Publications by authors named "A Rochtus"
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.
Article Synopsis
- - A genetic condition known as Gordon Holmes syndrome combines symptoms like hypogonadotropic hypogonadism, cerebellar ataxia, chorea, and cognitive impairment, linked to biallelic pathogenic variants.
- - A case study involves two siblings, a 17-year-old brother with delayed puberty and gynecomastia, and a 15-year-old sister with primary amenorrhea, leading to clinical investigations that revealed reproductive and neurological issues.
- - Whole-exome sequencing confirmed a homozygous pathogenic variant in both siblings, with parents identified as heterozygous carriers, emphasizing that early signs of hypogonadism can indicate this complex neuroendocrine disorder.
Endocrine sequelae after pediatric craniopharyngioma treatment: a single-center retrospective cohort study.
J Pediatr Endocrinol Metab
November 2024
Objectives: Craniopharyngiomas (CP) are rare brain tumors with a low mortality rate, but with significant morbidity, in part due to the various long-term endocrine sequelae related to hypothalamic/pituitary deficiencies. Our objective was to assess the prevalence of endocrine dysfunction and outcome after treatment of CP at our institution and to apply the novel diagnostic criteria for hypothalamic syndrome (HS). In addition, we give an overview of treatments already attempted for hypothalamic obesity (HO).
View Article and Find Full Text PDFGrowth hormone (GH) deficiency (GHD) in children and adolescents can vary in severity and origin, with GH replacement therapy proving effective in achieving genetic target height. Optimal outcomes are seen in those treated early and with higher doses. As patients approach adult height, priorities shift towards optimizing metabolic effects, maintaining body composition, and enhancing bone mass and muscle strength.
View Article and Find Full Text PDFTopical corticosteroids are a mainstay in the treatment of many pediatric disorders. While they have proven beneficial therapeutic effects and are generally considered safe, systemic adverse events may occur. This study presents four cases of children who experienced systemic adverse events after using inhaled and intranasal topical corticosteroids, as well as topical corticosteroids in other forms.
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