Results 81 to 90 of about 265,208 (194)

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Hypopituitarism: A Very Rare Cause of Dilated Cardiomyopathy in a Child

, 2018
Dilated cardiomyopathy (DCMP), the leading type of cardiomyopathy in children, can be either a primary disease or secondary to a host of pathologies. Endocrine diseases are an extremely rare cause of DCMP in children.
Anirban Mandal, Amitabh Singh
core   +1 more source

Next‐Generation Strategies for Neural Repair and Regeneration: Neural Organoid Transplantation in the CNS

Cell Proliferation, Volume 59, Issue 6, June 2026.
Neurological disorders are hard to treat. Stem cell‐derived neural organoids enable research, and their transplantation aids CNS therapy, with this article reviewing relevant advances, challenges and prospects. ABSTRACT Neurological disorders are often devastating and notoriously difficult to repair, creating an urgent need for novel research models ...
Yutong Wang, Jinrui Li, Xingjia Mao, Wanyu Wang, Yansong Li, Xuefei Hu, Jinjie Zhong, Fengdong Zhao, Linlin Wang   +8 more
wiley   +1 more source

Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation

, 1998
peer reviewedA 20-month-old boy presented with severe congenital growth hormone, thyrotropin, and prolactin deficiencies resulting from a de novo mutation of the PIT-1 gene. This form of congenital hypopituitarism should be suspected if pituitary anatomy
Van Vliet, G., Ward, L., Martial, Joseph, Decarie, J. C., Collu, R., Lecocq, P., Chavez, M., Huot, C.   +7 more
core   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, Volume 293, Issue 12, Page 3502-3527, June 2026.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Severe neonatal cholestasis in HNF1β deficiency: a case report and literature review

Frontiers in Pediatrics
Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid diagnosis and a specific treatment.
Chiara Gagliano, Olga Burattini, Luigi Paradisi, Sarah Recchione, Lucia Santoro, Laura Caponi, Annamaria Ciaschini, Maria Elena Lionetti, Simona Gatti   +8 more
doaj   +1 more source

Representation, medical examination, and the effectiveness of underwriting: Evidence from a life and health insurance company

Risk Management and Insurance Review, Volume 29, Issue 2, Page 111-168, Summer 2026.
Abstract This study examines whether underwriting methods—representation, medical examination, extra premiums, and coverage—effectively mitigate adverse selection using data from an insurance company. Regarding representation, we focus on statements disclosing pre‐existing medical conditions.
Chia‐Ling Ho, Gene Lai, Chen‐Hsu Liao, Zifen Zeng   +3 more
wiley   +1 more source

Less known aspects of central hypothyroidism: Part 1 – Acquired etiologies

Journal of Clinical & Translational Endocrinology, 2018
Central hypothyroidism (CH) is a rare cause of hypothyroidism. CH is frequently overlooked, as its clinical picture is subtle and includes non-specific symptoms; furthermore, if measurement of TSH alone is used to screen for thyroid function, TSH ...
Salvatore Benvenga, Marianne Klose, Roberto Vita, Ulla Feldt-Rasmussen   +3 more
doaj   +1 more source

Homozygous Pathogenic Variant in Elongation Factor‐Like 1 (EFL1) as a Causal Factor in Shwachman‐Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
We report a Palestinian female infant with a homozygous pathogenic EFL1 variant (c.3284G>A; p.Arg1095Gln) causing Shwachman–Diamond syndrome type 2 (SDS2). Beyond the classical features of pancytopenia, exocrine pancreatic insufficiency, and growth failure, the patient showed previously unreported ocular manifestations—stage 2–3 retinopathy of ...
Ibrahim Taha, Antonella Minelli, Cesare Danesino, Abdelrahman Swalmeh, Khalil Huraibat, Liana Al‐Labadi, Rema Obar, Khaled R. Beshtawi, Lubna Abu Samrah, Yousef Awlad Mohammad, Aya Farah, Abdulrahman Obar, Mutasem Khalaf, Orwa Nasser   +13 more
wiley   +1 more source

A Case of Congenital Hypothyroidism in Cats: Diagnostic Challenges and Therapeutic Outcomes

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
Congenital hypothyroidism in a 3‐year‐old Persian cat was diagnosed via low total thyroxine levels unresponsive to TSH stimulation, alongside clinical signs of dwarfism and renal failure. Levothyroxine therapy significantly improved renal function and activity within 1 week.
Morteza Ezati Kakalar, Farkhondeh Fahim Dezhban, Amin Zamani, Sina Sabour Razlighi   +3 more
wiley   +1 more source