Genetics of Growth Hormone Deficiency: Insights from a Cohort of 203 Patients.

Context: Growth Hormone (GH) deficiency is a rare disorder characterized by severe short stature, which can result from genetic mutations affecting hypothalamic-pituitary development and function.

Objective: To determine the genetic basis of GH deficiency in a Portuguese cohort.

Design, Setting, Patients: Multicentre cohort of 203 GH-deficient patients (78 with Isolated GH Deficiency (IGHD) and 125 with Combined Pituitary Hormone Deficiency (CPHD)) were analysed.

Arginine-vasopressin deficiency due to long COVID-associated infundibulo-neurohypophysitis.

Long COVID is defined by the occurrence of signs, symptoms, and conditions that develop after COVID-19 and may affect several organs and systems. Arginine-vasopressin deficiency (AVP-D; central diabetes insipidus) is a very rare complication of COVID-19 and SARS-CoV-2 immunization. Case reports, original studies, and reviews on AVP-D and long COVID published until February 2024 were retrieved from PubMed.

Bartter Syndrome Presenting as Arginine-Vasopressin Resistance: A Report of 2 Cases.

BACKGROUND Bartter syndrome is a rare, inherited salt-wasting tubulopathy caused by mutations in 1 of 6 genes that express ion transport channels in the thick ascending limb of nephrons. Excessive prostaglandin E2 and associated hyperreninemic hyperaldosteronism occurs, causing polyhydramnios, polyuria, prematurity, failure to thrive, and characteristic physical features. Hypokalemia, hypochloremic metabolic alkalosis, and, depending on the affected gene, hypercalciuria and nephrocalcinosis are hallmarks of Bartter syndrome.

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.

A case report of multiple endocrine neoplasia type 1 and autoimmune disease: Coincidence or correlation?

Rationale: Multiple Endocrine Neoplasia type 1 (MEN1) is a familial syndrome that results from the disruption of a tumor suppressor protein called MENIN. Its management is challenging, as MEN1 affects different endocrine tissues and predisposes to both benign and malignant tumors. MENIN-deficient cells have recently been recognized to play a role in triggering autoimmunity.

Arrested Puberty in an Adolescent Male with Anorexia Nervosa Successfully Resumed with Multidisciplinary Care.

The normal development of puberty depends on the specific pulsatility of gonadorelin, which is finely regulated by genetic and environmental factors. In the published literature, eating disorders figure as a cause of pubertal delay/arrest in females but are rarely considered in males with disordered puberty. A 16.

Orthorexia nervosa and comorbid depression successfully treated with mirtazapine: a case report.

Orthorexia nervosa (ON) is a recently proposed eating disordered behaviour characterized by an obsessional or exaggerated fixation on healthy eating. The published literature is scarce regarding its classification, clinical presentation, management and long-term outcomes. Herein, we present the clinical and follow-up findings of an 18-year-old woman with ON comorbid with depression, successfully treated with mirtazapine.

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.

A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Pheochromocytoma is very rare at a pediatric age, and when it is present, the probability of a causative genetic mutation is high. Due to high costs of genetic surveys and an increasing number of genes associated with pheochromocytoma, a sequential genetic analysis driven by clinical and biochemical phenotypes is advised. The published literature regarding the genetic landscape of pediatric pheochromocytoma is scarce, which may hinder the establishment of genotype-phenotype correlations and the selection of appropriate genetic testing at this population.

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.

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.