Endocrine Abstracts

IntroductionAmicrobial skin pustulosis is one of the exceptional manifestations of hypoparathyroidism. We report 2 observations of a Fahr syndrome secondary to hypoparathyroidism revealed by generalized pustulosis.Observations 124 year old woman, with no history of thyroid surgery, The patient was admitted for generalized covering more than 90% of the body surface. Biology objected to hypocalcemia at 57 mg/l,...

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: Hyperpigmentation is a clinical sign that can be associated with different endocrine disorders. It is commonly seen in Addison’s disease and has rarely been reported in Graves’ disease. The exact physio pathological mechanism of this sign is not well established in hyperthyroidism. We describe two cases of Graves’ disease accompanied by diffuse hyperpigmentation.Case report: Case 1 was a 63-year-old female ad...

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: 11-Beta-hydroxylase deficiency (11β-OHD) is the second most common cause of congenital adrenal hyperplasia. It leads to the accumulation of steroids precursors prior to the enzyme defect, notably 11-deoxycorticosterone (DOC), leading therefore to low renin hypertension and hypokalemia. Hence, patients with 11β-OHD are reportedly protected from adrenal crisis. Here, we report a case of a male with 11β-OHD presenting with acute adrenal insufficiency....

Introduction: Pituitary neuroendocrine tumors (PitNET) represent 15.5% of primary brain tumors and they can be clinically functioning or non-functioning. Although they are mostly benign, PitNET may be invasive in 30-45% of cases and aggressive in at least 15%. Here, we report the case of a patient who presented a multiple and rapid recurrence of a non-functional pituitary macroadenoma.Observation: A 42-year-old man was admitted initially for headaches, m...

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: Thyroid-associated orbitopathy is an autoimmune disease of the retroocular tissues commonly associated with Graves’ disease (GD) and rarely reported in Hashimoto’s thyroiditis (HT). GD and HT are autoimmune thyroid disease which are sometimes hard to distinguish from one another and their association in one person is rarely described. Here, we report a case of an exacerbation of thyroid-associated orbitopathy in a patient with GD following a SARS-CoV-2 ...

Introduction: Biermer’s disease is a chronic inflammatory disease due to antibodies targeting parietal cells and intrinsic factor compromising vitamin B12 absorption leading to pernicious anemia, and gastric acid secretion leading to achlorhydria. Neuroendocrine tumors are rare neoplasms that have been reported during the evolution of chronic gastritis. We here describe a case of a type 1 gastric neuroendocrine tumor discovered alongside with Biermer’s disease.<p...

Introduction: Grave’s disease is an autoimmune disorder and is considered the most common cause of hyperthyroidism. Its treatment options include medical therapy, radioactive iodine (RAI), and surgery. RAI is commonly employed for Grave’s disease regarding its efficiency and safety. Definitive hypothyroidism is the main goal of RAI and is typically achieved within the first 3 to 6 months of therapy. Transient hypothyroidism and recurrence of hyperthyroidism after RAI...