Subclinical hypothyroidism (SH), defined as increased TSH serum levels and normal free T4 concentrations, has been associated with an risk of coronary heart disease in adults. Data children adolescents are scanty.The objective the study was to investigate clinical biochemical cardiovascular factors mild SH (serum concentrations 4.5-10 mU/L).This is a cross-sectional controlled conducted at tertiary referral center on patients persistent idiopathic long-standing (3.2 ± 0.4 y) SH. At entry...

The treatment of children with subclinical hypothyroidism (SH) is controversial for TSH values between 4.5 and 10 mU/l. aim this cross-sectional, controlled study was to evaluate growth intellectual outcome in persistent SH who have never been treated levothyroxine.Clinical auxological parameters, thyroid function, were evaluated 36 at the age 9.7±0.6 (range 4-18.0) years. Children had followed longitudinally 3.3±0.3 2.0-9.3) years, from first diagnosis until enrollment study. Thirty-six...

Since hypothalamic obesity (HyOb) was first described over 120 years ago by Joseph Babinski and Alfred Fröhlich, advances in molecular genetic laboratory techniques have allowed us to elucidate various components of the intricate neurocircuitry governing appetite weight regulation connecting hypothalamus, pituitary gland, brainstem, adipose tissue, pancreas, gastrointestinal tract. On a background an increasing prevalence population-level common obesity, number survivors congenital (eg,...

Objective To investigate the effect of levothyroxine (L-T4) treatment on early markers atherosclerotic disease in children with mild idiopathic subclinical hypothyroidism (SH). Design Two-year, open, case–control prospective study. Methods A total 39 children, aged 9.18±3.56 years, SH and healthy controls were enrolled Waist-to-height ratio (WHtR), blood pressure, triglycerides, cholesterol (total-C), HDL-C, LDL-C, non-HDL-C, triglycerides/HDL-C, atherogenic index (AI), homocysteine (Hcy),...

PurposeCongenital hypopituitarism (CH) disorders are phenotypically variable. Variants in multiple genes associated with these disorders, variable penetrance and inheritance.MethodsWe screened a large cohort (N = 1765) of patients or at risk CH using Sanger sequencing, selected according to phenotype, conducted next-generation sequencing (NGS) 51 families within our cohort. We report the clinical, hormonal, neuroradiological phenotypes variants known CH.ResultsWe identified 178 patients:...

<title>Abstract</title> The challenges associated with infertility and its treatments impose considerable psychological physical burdens on patients, highlighting the critical need for patient-centred care to optimise therapeutic outcomes. This observational study assessed patient satisfaction two specific aspects of in vitro fertilisation (IVF) treatment: ultrasound-guided embryo transfer opportunity view embryos a screen before transfer. Additionally, we explored role continuous by same...

Septo-optic dysplasia (SOD) is a heterogeneous congenital condition. The aim of this study was to investigate the clinical phenotypes large cohort children with SOD, Multiple Pituitary Hormone Deficiency (MPHD) and Optic Nerve Hypoplasia (ONH), focus on endocrine testing.Retrospective single-centre longitudinal SOD (n:171), MPHD (n:53) ONH (n:35). SOD+ SOD- indicate patients or without hypopituitarism, respectively.All deficits were more frequent occurred earlier in than [Hazard Ratios (HR):...

Subclinical hypothyroidism (SH) is a relatively common condition characterized by mild persistent thyroid failure. The management of children with SH still controversial issue and the decision to treat L-thyroxine represents clinical dilemma. Thyroid hormone TSH play an important role in skeletal growth bone mineral homeostasis.To evaluate whether untreated idiopathic may affect health childhood compare two different diagnostic tools such as dual-energy X-ray densitometry (DXA) quantitative...

Despite high survival, paediatric optic pathway hypothalamic gliomas are associated with significant morbidity and late mortality. Those youngest at presentation have the worst outcomes. We aimed to assess presenting disease, tumour location, treatment factors implicated in evolution of neuroendocrine, metabolic, neurobehavioural 90 infants/children diagnosed before their third birthday followed-up for 9.5 years (range 0.5-25.0). A total 52 (57.8%) patients experienced endo-metabolic...

Abstract The immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome is an autosomal recessive disease presenting with immunodeficiency secondary to hypo‐ or agamma‐globulinemia, developmental delay, and anomalies. Centromeric instability the cytogenetic hallmark of disorder which results from targeted chromosomal rearrangements related a genomic methylation defect. We describe patient carrying homozygous mutation ZBTB24 gene, has been recently shown be responsible for ICF...

Patients with congenital hypothyroidism (CH) display subclinical abnormalities of the cardiovascular system that are related to unphysiological fluctuations TSH levels and occur despite careful replacement therapy.The aim present case-control study was evaluate effects long-term levothyroxine (l-T(4)) therapy on vascular district in CH patients by assessing endothelial function flow-mediated dilation (FMD) brachial artery distensibility measurement coefficient (DC).Thirty-two young adults...

Abstract Objectives Sex steroids, administered as a priming before GH stimulation tests (GHST) to differentiate between growth hormone deficiency (GHD) and constitutional delay of puberty (CDGP) or growth‐promoting therapy using low‐dose sex steroids (LDSS) in CDGP, are much debated. We aimed compare auxological outcomes CDGP GHD children undergoing primed unprimed GHST evaluate LDSS treatment CDGP. Design Retrospective study among three paediatric University Hospitals Italy UK. Methods 184...

Background: Iodide transport defects (ITDs), rare causes of congenital hypothyroidism (CH), have been shown to arise from abnormalities the sodium/iodide symporter (NIS). We describe a 16-year-old girl with CH caused by an ITD resulting novel mutation NIS. Summary: A diagnosed neonatal screening program received early treatment L-thyroxine replacement therapy. 123I scan had failed reveal any iodide uptake thyroid and salivary glands; thus, agenesis was diagnosed. Thyroglobulin (Tg) not...

Abstract Subclinical hypothyroidism (SH) is a condition characterized by mild persistent thyroid failure. The main cause represented autoimmune thyroiditis, but mutations in genes encoding proteins involved TSH pathway are thought to be responsible for SH, particularly cases arising familial settings. Patients with the syndrome of unresponsiveness may have compensated or overt wide spectrum clinical and morphological alterations depending on degree impairment TSH-receptor (TSH-R) function....

Abstract Context 45,X/46,XY mosaicism is a disorder of sex development leading to abnormal gonadal and unpredictable genital phenotype, growth, pubertal development. Case Description A 2-year-old male presented with right impalpable testis. Blood karyotype was 46,XY. laparoscopy performed for orchidopexy revealed streak gonad Mullerian structures, whereas on the left side, normal descended testis present. The removed 45,X/46,XY. child grew along second centile, within midparental height...

Initially described as an uncommon presenting feature of Sotos syndrome (SoS), over the last decades, congenital hyperinsulinaemic hypoglycaemia (CHI) has been increasingly reported in association with this condition. The mechanism responsible for CHI SoS is unclear. We report case a neonate and extensive venous arterial thrombosis associated kidney, heart, liver, skeleton, brain abnormalities finally diagnosed on whole genome sequencing. Our describes extended phenotype (including liver...

Abstract Hypopituitarism in childhood is a rare, complex disorder that can present with highly variable phenotypes, which may continue into adult life. Pituitary deficits evolve over time, unpredictable patterns resulting significant morbidity and mortality. hypothalamic dysfunction be associated challenging comorbidities such as obesity, learning difficulties, behavioral issues, sleep disturbance, visual impairment. Transition the purposeful planned movement of adolescents young adults...