Endocrine Abstracts

Introduction: Sheehan’s syndrome is a rare cause of hypopituitarism secondary to an intra or postpartum severe bleeding. Manifestations are most often caused by deficiencies of hormones of anterior pituitary; involvement of posterior pituitary is rarely described.Case report: We report a case of a 45 years old hypertensive, multipara, premenopausal woman, who underwent fertilization by oocyte donation, that resulted in twin pregnancy. Preterm vagina...

-Diana Borges Duarte and Francisca Puga are joint first authors and contributed equallyBackground: As therapeutic options improve for Cushing’s disease (CD), most patients can now achieve control or cure of hypercortisolism. However, persistent complaints are often reported. Evaluation of health-related quality of life (HR-QoL) can highlight impairments beyond the stricter clinical aspects. Our aim was to evaluate HR-QoL with a specific focus on men...

Background: Elevated serum retinol binding protein 4 (RBP4) levels were previously described in insulin-resistance states. Recently it was shown that RBP4 contributes, at least partly, to the pathogenesis of insulin resistance in spontaneously hypertensive rats (SHR), but the effects of exercise training and time-course of changes after detraining on RBP4 levels have not yet been explored.Aims: To examine the effects of exercise training and short-term d...

Introduction: Neonatal diabetes is a rare condition diagnosed within the first months of life. Activating mutation of KCNJ11, the gene encoding the Ki6.2 subunit of the ATP-sensitive potassium channel, is the most common cause of permanent neonatal diabetes, and ~20% of patients have neurological features.Patients with the severe neurological phenotype exhibit developmental delay, motor weakness, and epilepsy in addition to diabetes (DEND syndrome). Inte...

Introduction: Magmas encodes for an integral constituent of the TIM23 translocase complex located in the mitochondrial inner membrane that drives proteins from the intermembrane space into the mitochondrial matrix by functionally interacting with Tim14. We previously demonstrated that Magmas silencing is able to sensitize ACTH-secreting mouse pituitary adenoma cells to pro-apoptotic stimuli, reduce DNA synthesis, accumulate cells in G0/G1 phase with concomitant decrease in S p...

Introduction: Typical and Atypical bronchial carcinoids (TBC and ABC) are rare neuroendocrine neoplasms (NEN). TBC are low grade and well-differentiated NEN often with indolent clinical behavior, slow growth, rare extra-thoracic metastases, and with a long survival following surgical resection. Conversely, ABC have often a worse prognosis with a greater tendency to metastasize and recur. A better understanding of TBC and ABC genetic background would help in evaluating prognosi...

Introduction: Recent advance of genetic testing has contributed to the diagnosis of hereditary pheochromocytoma and paraganglioma (PPGL). Germline mutations in MYC associated factor X(MAX) are responsible for 1.1% of these PPGL; the median age at onset is 33 years and no reliable penetrance estimation is available for MAX-carriers. The authors present the case of a synchronous bilateral pheochromocytoma that prompted the discovery of a proband of MAX mutation and three other r...

Introduction: Turner syndrome is one of the most common human chromosomopathy and represents an important cause of short stature and ovarian insufficiency. It is caused by total or partial loss of X-chromosome and its prevalence is about 1 in 2000–2500 live female births.Objectives: To review the patients with TS followed in a Paediatric Endocrinology Unit since 1999.Methods: A retrospective study regarding diagnosis, course, ...

Idiopathic congenital hypogonadotropic hypogonadism (CHH) is a rare reproductive disorder that is primarily caused by a gonadotrophin-realising hormone (GnRH) deficiency. When CHH is associated with hyposmia or anosmia is designated by Kallmann Syndrome (KS). This syndrome is a genetic disorder with significant genetic heterogeneity that may present as a sporadic or familial case, following autosomal dominant, autosomal recessive, or X – linked recessive modes of inherita...

Introduction: Hypopituitarism is a clinical syndrome of deficiency in growth hormone (GHD) production, which can occur isolated or associated with others pituitary defects. GHD has an incidence of 1:4000 to 1:10 000. It may be idiopathic, congenital or acquired.Purpose: Characterize the paediatric population with GHD followed at the Paediatric Endocrinology Unit of our centre and compare the clinical presentation and treatment response of the patients wi...