Endocrine Abstracts

Introduction: Homozygous familial hypercholesterolemia (HoFH) is a rare inherited autosomal dominant disease (1/20000 Individuals) involving germline mutations in the LDL metabolism pathways (LDL receptor/PCSK9/APOB/lDLRAP) that results in very high levels of LDLc, usually >10 mmol/l, and premature cardiovascular disease. The EAS guidelines recommend the use of PCSK9 inhibitors (PCSK9i) as a third line therapy in HoFH, however they report no precision regarding the effect ...

Significant hyperglycaemia suppresses beta cell replication and cell cycle progression. Acute beta cell failure is caused by several mechanisms involving oxidative and endoplasmic stress leading to DNA damage response (collectively termed glucotoxicity) (1). Short-term glycaemic control unmasks the regenerative potential of beta cells, leading to recovery and potentially weaning off Insulin therapy (1, 2, 3). We present a case of a 62-year-old woman with ...

Background and aims: Endocrine osteoporosis should be uncommon in contemporary times due to improved early diagnosis of endocrinopathies. Our objective is to analyze the osteodensitometric profiles of patients under endocrinopathy care.Methods: A cross-sectional study of patients followed for endocrinopathies at the Endocrinology Department of the Hassan II University Hospital of Fez, spanning from the beginning of January 2016 to January 2022. Exclusion...

Thyroid storm is rare life-threatening clinical manifestation of endocrine dysfunction originating from excess level of thyroid hormone leading to hypermetabolic state with an incidence of 0.57-0.76/1000,000. The increase demand of metabolic activity subsequently induces, palpitations, dyspnoea, exercise intolerance and congestive heart failure. Most common cardiovascular manifestation of thyroid storm is tachycardia and atrial fibrillation occurs in up to 15% of patients. In ...

Background: Autoimmune polyglandular syndrome type 2 is an autoimmune disorder that affects many hormone-producing (endocrine) glands. It is characterized by the presence of Addison’s disease along with autoimmune thyroid disease and/or type 1 diabetes. The initial presentation can be varied but some patient maybe present with subclinical hypothyroidism and later develop Addisonian crisis. The pathogenesis of Autoimmune polyglandular syndrome type 2 remains unclear, altho...

Introduction: Pituitary tumours one of the most commonly occurring intracranial neoplasms accounting for up to the 15 % of all intracranial neoplasms. Pituitary tumours are often associated with overproduction of hormones or, when they are large, they cause mass effect on surrounding neural structures which are adjacent to their typical location in the Sella turcica. Due to their multifaceted effects pituitary tumours may cause cognitive impairment due hormonal deficiency or m...

Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder involving hypogonadism manifested by cryptorchidism, micropenis and/or delayed pubertyObservation: We report the case of a 13 year old child, who was consulted for obesity and whose physical examination showed major signs of SBB: global obesity, polydactyly, learning difficulties and visual disorders. Genital examination revealed a 1 cm genital tubercle with a single...

Background: Tirzepatide is a GLP-1/GIP co-agonist treatment for type 2 diabetes. Participants in the SURPASS trials were GLP-1RA naïve, but in clinical practice many patients are switched from other GLP-1RAs.Aims: To explore effects of prior GLP-1RA treatment on tirzepatide therapy outcomes.Methods: Review of clinical data from an outpatient Diabetes centre. Adults with 6 months follow-up post tirzepatide initiation were inclu...

Introduction: B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities and congenital heart defects. We describe for the first time, a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism and conge...

Introduction Background: Over the last decade, scientific attention has been drawn to the potential role of Growth hormone (GH) and Insulin Like Growth Factor-1 (IGF-1) in the pathogenesis and progression of T2DM. Both hormones are interrelated but exert variable effect on glucose homeostasis. While GH increases blood glucose level, IGF-1 maintain insulin secretion and enhance insulin sensitivity.Methods: A cross sectional study conducted in the National...