In internationally adopted children disorders of linear growth, puberty development, thyroid function, and bone metabolism are frequently reported. It is important that these children receive careful auxological and endocrinological evaluations and follow-up.Pediatricians and other healthcare providers should be aware that auxological and endocrinological problems are common in newly arrived international adoptees.
Objective: Endocrine abnormalities may represent the only clinical manifestation of primary mitochondrial disorders. This study aimed to evaluate the endocrinological characteristics of mitochondrial disease in our cohort.
Methods: A total of twenty-six pediatric patients diagnosed with mitochondrial disease were categorized on the basis of their specific genetic abnormalities.
Department of Human Pathology of adulthood and Childhood, Unit of Pediatrics, Endo-ERN Centre for Rare Endocrine Conditions, University of Messina, Messina, Italy.
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
This scoping review investigates the occurrence of endocrine problems in pediatric patients who have had central nervous system (CNS) infections, aiming to fill a knowledge gap.
Ten studies with a total of 211 patients, mostly around 4.9 years old, were reviewed, focusing on infections like meningitis and encephalitis.
Findings suggest that these infections can lead to conditions like hypopituitarism and other endocrine issues, emphasizing the need for regular endocrinological evaluations in affected children for early detection and treatment.
A study investigating endocrinopathies in 51 pediatric patients with Rett syndrome (RTT) found a high prevalence of various hormonal issues, particularly in those with specific genetic mutations.
The most common endocrinological problems included short stature (47%), menstrual cycle abnormalities (46.2%), and weight disorders (45.1%).
The research suggests that endocrinological evaluations should be part of a comprehensive care approach for RTT patients, especially those with certain genetic deletions.*
Purpose: The aim of our study was to compare the incidence of idiopathic central precocious puberty (CPP) in our highly specialized Endocrinological Center before and after the onset of COVID-19 lockdown; we also aimed to identify any potential difference between girls with CPP from the two different time periods.
Methods: We retrospectively analyzed the auxological profile of 49 girls with idiopathic CPP: 30 with pre-lockdown onset and 19 with post-lockdown onset of the disease. We collected patients' characteristics (medical history, physical examination, baseline and dynamic hormonal assessment, bone age, pelvic ultrasound) and compared them between the two groups.
