A Common Variant in the Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: A Case-Control Study.

The majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the (rs2359536), (rs10763170) and (rs17083838) loci were previously associated with sporadic pituitary adenomas in the Han Chinese population, but these findings have not yet been replicated in any other population. The aim of this case-control study was to assess if these variants are associated with susceptibility to sporadic pituitary adenomas in the Portuguese population.

A Case of Paraganglioma-Induced Adrenergic Shock.

Paragangliomas (PGLs) are rare neuroendocrine tumors that, when functional, can release excessive catecholamines, causing health conditions ranging from asymptomatic arterial hypertension to life-threatening arrhythmias and cardiogenic shock. Early diagnosis of functional PGLs is extremely important as timely treatment can be curative and prevent vascular sequelae. We describe the clinical case of a 30-year-old woman with arterial hypertension under study, who was presented to the emergency department with a hypertensive crisis that progressed to adrenergic shock, in the context of a functional PGL.

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel , and Mutations.

Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes, which is characterized by early onset, autosomal dominant inheritance, and absence of insulin dependence. The most frequent subtypes are due to mutations of the (MODY 2), (MODY 3), and (MODY 1) genes. We undertook the first multicenter genetic study of MODY in the Portuguese population.

Delirium and Psychotic Symptoms Associated with Hyperglycemia in a Patient with Poorly controlled Type 2 Diabetes Mellitus.

Delirium, acute confusional states, and secondary psychosis have been associated with several medical conditions, including endocrine disorders. In the context of diabetes mellitus (DM), it has been mostly related to hypoglycemia and rarely occurs in association with hyperglycemia, outside of the context of a hyperglycemic hyperosmolar state or diabetic ketoacidosis. Here, we describe a case of delirium and psychotic symptoms associated with hyperglycemia in a patient with poorly controlled Type 2 DM as an attempt to alert clinicians to this rare association.

Monomorphous Plurihormonal Pituitary Adenoma of Pit-1 Lineage in a Giant Adolescent with Central Hyperthyroidism.

Thyrotropin (TSH)-secreting pituitary adenomas are exceedingly rare at the pediatric age and no cases of co-secretion with other pituitary hormones in these tumors have been described in this age range. We present a case of a monomorphous plurihormonal pituitary adenoma that co-secreted TSH and GH in a pediatric patient. A 13-year-old male presented with increasing height velocity (17.

Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform.

Objective: To determine the prevalence of fibroblast growth factor receptor 1 (FGFR1) mutations and their predicted functional consequences in patients with idiopathic hypogonadotropic hypogonadism (IHH).

Design: Cross-sectional study.

Setting: Multicentric.

X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation.

X-linked adrenal hypoplasia congenita typically manifests as primary adrenal insufficiency in the newborn age and hypogonadotropic hypogonadism in males, being caused by mutations in NR0B1 gene. We present the clinical and follow-up findings of two kindreds with NR0B1 mutations. The proband of kindred A had a diagnosis of primary adrenal insufficiency when he was a newborn.

Adrenocortical oncocytoma presenting as Cushing's syndrome: an additional report of a paediatric case.

Oncocytomas are tumours predominantly or exclusively composed of oncocytes, cells with granular and eosinophilic cytoplasm filled with mitochondria. Although they can occur in every organ, they are rare in adrenal glands, and in paediatric patients they are even rarer, with only three case reports previously published. We present a preschool child developing Cushing's syndrome due to an adrenocortical oncocytoma, which was confirmed immunohistochemically with antibodies to the mitochondrial electron complex 2.

Putting an eye on cytological specimens: an audit of the clinical impact of thyroid fine-needle aspiration in different health care settings.

There is published evidence showing less cost-benefit approaches in the evaluation of thyroid nodules. We performed an institutional audit of the cytologic diagnosis of thyroid fine-needle aspiration (FNA) in an attempt to perceive the clinical impact of this technique on the management of thyroid nodules and to compare it in two different types of health care: Primary Care Medicine and Endocrinology. We performed a retrospective analysis to the electronic records of patients referred from General Practitioners (GP) and Endocrinologists (E) for thyroid FNA between 2010 and 2012.

Malignant paraganglioma presenting with hemorrhagic stroke in a child.

Sympathetic paragangliomas are rare catecholamine-secreting tumors of extra-adrenal origin, and their diagnosis in children is even more infrequent. They usually manifest as hypertension, palpitations, headache, sweating, and pallor. Malignant paragangliomas are identified by the presence of metastasis.

Thyroid tuberculosis with abnormal thyroid function--case report and review of the literature.

Objective: To report an extremely rare case of thyroid tuberculosis (TT) with abnormal thyroid function and to review the related literature.

Methods: We present the patient's history, clinical findings, laboratory test results, imaging examinations, cytological data, management, and follow-up. In addition, we perform a review of the previously published cases of TT and give special attention to those with hypothyroidism.