Endocrine Abstracts

Introduction: De novo truncating heterozygous mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated to cause Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. We describe, for the first time, a patient with severe short stature secondary to IGF1 deficiency, severe learning difficulties and dysmorphic features due to novel compound heterozygous mutation in <...

Aims: Epidemiological studies have demonstrated that Indian babies born to mothers with gestational diabetes mellitus (GDM) have adverse metabolic profiles. The anthropometric and metabolic profiles in children of women with and without GDM were compared at age 5 years.Methods: Children born to mothers with GDM (CGDM) and without GDM (WGDM) were included in this prospective study. We examined maternal gestational BMI, GD...

MEN1 is a rare hereditary tumor syndrome characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin and non endocrine tumor. Here we will discuss a case of 36 yrs. old male who was referred for high calcium on routine blood test. Subsequent investigations confirmed primary hyperparathyroidism. His serum calcium level was 2.71, PTH 7.5 Pmol/l, and vitamin D 57.4 nmol/l on presentation and was...

Transsphenoidal surgery is the first-line treatment for non-functioning pituitary macroadenomas (NFPAs) causing pressure symptoms. However, the approach to asymptomatic NFPAs is unclear due to the limited data on their natural progression. This study retrospectively analysed data from patients with NFPAs who underwent conservative management for at least six months. The study screened 175 individuals treated at the National Neurosurgery/Pituitary Centre at Beaumont Hospital be...

Background: Klinefelter syndrome (KFS) is the most common chromosomal aberration in men, characterized by an extra-X chromosome (47, XXY). Besides the well-known reproductive defects, KFS is characterized by a 4-fold increase in metabolic syndrome, cardiovascular morbidity and mortality. The exact cause of this constellation remains unclear.Methods: Data from non-mosaic KFS adults and adolescents, evaluated in the endocrine unit of Lausanne University Ho...

Introduction: The chrono-type, intrinsic to each individual, is the tendency of an individual to prefer activities carried out in the morning or evening. The aim of our study was to determine the chronotype of our obese patients.Materials and methods: This is a descriptive cross-sectional study involving obese adults consulting the service of Endocrinology of Sfax, Hedi Chaker University Hospital, during the period extending from December 2022 until Marc...

Introduction: Paragangliomas are chromaffin cell tumors that arise from neuroectodermal cells. Multiple paragangliomas in the same patient are highly uncommon. These tumors have a variable clinical picture, and a very heterogeneous evolution. The pulmonary localization is one of the most frequent, representing 20 to 30% of all neuroendocrine tumors. The silent or aggressive character causes problems in diagnosis, management and prognosis.Case report: We ...

Background: Ectopic Cushing’s syndrome is a paraneoplastic syndrome characterised by adrenocorticotropic hormone (ACTH) secretion from malignant cells. This can in turn result in overstimulation of the adrenal cortex and adrenal cortical hyperplasia. Resulting hypercortisolism can lead to a host of complications for the patient, including hypertension and hypokalaemia. The aim of this cadaver report is to discuss an unusual case of metastatic lung cancer, presenting with ...

Background: Obesity and thyroid neoplasia are common endocrinological diseases in the world and Iraq, and risk factors of this cancer are usually unmodifiable but there are some evidences that obesity is associated with increasing prevalence of many malignancies due to proposed pathophysiological mechanisms. Numerous research assessed the connections between thyroid disease outcomes and obesity, but only a small number took TBSRTC into account. The relationship between obesity...

Context: Polycystic ovary syndrome (PCOS) is a complex endocrine disease that affects women of reproductive age and characterised by biochemical and clinical androgen excess.Aim: To review the available literature on the effectiveness of the various pharmacological interventions on androgen hormones in women with PCOS.Data source: We searched PubMed, MEDLINE, Scopus, Embase, Cochrane library and the Web of Science in April 2020 and...