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Adrenal Cushing Syndrome: Diagnosis and Management in a 10-Year-Old Boy with Carney Complex.
Horm Res Paediatr
August 2024
Department of Human Pathology of adulthood and Childhood, Unit of Pediatrics, Endo-ERN Centre for Rare Endocrine Conditions, University of Messina, Messina, Italy.
Article Synopsis
- ACTH-independent Cushing syndrome (CS) is a rare condition in children, often linked to primary pigmented nodular adrenocortical disease (PPNAD), which is commonly associated with Carney complex (CNC), a genetic syndrome caused by mutations in the PRKAR1A gene.
- A 10-year-old boy presented with severe obesity and poor growth response despite dietary measures, which escalated over 10 months, leading to additional symptoms including hypertension and skin changes.
- After thorough testing, including imaging and genetic analysis, it was determined that he had ACTH-independent hypercortisolism due to bilateral micronodular adrenal hyperplasia, confirmed by a pathogenic variant in the PRKAR1A
Continuous Glucose Monitoring in Children and Adolescents with Congenital Adrenal Hyperplasia.
J Clin Res Pediatr Endocrinol
November 2023
Dr. von Hauner Children’s Hospital; Ludwig Maximilian University, Department of Paediatrics, Division of Paediatric Endocrinology, Munich, Germany
Objective: Patients with congenital adrenal hyperplasia (CAH) require lifelong therapy with glucocorticoids to suppress androgen excess and substitute for deficient cortisol. An important aspect of care is the prevention of metabolic sequelae. In infants, potentially lethal nocturnal hypoglycaemia has been described.
View Article and Find Full Text PDFInvestigating significant health trends in growth hormone treatments registry: rationale, aims and design of a nationwide prospective registry (study protocol).
Orphanet J Rare Dis
May 2023
Department of Pediatric and Adolescent Medicine, Friedrich-Alexander-University, Erlangen, Germany.
Background: Somatropin treatment is indicated in a variety of disorders including growth hormone (GH) deficiency, Prader-Willi and Turner syndrome, chronic renal insufficiency and others. To date, almost all studies have been limited to single GH products, and no independent registry across indications and somatropin products was ever established.
Aim: The present investigator-initiated registry named INSIGHTS-GHT aims to provide comprehensive information on various aspects of somatropin treatment in Germany in approved indications within routine clinical practice: drug utilization, effectiveness (including real final height, body composition), tolerability, quality of life, other patient related outcomes (PRO), and health economic variables.
Prematurity and BPD: what general pediatricians should know.
Eur J Pediatr
April 2023
Neonatal Intensive Care Unit, Department of Woman`s and Child`s Health, University Hospital of Padova, via N. Giustiniani 3, Padova, 35128, Italy.
More and more very low birth weight (VLBW) infants around the world survive nowadays, with consequently larger numbers of children developing prematurity-related morbidities, especially bronchopulmonary dysplasia (BPD). BPD is a multifactorial disease and its rising incidence in recent years means that general pediatricians are much more likely to encounter a child born extremely preterm, possibly with BPD, in their clinical practice. Short- and long-term sequelae in VLBW patients may affect not only pulmonary function (principally characterized by an obstructive pattern), but also other aspect including the neurological (neurodevelopmental and neuropsychiatric disorders), the sensorial (earing and visual impairment), the cardiological (systemic and pulmonary hypertension, reduced exercise tolerance and ischemic heart disease in adult age), nutritional (feeding difficulties and nutritional deficits), and auxological (extrauterine growth restriction).
View Article and Find Full Text PDFSalivary 17-Hydroxyprogesterone Levels in Children with Congenital Adrenal Hyperplasia: A Retrospective Longitudinal Study Considering Auxological Parameters.
Horm Res Paediatr
June 2023
Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
Introduction: Children with classical congenital adrenal hyperplasia (CAH) have an impaired steroid synthesis due to 21-hydroxylase dysfunction and require glucocorticoid replacement. Therapy management in children and adolescent is based on auxological, clinical, and laboratory monitoring. The measurement of steroid precursors in saliva is particularly suitable for patients in pediatric endocrinology.
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