Endocrine Abstracts

J was born at term (2.62 kg). She presented aged six months with severe faltering growth, (weight 5.1 kg, length 57.3 cm, OFC 39.0 cm). Investigations showed elevated prolactin (1838 mIU/l) and undetectable IGF1 but were otherwise normal. Her karyotype was 46XX. A brain MRI was normal. By 11 months of age she had evident developmental delay and dysmorphic features (triangular face; hypertelorism; synophrys; broad nasal root; short nose with rounded tip; carp like mouth; short ...

Introduction: Cornelia de Lange Syndrome (CDLS) a relatively uncommon genetic disorder diagnosed mainly by clinical features: distinctive facial features, developmental delay, hirsutism, mental retardation and structural abnormalities. Most cases are due to spontaneous mutations (NIPBL on chromosome 5, SMC1A on X chromosome, and SMC3 on chromosome 10). Short stature in CDLS is due to GH deficiency and resistance.Case report: We present a 9-year-old girl,...

Background: Congenital hypogonadotropic hypogonadism (CHH), a clinically and genetic heterogenous sydrome, is caused by > 40 known loci whose mutations share the ability to cause defects in the ontogeny of the GnRH neuron network leading to absent/incomplete puberty and infertility. Cornelia de Lange Syndrome (CdLS) is similarly heterogenous disorder (distinctive facies, psychomotor delay, growth retardation and upper limb malformation) caused by mutations in 7 different g...

Introduction: Polycystic ovary syndrome affects 10% of women and comes with a 2-3fold increased risk of type 2 diabetes, hypertension, and fatty liver disease. Androgen excess, a cardinal feature of PCOS, has been implicated as a major contributor to metabolic risk. Adrenal-derived 11-oxygenated androgens represent an important component of PCOS-related androgen excess and are preferentially activated in adipose tissue. We aimed to identify PCOS sub-types with distinct androge...

Introduction: Polycystic ovary syndrome (PCOS) affects 10% of women and is associated with a 2-3fold risk of type 2 diabetes (T2D), hypertension, fatty liver and cardiovascular disease. Androgen excess has been implicated as a major contributor to metabolic risk in PCOS. We aimed to identify PCOS sub-types with distinct androgen profiles and compare their cardiometabolic risk.Methods: We cross-sectionally studied 488 tre...

Background: Pancreatic neuroendocrine neoplasms (NENs) are rare tumors which can sometimes be diagnosed based on symptoms of hormone excess, but, more often, they are asymptomatic, and patients frequently present with metastatic disease. While they can occur in hereditary cancer syndromes such as multiple endocrine neoplasia type 1 (MEN1), von Hippel-Lindau (VHL), or neurofibromatosis (NF1), the majority of pancreatic NENs are sporadicCase report: We rep...

Introduction: Glucocorticoids are hormones that are used extensively in medicine for their anti-inflammatory and immunomodulatory effects. New onset diabetes mellitus is a frequent complication and is the result of an activation of glucocorticoid receptors which stimulate hepatic gluconeogenesis, adipose tissue lipolysis and increase the insulin resistance.Case presentation: We present a case of a 49-year-old Ukrainian female who in 2015 started having h...

Objective: The occurrence of cardiovascular disease (CVD) in patients suffering from type 2 diabetes is a widely discussed issue, less so in those with type 1 (T1DM). The purpose of this study was to evaluate the frequency of these complications as well as certain risk factors that they are associated with.Material and methods: We conducted a retrospective observational study by analyzing data from the observation charts of 106 patients evaluated in our ...

Mammalian Leydig cells produce the majority of the systemic levels of the primary male sex hormone testosterone. Testosterone plays a crucial role during development of male reproductive tissues, onset of puberty, and maintaining health state. The final step of testosterone synthesis is catalyzed by 17β-hydroxysteroid dehydrogenase 3 (17β-HSD3). Disruption of testosterone synthesis is associated with many diseases. Due to the lack of a human Leydig cell line, two dif...

Introduction: We report a case of severe osteoporosis with incident fragility fractures during antiresorbtive therapy in the presence of amiodarone induced hypothyroidism.Case report: A 76 year old female was admitted in our department for the evaluation of antiresorbtive therapy in the context of a recent rib fracture after coughing. Severe osteoporosis (lumbar T-score: −2.8DS, femoral neck T-score: −2.9DS with multiple fra...