Endocrine Abstracts

Intracranial germinomas are malignant neoplasms which are supposed to arise from primitive germ cells failed to migrate to the genital crest during embryonic development. Most of them are located in the intra-suprasellar region and may cause anterior and particularly posterior pituitary hormone deficits. Early establishment of the histological diagnosis is important for optimum treatment planning and a successful outcome. Intracranial germinomas are radiosensitive and potentia...

IntroductionTurner syndrome(TS) is characterized by complete/partial monosomy or by a structural defect in one of X chromosomes. Despite clinical hallmarks of short stature(SS) and gonadal dysgenesis(GD), phenotype is variable and related to underlying chromosomal pattern. Loss of the distal segment of the short arm of x-chromosome(Xp-), including haploinsufficiency of short stature homeobox-containing (SHOX) gene, is thought to be the main factor for gr...

Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant inherited disease with a high degree of penetrance. The three most common locations of tumors are the parathyroid glands, the gastro-duodenum pancreas and/or the anterior pituitary gland. The gene involved in this disease is MEN 1, a tumor suppressor gene located on chromosome 11q13. The objective of our work was to describe the genotype of patients with MEN 1 born in Argentina.Subjects ...

Background: Adrenal insufficiency (AI) is a rare condition affecting children, potentially life-threatening. Autoimmune adrenalitis accounts for 15% of all cases of primary adrenal insufficiency in pediatric age. Most symptoms are usually unspecific, making the diagnosis quite challenging.Objective: The aim of the study was to describe clinical presentation, biochemical abnormalities, treatment and the clinical course of patients with autoimmune AI.<...

Introduction: Hypoparathyroidism is one of the most common complications following thyroidectomy and it is associated with significant morbidity. It usually occurs within the first 48 h after thyroid surgery, however hypocalcemia symptoms may only begin up to 64 h after surgery. Therefore, early detection of hypoparathyroidism is essential to a secure postsurgery discharge.Objectives: We aimed to evaluate the potential risk factors for postsurgical hypop...

Introduction: Prolactin is involved in lactation and reproduction. Endocrinologists should be familiar with physiological effects of prolactin in women, particular in key moments: breastfeeding and menopause. We aimed to report two females with unusual prolactin-related challenges: the first case corresponds to a postpartum woman with normoprolactinemia and breastfeeding problems; the second case concerns a menopausal woman with a prolactinoma who developed hot flashes followi...

Most differential diagnoses of unilateral adrenal lesions include non-functional adenoma, adrenocortical carcinoma or pheochromocytoma. Primary adrenal lymphoma(PAL) is an extremely uncommon type of primary extranodal non-Hodgkin’s lymphoma(<1%). Most cases are bilateral (~75%), being unilateral PAL scarcely reported. The apparent unilateral involvement of this entity at presentation, in the CT scan/MRI may difficult the diagnosis, delaying the start of chemotherapy. ...

Introduction: Familial neurohypophyseal diabetes insipidus (FNDI) is a rare form of central diabetes insipidus (CDI) characterized by childhood-onset progressive polydipsia and polyuria due to mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene.Case description: Two male siblings were referred at 1 month of age to exclude CDI owing to a family history of CDI in the father and paternal grandfather. The proband was the fa...

Thyroid nodules are a common clinical finding, with an estimated prevalence of palpable thyroid nodules to be approximately 5% in women and 1% in men. The clinical importance of thyroid nodules rests with the need to exclude thyroid cancer. The prevalence of malignancy reported for palpable thyroid lesions ranges from 5.0% to 6.5%. Patients with benign thyroid nodules are unlikely to suffer morbidity or mortality due to thyroid cancer. A 53 aged man presented with a 20-year hi...

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...