Results 51 to 60 of about 208,465 (197)
The isl2a transcription factor regulates pituitary development in zebrafish
Frontiers in Endocrinology, 2023 BackgroundISL LIM homeobox 2, also known as insulin gene enhancer protein ISL-2 (ISL2), is a transcription factor gene that participates in a wide range of developmental events.
Chen-Yan Yan +15 more
doaj +1 more source
Clinical Endocrinology, EarlyView.ABSTRACT Objective To evaluate methods used to assess individual iodine status in infants under 2 years of age and to examine their clinical utility in relation to thyroid dysfunction across different clinical contexts. Design The protocol was registered on PROSPERO and followed PRISMA guidelines.
Sabrina Bilston‐John +3 more
wiley +1 more source
Congenital thyroid hemiagenesis with multinodular goiter
Acta Radiologica Short Reports, 2014 Thyroid hemiagenesis is a rare form of thyroid dysgenesis characterized by an absence of half of the thyroid gland. Developmental hemi-thyroid anomalies can result from either an abnormal descent or an agenesis of one lobe of the thyroid gland. We report
SK Bhartiya, A Verma, S Basu, VK Shukla
doaj +1 more source
Diabetic Medicine, EarlyView.Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang +5 more
wiley +1 more source
Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder
Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2161-2165, October 2026.ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi +6 more
wiley +1 more source
Congenital hypothyroidism with seizures: a case report
Journal of Pediatric and Neonatal Individualized Medicine, 2016 Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency, present at birth. It is seen in 1:4,000 births and is caused by an anatomical defect, known as thyroid dysgenesis (underdevelopment or unusual location of the thyroid gland), by ...
Ann Vivian Sproul, Yogavijayan Kandasamy
doaj +1 more source
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in gene [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2019 Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and infants with an incidence of one in 2,000 to one in 4,000 newborns. Primary CH can be caused by thyroid dysgenesis and thyroid dyshormonogenesis.
Seung Heo, Ja-Hyun Jang, Jeesuk Yu
doaj +1 more source
Jacobs Syndrome Presenting With Delayed Puberty and Central Hypogonadism: A Rare Case Report
Clinical Case Reports, Volume 14, Issue 9, September 2026.ABSTRACT In some rare instances, patients with 47,XYY syndrome can be short in height, accompanied by hypogonadism without the characteristic tall stature. In cases where there is delayed puberty and unusual growth pattern, a complete endocrine work‐up, including GnRH and hCG stimulation tests, along with chromosome studies, is vital.
Muhammad Hassaan Javaid +4 more
wiley +1 more source
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis
, 2021 Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and results in mental retardation if untreated. Eighty-five percent of CH cases are due to disruptions in thyroid organogenesis and are mostly sporadic, but about 2% of thyroid
Boelaert, Kristien +22 more
core +2 more sources
Management of Azoospermia: A Systematic Approach
The Obstetrician &Gynaecologist, Volume 28, Issue 3, Page 155-167, July 2026.ABSTRACT Key Content Work‐up of azoospermic men includes a detailed history, physical examination and investigations to find the underlying cause. Causes and management of azoospermia (pre‐testicular, testicular and post‐testicular) with case presentations.
Naimah Raza +3 more
wiley +1 more source