A5019114302- Growth Hormone and Insulin-like Growth Factors
- Adrenal Hormones and Disorders
- Thyroid Disorders and Treatments
- Sexual Differentiation and Disorders
- Hormonal Regulation and Hypertension
- Diabetes and associated disorders
- Birth, Development, and Health
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Pituitary Gland Disorders and Treatments
- Obesity, Physical Activity, Diet
- Thyroid Cancer Diagnosis and Treatment
- Childhood Cancer Survivors' Quality of Life
- Neuroscience of respiration and sleep
- Genetics and Neurodevelopmental Disorders
- Systemic Lupus Erythematosus Research
- Ovarian function and disorders
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Pancreatic function and diabetes
- Hypothalamic control of reproductive hormones
- Metabolism and Genetic Disorders
- Hormonal and reproductive studies
- Neonatal Respiratory Health Research
- Gender Studies in Language
- T-cell and B-cell Immunology
- Molecular Biology Techniques and Applications
Santobono Children's Hospital
2021-2025
Federico II University Hospital
2012-2023
Great Ormond Street Hospital
2016-2020
University College London
2016-2020
University of Naples Federico II
2012-2020
Royal London Hospital
2020
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...
PATIENTS with classic congenital adrenal hyperplasia (CAH) are treated lifelong glucocorticoids (GCs). Cardiovascular and metabolic effects of such therapy in adolescents have never been quantified.Our objective was to investigate left ventricular (LV) morphology, function, exercise performance CAH.We conducted a cross-sectional controlled study at tertiary referral center.Twenty patients CAH (10 females) aged 13.6 ± 2.5 years 20 healthy controls comparable for sex pubertal status were...
Background: Multiple genes can disrupt hypothalamic–pituitary axis development, causing multiple pituitary hormone deficiencies (MPHD). Despite advances in next-generation sequencing (NGS) identifying over 30 key genes, 85% of cases remain unsolved, indicating complex genotype–phenotype correlations and variable inheritance patterns. Objective: This study aimed to identify the MPHD genetics three probands from two unrelated families. Methods: Family A had one affected child, while B...
We report on a 3-year and 5-month-old boy who was referred for suspected rickets, due to knee valgus deformity developed over the previous year. The child had history of epilepsy well-controlled with phenobarbital. His psychomotor development growth metrics were appropriate his age. On admission, laboratory work-up revealed elevated alkaline phosphatase (1289 U/L) parathyroid hormone (PTH) (417 pg/ml), normal corrected calcium (9,3 mg/dl) creatinine (0,21 mg/dl), low phosphate (3,2...
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...
<b><i>Background:</i></b> The p.R63W mutation in the hepatocyte nuclear factor-4 alpha<i> (HNF4A)</i> results macrosomia and atypical Fanconi syndrome, addition to hyperinsulinaemic hypoglycaemia (HI). We describe 2 infants carrying this mutation, presenting with additional features. <b><i>Cases Series:</i></b> Patient 1, a male born birth weight of 1.7 SDS, was diagnosed HI on day life. He responded 3-10 mg/kg/day diazoxide. Raised...
Abstract Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2 . It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare two patients molecularly confirmed NS/LAH diagnosis, clinical phenotype pathogenetic mechanism underlying stature. In particular,...
Growth hormone deficiency (GHD) in children may be associated with early cardiovascular risk factors and alterations left ventricular (LV) structure function; data on cardiopulmonary functional capacity are lacking. Aim of the study was to evaluate effect GHD growth (GH) therapy capacity, right cardiac function, body composition adolescents. Prospective, case-control study. Twenty-one untrained (11.3 ± 0.8 years) underwent exercise testing, echocardiography dual-energy x-ray absorptiometry,...
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...
Diencephalic syndrome (DS) is a rare pediatric condition associated with optic pathway gliomas (OPGs). Since they are slow-growing tumors, their diagnosis might be delayed, consequences on long-term outcomes. We present multicenter case series of nine children DS OPG, the aim providing relevant details about mortality and sequelae. retrospectively identified (6 M) (median age 14 months, range 3-26 months). Four patients had NF1-related OPGs. Children NF1 were significantly older than...