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...

Background: Hydrocortisone replacement for primary adrenal insufficiency (PAI) is targeted to mimic circadian endogenous cortisol secretion. Nevertheless, patients on stable treatment report impairments in quality of life. The brain is a major target area for cortisol considering it high density of glucocorticoid receptors and previous studies in patients treated for Cushing’s disease (CD) suggest that hypothalamic-pituitary-adrenal axis dysregulation is related to cognit...

Background: Early diagnosis of Cushing’s syndrome and initiation of effective treatment are essential to limit long-term morbidity and early mortality. However, diagnosis is often delayed due to the non-specificity of symptoms, or because symptoms are not recognised by physicians, leading to more complex treatment needs and a worsening of patient quality of life. A survey was conducted to better understand the patient experience of Cushing’s syndrome and the true b...

Introduction: The poor prognosis of patients with Cushing’s syndrome due to ectopic ACTH secretion (ECS) requires prompt diagnosis and management of the disease. Objectives: To find clinical and biological differences between ECS and pituitary Cushing’s disease (CD) at diagnosis and to determine whether any of them may be a potential predictor for early suspicion of ECS. Methods: This was a retrospective case-nested study...

Background: Patients with pituitary disease demonstrated Quality of Life (QoL) impairment. From other chronic diseases it is known that partners of patients also report impairments in QoL. Furthermore, it is observed that well-being of patients is associated with the well-being of their partners. To date, no data are available on the well-being of partners of patients with pituitary disease. Therefore, the aim of the present study was to explore well-being of partners of patie...

Background: An increasing number of studies assess quality of life (QoL) in patients with pituitary diseases. At present, available disease-specific QoL questionnaires do not completely cover the patient perspective of QoL. Furthermore, there are no disease-specific questionnaires available which inventories patient’s needs for help for impairments in QoL.Objective: To develop and validate a disease-specific QoL questionnaire for patients with pitui...

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...