Hormone Research in Pædiatrics

BACKGROUND: Skeletal dysplasias encompass a group of genetic conditions associated with cartilaginous and bone tissue abnormalities, exhibiting a variable phenotype depending on the involved genes and mechanisms. Differential diagnosis is challenging as there are many skeletal dysplasias with similar phenotypes. SUMMARY: In this review, we describe the physiology of skeletal development and the classification of skeletal dysplasias, followed by a practical approach to the workup of a child with suspected skeletal dysplasia...

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BACKGROUND: In the last 15 years, the care provided for individuals born with differences of sex development (DSD) has evolved, with a strong emphasis on interdisciplinary approaches. However, these developments have not convinced some stakeholders to embrace the current model of care. This care model has also paid insufficient attention to socio-cultural differences and global inequalities. SUMMARY: This article is an opinion statement, resulting from in-depth discussions and reflection among clinicians, patients, and family support organizations based in the US and Europe, where we seek areas of common ground and try to identify opportunities to further develop resources...

INTRODUCTION: Menarche is the last stage of pubertal development, which coincides with the completion of longitudinal growth. As a consequence of the lack of national and up-to-date data related to post-menarcheal (PM) growth, the aim of our work was to evaluate post menarcheal growth in a group of contemporary healthy Chilean girls followed, prospectively, until 4 years post-menarche. METHODS: This study was nested within the GOCS cohort, in a prospective fashion...

INTRODUCTION: Agranulocytosis is a rare, but serious complication of methimazole (MMI) use for Graves' disease (GD). Treatment requires discontinuation of MMI, and the use of propylthiouracil (PTU) is also contraindicated. Few reports exist about the optimal alternative treatment regimens for the management of thyrotoxicosis in these medically complex patients in the pediatric population. CASE REPORT: We report prolonged saturated solution of potassium Iodide (SSKI) use (29 days) in a 17-year-old female with GD and MMI-induced agranulocytosis, who presented with septic shock...

INTRODUCTION: Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Loss of function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene causes X-linked central hypothyroidism and represent the most common genetic cause of central hypothyroidism. In addition to central hypothyroidism, some patients with IGSF1 deficiency have hypoprolactinemia, transient and partial growth hormone deficiency, early/normal timing of testicular enlargement but delayed testosterone rise in puberty, and adult macro-orchidism...

UNLABELLED: Novel Insights: - There are only three reported cases of precocious puberty in boys with CKD - Hypothalamic dysfunction due to uremia, and disordered renal clearance of LH, may lead to central precocious puberty, which resolves after uremia is corrected, e.g., after kidney transplant. - Increased drug clearance via peritoneal dialysis and/or an effect of uremia may lead to a sub-optimal response to leuprolide therapy. - Further studies are needed to characterize the relationship of CKD and peritoneal dialysis on puberty...

INTRODUCTION: Traumatic brain injury (TBI) is a leading cause of acquired neurological morbidity. The prevalence of post-traumatic hypopituitarism (PTHP) and associated morbidity after childhood TBI is unclear. Our study investigated long term HPA (hypothalamus-pituitary-adrenal) axis function, in a prospective childhood TBI and control cohort, using measures of cortisol/cortisone secretion (physiological, stimulated), HPA axis feedback and exploring associations with fatigue, depression and Quality of Life (QoL) outcomes...

INTRODUCTION: Heterozygous variants in the ACAN gene may underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or early-onset osteoarthritis (OA). METHODS: The objective of this study was to describe phenotype, analyze genotype-phenotype correlations, and assess the response of growth hormone (GH) treatment in children with a heterozygous ACAN variant. Thirty-six subjects (23 boys, 13 girls) with ACAN deficiency and treated for ≥1 year with GH were identified in the Dutch National Registry of GH treatment in children...

Metabolic bone disease of prematurity (MBDP) is defined by undermineralization of the preterm infant skeleton arising from inadequate prenatal and postnatal calcium (Ca) and phosphate (PO4) accretion. Severe MBDP can be associated with rickets and fractures. Despite advances in neonatal nutrition, MBDP remains prevalent in premature infants due to inadequate mineral accretion ex-utero. There also remain significant knowledge gaps regarding best practices for monitoring and treatment of MBDP among neonatologists and pediatric endocrinologists...

BACKGROUND: Recently, numerous studies have addressed the long-term effects of treatment with gonadotropin-releasing hormone analogue (GnRHa) in patients with central precocious puberty (CPP). However, the effects of GnRHa treatment on body mass index (BMI) in patients with CPP remain controversial. OBJECTIVES: This systematic review and meta-analysis aimed to evaluate the association between GnRHa treatment and BMI in patients with CPP. METHOD: A systematic search of databases, PubMed, EMBASE and Web of Science published before August 2021 identified relevant studies...

INTRODUCTION: Pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome is a rare disease, and part of the cluster Histiocytosis-lymphadenopathy plus syndrome (H syndrome), which is associated with mutations in the SLC29A3 gene. Patients with PHID show clinical features of H syndrome, but also have insulin-dependent diabetes mellitus. The PHID associated diabetes has previously been described as predominantly in absence of pancreatic autoantibodies. Case Series Presentation: Through an open call in two international diabetes registers, clinical and genetic characteristics of 7 PHID patients in 6 treatment centres were collected after informed consent...

Current clinical guidelines provide information about the diagnostic workup of children with growth failure. This mini-review focuses on the nutritional assessment, which has received relatively little attention in such guidelines. The past medical history, in particular a low birth size and early feeding problems, can provide information that can increase the likelihood of nutritional deficits or several genetic causes. The current medical history should include a dietary history and can thereby reveal a poorly planned or severely restricted diet, which can be associated with nutritional deficiencies...

INTRODUCTION: Among children born small for gestational age, 10-15% fail to catch up and remain short (SGA-SS). The underlying mechanisms are mostly unknown. We aimed to decipher genetic aetiologies of SGA-SS within a large single-centre cohort. METHODS: Out of 820 patients treated with growth hormone (GH), 256 were classified as SGA-SS (birth length and/or birth weight <-2 SD for gestational age and life-minimum height <-2.5 SD). Those with the DNA triplet available (child and both parents) were included in the study (176/256)...

BACKGROUND: DHX37 is an autosomal gene responsible for encoding a helicase from the DExD/H-box family that plays an essential role in ribosome biogenesis. Variants in this gene were previously reported in two different phenotypes: neurodevelopmental disorders and disorders/differences of sex development (DSD). Particularly for the DSD group, variants were mainly reported associated with gonadal dysgenesis and testicular regression syndrome. SUMMARY: Focusing specific in the DSD group, we revised the 21 DHX37 variants described across a total of 55 cases published in the literature so far...

INTRODUCTION: Diagnosing hypoglycemia in infants and children presents significant challenges. Our objective was to elucidate the diagnoses and clinical features of children with hypoglycemia referred to a pediatric endocrine tertiary clinic. METHODS: Retrospective study of 154 children (0-18 years old) presenting with hypoglycemia, during 1992-2018. RESULTS: The cohort was divided by clinical diagnosis into six groups: ketotic hypoglycemia (n=45, 29...

INTRODUCTION: Reducing cardiovascular risk factors (CVRFs) exposure in children and youths with type 1 diabetes (T1D) is critical for cardiovascular diseases (CVD) prevention. Long-term exposure to hyperglycaemia, measured by HbA1c, had been recognized as the main factor affecting CVRFs profile. To date, the possible association between short-term glycaemic control and variability measured by continuous glucose monitoring (CGM) metrics and CVRFs has not been explored. The aim of this study was to test the hypothesis that CGM metrics independently contribute to CVRFs exposure in children and youths with T1D...

INTRODUCTION: False negative results during inferior petrosal sinus sampling (IPSS) may complicate the diagnostic evaluation of patients with ACTH-dependent Cushing syndrome (CS). The management of these patients can be confusing for clinicians and lead to delayed management. METHODS: We studied patients with young-onset (<21yo) CD who underwent IPSS during their diagnostic evaluation. For all patients, diagnosis of CD was eventually confirmed based on histologic evaluation of a resected pituitary tumor or remission after transsphenoidal surgery (TSS)...

INTRODUCTION: Atherosclerosis in patients with type 1 diabetes starts early in childhood with subclinical abnormalities. The epicardial fat thickness (EFT) is a novel method for detecting these early changes. Furthermore, electrocardiographic markers may be altered in patients with diabetes owing to early cardiovascular changes. This study aimed to determine the relationship between EFT and electrocardiographic markers in children with type 1 diabetes mellitus. METHODS: Children with type 1 diabetes who were followed up at Alexandria University Children's Hospital Diabetes Clinic were enrolled in this study...

INTRODUCTION: A reninoma (juxtaglomerular cell tumour) is a rare cause of secondary hypertension that can present with headaches alongside the triad of severe hypertension, hypokalemia, and metabolic alkalosis. CASE PRESENTATION: We describe a case of a 15-year-old previously healthy girl who presented with headaches and hypertensive urgency who had severe hypokalemia, moderate hyponatremia and elevated aldosterone and renin levels. Abdominal ultrasound and MRI with contrast revealed a unilateral mass localized to the right kidney...