Endocrine Abstracts

Introduction and aim: Type 1 diabetes mellitus (T1DM) presents as a challenge for both health care providers and patients looking to avoid chronic complications and early mortality. Clinical features of patients with long duration T1DM are still poorly studied and debated. The aim of our work was to describe the clinical features of subjects with long duration T1DM.Methods: Cross-sectional study of patients with T1DM with more than 40 years of evolution ...

The biggest achievement of bariatric surgery was to demonstrate that obesity co-morbidity improve or even reverse with long-term weight control. This evidence was achieved with the Swedish Obesity Study for mortality and diabetes incidence.Diabetes resolution rates range from 55 to 96% depending on the surgical procedure and length of follow-up. Diabetes improvement or resolution almost reaching the 100%. The type of surgery seems to play a role in diabe...

Background: The lack of circadian rhythm is a marker of Cushing’s syndrome (CS). Therefore, salivary cortisol rhythm has been suggested for studies on the hypothalamic–pituitary–adrenal (HPA) axis. Late-night salivary cortisol has been used recently by many centers as a first line diagnostic test for CS, yet its accuracy is still on debate.Aim: To evaluated the performance of morning and late night salivary cortisol in patients with CS and...

Backgroud: Primary hyperparathyroidism is the most common cause of hypercalcemia, which is associated with an increased frequency of hypertension. However, there are no data on the prevalence of primary hyperparathyroidism in patients who present with hypertension.Clinical case: We present the case of a 40-year-old woman with a history of hypertension for ten years. In 2017 she was referred for evaluation of hypercalcemia. The patient denied any symptoms...

Introduction: Hypocalcaemia is a rare and potentially reversible cause of cardiomyopathy. Restoration to normal serum calcium levels usually leads to rapid improvement of cardiac function.Case report: A 42-year-old woman with a history of total thyroidectomy, due to large nodular goiter in 2016, and acute pos-operative hypoparathyroidism, assumed to be transient, with no supplementation since early 2017. In September 2018 she was admitted due to acute ca...

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...

Although, diabetes type I patients in Portugal have complete and free access to HbA1c management (via multiple daily injections) only a few percentage has been provided an insulin pump – priority is given to children and women in fertile age trying to get pregnant. By the end of 2014, 1.150 insulin pumps had already been provided by the National Program of Insulin Pumps, but at least 3.000 patients with indication for insulin pump use were in waiting list. HbA1c pre-pump ...