Hormone Research in Pædiatrics

INTRODUCTION: Females with transfusion-dependent -thalassemia (TDT) display menstrual irregularities and subfertility at certain points in their lives, even if well chelated, representing a significant physical and psychological burden. Little is known about the effects of pituitary and ovarian iron contents on ovarian reserve and function. Hence, this study aimed to assess ovarian reserve and pituitary-gonadal axis function in adolescent females with TDT and correlate them with pituitary and ovarian volume, pituitary iron load, and serum ferritin...

BACKGROUND: Despite all the technological advances in treatment of patients with type 1 diabetes (T1D), glucose control remains suboptimal in most patients. In addition, a relatively high percentage of patients with T1D, including children, have obesity. Therefore, new interventions are required that focus their effects on weight loss, in order to help with associated insulin resistance and improve glycemic control. SUMMARY: GLP1 receptor agonists (GLP-1 RA) have proven to be effective and safe in adults with T1D, showing improvement in glycemic control, body weight and cardio-renal protection...

INTRODUCTION: Individuals with differences of sex development (DSD) experience complex, often competing, medical and psychosocial challenges surrounding fertility. The study aimed to characterize how "success" in fertility-related care is conceptualized and attained among individuals with a DSD, their parents or caregivers, healthcare providers, and other stakeholders. METHODS: As part of a larger study, DSD stakeholders (n = 110) participated in semi-structured interviews covering the clinical care of patients with DSD...

INTRODUCTION: Pediatric thyroid nodules exhibit higher malignancy rates compared to adults and are associated with increased incidences of metastases and recurrences. The American Thyroid Association recommends surgery for indeterminate thyroid biopsies in children based on these higher malignancy risks, though this approach may lead to overtreatment. However, there remains a lack of comprehensive pediatric data to inform clinical decisions. This study examines the risk of malignancy (ROM) in pediatric thyroid nodules using the Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) and assesses the diagnostic accuracy of fine-needle aspiration biopsy (FNA) compared to histological outcomes...

INTRODUCTION: Most children with adrenocortical tumors (ACTs) present with accelerated growth and skeletal maturation at diagnosis, which potentially compromises their adult heights (AHs). Knowledge about growth and pubertal patterns after ACT resection is scarce. This study presents the pubertal and auxological development of patients treated for ACT and followed up at a single pediatric endocrinology service in Brazil. METHODS: Retrospective cohort study including 63 patients (47 girls) followed up between 1966 and 2021...

INTRODUCTION: Pseudohypoparathyroidism, newly classified as inactivating PTH/PTHrP signaling disorder (iPPSD) type 2 or type 3 is a rare disease caused by defects in the GNAS imprinted gene that encodes Gsα. The most common phenotype comprises resistance to hormones binding to G-protein coupled receptors such as PTH, PTHrP, or TSH, subcutaneous ossifications, short stature, brachydactyly, and early onset obesity. Uncommon features have been described including sleep apnea, asthma and resistance to calcitonin...

INTRODUCTION: Cushing's syndrome (CS) constitutes one of the most challenging diagnostic assessments for paediatric endocrinologists. The clinical presentation of some children with exogenous obesity overlaps with those observed in hypercortisolism states. Accurate, non-invasive first-line tests are necessary to avoid false-positive results in the obese. We aimed to evaluate the diagnostic accuracy of salivary cortisol to assess endogenous hypercortisolism in children with obesity and clinical overlapping signs of Cushing's syndrome...

INTRODUCTION: ACTH-independent Cushing's Syndrome (CS) is very rare condition in children. Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of CS, which in most cases occurs in the context of Carney complex (CNC). CNC is an autosomal-dominantly inherited genetic syndrome, usually due to pathogenic variants of the PRKAR1A (regulatory subunit R1A of the protein kinase A) gene. The clinical picture is characterized by spotty skin pigmentation, cardiac, cutaneous and mammary myxomas, melanocytic schwannomas, endocrinopathies and tumours of the endocrine glands (mostly adrenal, pituitary and thyroid)...

Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function variants in the ALPL gene, leading to deficient tissue-nonspecific alkaline phosphatase activity. This results in a distinctive biochemical profile marked by low serum alkaline phosphatase (ALP) levels and elevated pyridoxal-5-phosphate (PLP). The clinical spectrum of HPP ranges from perinatal lethality to asymptomatic cases, presenting significant diagnostic and therapeutic challenges. Diagnosis primarily hinges upon identifying the characteristic biochemical signature (low ALP, high PLP), concomitant with skeletal (osteomalacia, rickets, pseudofracture) or extraskeletal (muscle weakness, muskuloskeletal pain, dental) manifestations...

INTRODUCTION: Growth acceleration during postnatal growth only occurs during puberty as a physiological event and during catch-up growth mediated by growth promoting therapies in growth disorders. Here we report on novel observations on skeletal symptoms during treatment with Erdafitinib, a tyrosine kinase inhibitor (TKI) prescribed on the basis of a compassionate-use program. METHODS: Analysis of anthropometric, biochemical, clinical and radiographic data of patients with CNS tumors who revealed an unanticipated growth spurt with initiation of therapy with Erdafitinib was performed retrospectively...

Introduction Achieving evidence-based, high quality medical care is the overarching goal of healthcare quality management. Quality indicators (QI) serve as proxies to show whether good quality is reached or not. This article describes the development of QI for the evaluation of healthcare quality in the area of Differences of Sex Development (DSD). Methods Following the model of Donabedian, the aim was to develop QI to assess defined relevant aspects of the quality of structures, processes, and outcomes of care in DSD...

BACKROUND: Recent advances in insulin research open new avenues for treatment, both, for type 1 and type 2 diabetes. In developed countries, standardized "ultra-rapid-acting insulins" are now also used in addition to rapid-acting insulins. First- and second-generation basal analogs are available. Third generation basal analogs, which only need to be applied once a week, are in the pipeline. SUMMARY: Second-generation "ultra-rapid-acting insulins" insulins with faster onset and offset of action may be particularly useful for multiple daily injection and automated insulin delivery systems...

INTRODUCTION: While the influence of various factors on classical androgen synthesis in children and adolescents and its impact on puberty has been widely investigated, there appear to be gaps and contradictory findings regarding the association of overweight and obesity with the synthesis of adrenal-derived 11-oxygenated androgen (11-OA) serum levels. With this study, we aimed to examine how overweight and obesity affect 11-OA serum levels during puberty in a large cohort of children and adolescents...

INTRODUCTION: Thyroid dyshormonogenesis (TDH) is a sub-group of congenital hypothyroidism with recessive inheritance resulting from disease causing variants in thyroid hormone biosynthesis pathway genes, like DUOX2, TG, TPO, SLC5A5, SLC26A4, IYD, DUOXA2, SLC26A7 and SECISBP2. Thyroid peroxidase (TPO) is a crucial enzyme involved in thyroid hormone biosynthesis and is one of the frequently mutated genes in patients with TDH. The purpose of the study is to describe the insilico and functional characterization of novel variants in TPO gene identified in patients with thyroid dyshormonogenesis...

INTRODUCTION: Childhood hypophosphatemia is a rare condition and may be caused by malabsorption, malignancies, or genetic factors. Prolonged hypophosphatemia leads to impaired growth and radiographic signs of rickets. METHODS: We performed a detailed clinical and genetic evaluation of an adolescent boy with repeatedly low plasma phosphate concentrations (below 0.60 mmol/L), and growth failure. RESULTS: At 14 years, the patient presented with decelerating growth and delayed puberty...

INTRODUCTION: Growth patterns in Noonan syndrome (NS) remain relatively unknown. The objective of this study was to provide growth reference curves for patients with NS and identify correlations between their growth, genotype, and clinical features. METHODS: This was a 15-year-long, monocentric, observational, retrospective, non-interventional study. Children with NS followed up between 2005 and 2022 at 'Bambino Gesù' Children's Hospital, Italy, were included, and excluded if they had received growth hormone treatment...

INTRODUCTION: in this article, the importance of holistic care is highlighted trough the case of a 10-year-old female with diabetes type 1 presenting with recurrent severe hypoglycemia. CASE PRESENTATION: a 10-year-old female, with type 1 diabetes mellitus for two years, was hospitalized because of persistent hypoglycemia. At time of presentation, the patient was getting her insulin through an automated insulin delivery device (AID). She came to the emergency room because of severe hypoglycemia despite adequate administration of glucagon intranasal and oral sugar solutions...

Introduction The clinical features of bi-allelic IGF1 defects are well established, i.e. severe growth failure and microcephaly, delayed psychomotor development, and sensorineural deafness. However, information on clinical and endocrine consequences of heterozygous IGF1 variants and treatment options is scarce. We aimed at extending the knowledge base of the clinical presentation and growth response to recombinant human growth hormone (rhGH) of patients carrying such variants. Methods Retrospective case series of patients with pathogenic heterozygous IGF1 variants...

OBJECTIVES: Celiac disease (CD) is among the diseases most commonly associated with type 1 diabetes (T1D). This study aimed to evaluate the worldwide practices and attitudes of physicians involved in pediatric diabetes care regarding diagnosing and managing CD in children with T1D. METHODS: The 30-item survey was conducted between July and December 2023 aimed at targeting pediatricians with special interest in T1D and CD. It was shared by the JENIOUS- young investigators group of the International Society of Pediatric and Adolescent Diabetes (ISPAD) and the YES- early career group of the European Society for Pediatric Endocrinology (ESPE)...

Introduction TBX19 mutations cause isolated ACTH-deficiency. While this classically results in severe hypocortisolism, potential consequences for mineralocorticoid biosynthesis have not been described to date. Liquid chromatography mass spectrometry (LC-MS/MS) and gas chromatography mass spectrometry (GC-MS) allow novel insights into the steroid metabolism of pediatric endocrine diseases. Case presentation Patient 1 (female) presented right after birth with hypoglycemia and hyponatremia (minimum sodium 126 mmol/l)...