% of all adrenal tumors. The number of cases described is approximately 70 cases [1] and It is bilaterally manifested in approximately 70% of cases [2]. The diagnosis is made on histological features, as there is no specific symptoms. Treatement is based on chemotherapy and prognosis is usually poor. We report two cases of bilateral PAL.Cases: First case: A 63-year-old wo...

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...