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Pituitary stalk interruption syndrome with coexistent focal cortical dysplasia in a young boy.
BMJ Case Rep
January 2025
Paediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain.
This case report provides details of the first documented case of pituitary stalk interruption syndrome (PSIS) with coexistent focal cortical dysplasia (FCD) in a young boy. The child's initial presentation was an afebrile, generalised tonic-clonic seizure associated with postictal drowsiness. During his first episode, the physical examination revealed a short, obese child with a micropenis and left cryptorchidism.
View Article and Find Full Text PDFA Case of a Newborn Presenting With a VACTERL-Like Association.
Cureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.
View Article and Find Full Text PDFEtiology, histology, and long-term outcome of bilateral testicular regression: a large Belgian series.
Hum Reprod Open
December 2023
Department of Internal Medicine and Pediatrics, Ghent University, Pediatric Endocrinology Service, Ghent University Hospital, Belgium, Ghent.
Article Synopsis
- - The study investigates the long-term effects of bilateral testicular regression (BTR) in individuals, focusing on growth and development outcomes, particularly highlighting suboptimal penile growth often related to genetic factors.
- - BTR, a rare condition with potential vascular and genetic origins, was analyzed in a cross-sectional study involving 35 participants recruited from eight pediatric endocrinology departments in Belgium over three years.
- - Key findings revealed common maternal complications during pregnancy and identified specific genetic variants in some participants, while a centralized review of gonadal tissue contributed to understanding the condition's clinical implications.
Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.
Orphanet J Rare Dis
December 2024
Department of Endocrinology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, 639 Zhizaoju Road, Shanghai, 200011, China.
Background: Nuclear receptor subfamily 5 group A member 1 (NR5A1) plays pivotal roles in steroidogenesis and gonadal development. 46, XY disorder of sexual development (DSD) caused by NR5A1 mutations is a rare genetic condition. This study aimed to provide a comprehensive analysis of the clinical characteristics and molecular defects observed in 19 Chinese patients with NR5A1 variants, including assessing the deleterious effects of novel variants in vitro and evaluating their functional impact on the gonad and adrenal glands in vivo.
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