Publications by authors named "Carmen Bucolo"
Background: Diazoxide is the sole approved drug for congenital hyperinsulinism; however, diuretic administration and vigilant monitoring are crucial to prevent and promptly identify potentially life-threatening adverse effects. This report aims to highlight a seldom-considered rare side effect of diazoxide. We believe that this brief report is of general interest to readership and increase the physicians' awareness of the guideline importance.
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- Differences of sex development (DSD) encompasses a range of congenital conditions affecting chromosomal, gonadal, and anatomical sex development, often linked to atypical hormonal exposure or internal genital abnormalities.
- DSD can manifest in various clinical phenotypes, leading to diagnoses at birth, during adolescence due to changes in virilization, or pubertal delays.
- This review highlights rare causes of 46,XX DSD beyond congenital adrenal hyperplasia (CAH), focusing on their genetic, clinical characteristics, as well as puberty and fertility outcomes.
Article Synopsis
- Prader-Willi syndrome (PWS) is a genetic disorder caused by different problems on chromosome 15, affecting how some genes work.
- People with PWS often feel super hungry all the time, can become very overweight, and may have other health and learning issues.
- The review explores how different genetic causes of PWS can lead to specific health problems and looks for ways to improve diagnosis and treatments for those affected.