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Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literature.
J Pediatr Endocrinol Metab
January 2025
Pediatrics, Fondazione IRCCS San Gerardo Dei Tintori, Monza, Italy.
Objectives: Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency.
View Article and Find Full Text PDFCONGENITAL HYPOTHYROIDISM SCREENING RESULTS IN THE TURKISH PROVINCE OF ADIYAMAN IN 2015-2020.
Acta Endocrinol (Buchar)
January 2025
Adıyaman Training and Research Hospital, Department of Pediatric Endocrinology, Adıyaman, Turkey.
Context: Congenital hypothyroidism (CH) is one of the most common preventable causes of intellectual disability, and can be diagnosed in the early period through neonatal screening programs.
Objective: The purpose of this study was to determine the prevalence of CH and recall rates in the province of Adıyaman.
Design: This retrospective study evaluated the data of newborn screening program in Adıyaman province between January 2015 and December 2020.
Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. The 46, XY DSD group is vast and includes various conditions caused by genetic variants, hormonal imbalances, or abnormal sensitivity to testicular hormones, leading to varying degrees of under-virilization. A 19-year-old phenotypically normal female from Kakamega, Kenya, presented with primary amenorrhea.
View Article and Find Full Text PDFBaseline Clinical Factors Associated with Cessation of Growth Hormone Therapy in Patients with Severe Growth Hormone Deficiency - Real World Evidence.
Int J Endocrinol Metab
July 2024
Allam Diabetes Centre, Hull University Teaching Hospitals NHS Foundation Trust, Hull, UK.
Background: Growth hormone replacement is indicated in adults with severe growth hormone (GH) deficiency, adult growth hormone deficiency assessment (AGHDA) score of at least 11 and are receiving treatment for other pituitary hormone deficiencies. There are no data looking at the cessation of GH replacement in adult patients with severe GH deficiency and the factors that predict the likelihood of patients continuing or stopping growth hormone replacement.
Methods: We audited patients on the GH register between January 2006 and January 2023 in Hull University Teaching Hospitals NHS foundation Trust, a UK tertiary hospital.
Successful Treatment of Severe Ectopic ACTH-Dependent Cushing Syndrome Complicated by Hypocalcemia With Osilodrostat.
JCEM Case Rep
February 2025
Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Cushing syndrome due to ectopic adrenocorticotropic hormone (ACTH) secretion (EAS) is rare and may progress rapidly, making treatment very challenging. We report a 27-year-old woman with metastatic neuroendocrine tumor (NET) who presented with sudden onset and rapidly progressing fatigue, muscle weakness, and weight gain. Laboratory findings confirmed severe EAS with new onset hypocalcemia, hypokalemia, and hyperglycemia.
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