Publications by authors named "D Zenaty"
Article Synopsis
- - Turner syndrome (TS) is a rare genetic condition affecting about 1 in 2,500 liveborn girls, characterized by the absence of all or part of an X chromosome, with common karyotypes being 45,X and 45,X/46,XX mosaic.
- - The French National Diagnosis and Care Protocol (PNDS) aims to guide healthcare professionals in managing TS, providing insights based on expert consensus and literature review from the French National Reference Center for Rare Growth and Developmental Endocrine disorders.
- - TS can lead to several health issues, including growth retardation, gonadal dysgenesis, and increased risk of various congenital and acquired diseases, necessitating a collaborative approach among healthcare providers for effective patient
Article Synopsis
- Premature ovarian insufficiency (POI) is a condition that affects some women under 40, causing their ovaries to not work properly.
- The cause of POI can be from different reasons, like genetics or medical treatments, but in many cases, it is unknown.
- Women with POI may not have their periods and their hormone levels are off, but sometimes they can still get pregnant and may need hormone therapy until they're about 51 years old.
Context: When an SDHx mutation is identified in a patient with a pheochromocytoma (PCC) or a paraganglioma (PGL), predictive genetic testing can detect mutation carriers that would benefit from screening protocols.
Objective: To define the tumor detection rate in a large cohort of asymptomatic SDHX mutation carriers.
Design And Setting: Retrospective multicentric study in 6 referral centers.
Objective: Most children with endocrine diseases require long-term continuity of care. We investigated the prevalence of loss to follow-up (LTFU) in pediatric patients with chronic endocrine diseases and the risk factors associated with LTFU.
Methods: This observational cohort study included all children with chronic endocrine diseases included in the database of a single academic pediatric care center over a period of 8 years.
Objective Turner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions and to determine whether the frequencies of congenital and acquired conditions depend on X chromosome gene dosage, as a function of karyotype subgroup. Design and methods This national retrospective observational cohort study includes 1501 patients.
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