Federico Baronio
A5050049065- Sexual Differentiation and Disorders
- Metabolism and Genetic Disorders
- Adrenal Hormones and Disorders
- Hormonal and reproductive studies
- Growth Hormone and Insulin-like Growth Factors
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Hormonal Regulation and Hypertension
- Urological Disorders and Treatments
- Thyroid Disorders and Treatments
- Folate and B Vitamins Research
- Pituitary Gland Disorders and Treatments
- Diet and metabolism studies
- Diabetes and associated disorders
- Parathyroid Disorders and Treatments
- Neonatal Health and Biochemistry
- Hypothalamic control of reproductive hormones
- Neuroblastoma Research and Treatments
- Glioma Diagnosis and Treatment
- Bone Tumor Diagnosis and Treatments
- Diabetes Management and Research
- Cancer, Hypoxia, and Metabolism
- Cancer-related molecular mechanisms research
- Genetic Syndromes and Imprinting
- Glycogen Storage Diseases and Myoclonus
- Mitochondrial Function and Pathology
Azienda USL di Bologna
2021-2025
University of Bologna
2012-2025
Policlinico S.Orsola-Malpighi
2015-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2021
Istituto Ortopedico Rizzoli
2015
Ospedale di Bolzano
2011
BackgroundSteroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes differences development (DSD), which remain unexplained.MethodsWe conducted retrospective analysis on the so far largest international cohort individuals variants, identified through I-DSD registry and research network.FindingsAmong 197 we confirmed diverse phenotypes. Over 70% 46, XY had severe DSD phenotype, while 90% XX...
Abstract Objective 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSDD) and 5α-reductase type 2 (5α-RD) are rare 46,XY differences of sex development (DSD). This study aims to enlarge the limited knowledge on long-term gonadal function pathology in these conditions. Design Retrospective multicentre cohort study. Methods Data phenotype, laboratory results, hormone treatment were collected from patients aged ≥16 years at time data collection with genetically confirmed 17β-HSDD 5α-RD 10...
Abstract In a retrospective study we evaluated long-term growth, pubertal developmental patterns to final height (FH), and medication in 55 patients (35 females) affected by 21-hydroxylase deficiency. The were classified into 3 groups according predicted mutation severity: group A (11 women 9 men), homozygous or compound heterozygous for null In2 splice mutations [residual enzymatic activity (RA), <1%]; B 4 I172N R341P R426H (RA, ∼2–3%) with any of the mutations; C (13 7 P30L V281L...
Previous investigations have suggested that osteosarcoma may be associated with a taller stature, but the relationship between height and remains controversial. Height at diagnosis was evaluated in continuous series of 962 subjects treated 1981 2001. Patients diagnosed during growth (group 1) were separated from those adulthood 2). (H) final (FH) expressed as standard deviation scores (SDS), calculated by national reference data. Group 1 above 50th centile their mean H-SDS values (0.31 +/-...
X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and caused by mutation in PHEX gene, resulting excessive expression phosphaturic factor FGF23. Symptoms are mainly related to children osteomalacia adults several complications that can be highly invalidating. Due its rarity, XLH poorly known diagnosis frequently delayed. Conventional treatment based on oral phosphate salts supplementation activated vitamin D analogs, which however, cannot cure disease...
Abstract Context No consensus exists for optimization of mineralocorticoid therapy in patients with primary adrenal insufficiency. Objective To explore the relationship between (MC) replacement dose, plasma renin concentration (PRC), and clinically important variables to determine which are most helpful guiding MC dose titration Design Observational, retrospective, longitudinal analysis. Patients A total 280 (with 984 clinical visits measurements) insufficiency were recruited from local...
Abstract Context Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that poorly characterized in children. Objective To describe causes, presentation, auxological outcome, frequency of crisis mortality large cohort children with PAI. Patients Methods Data from 803 patients 8 centers Pediatric Endocrinology were retrospectively collected. Results The following etiologies reported: 85% (n = 682) congenital hyperplasia (CAH) due to 21-hydroxylase deficiency...
Testicular adrenal rest tumors (TARTs) are benign neoplasms affecting patients with congenital hyperplasia (CAH). The prevalence of TART in adult CAH is not well known. Ultrasonography (US) the main tool for diagnosing and role contrast-enhanced US (CEUS) never investigated. aim this study was to evaluate adults CAH, by stratifying according disease phenotype assessing diagnostic performance US, color Doppler (CD) CEUS.Male >16 years old certain diagnosis who underwent TARTs, between...
Background Information on clinical outcomes of coronavirus disease 19 (COVID-19) infection in patients with adrenal disorders is scarce. Methods A collaboration between the European Society Endocrinology (ESE) Rare Disease Committee and Reference Network Endocrine Conditions via Registries for allowed collection data 64 cases (57 insufficiency (AI), 7 Cushing’s syndrome) that had been reported by 12 centres 8 countries January 2020 December 2021. Results Of all patients, 23 were males 41...
There has been concern about a potential increase in the incidence or severity of Coronavirus Disease 2019 (COVID-19) individuals with adrenal insufficiency (AI). Data on course SARS-CoV-2 infection AI children are lacking. Evaluate whether more susceptible to at risk severe COVID-19. 1143 AI. Of these, 148 patients, 112 primary (PAI) and 36 secondary (SAI), 74 control subjects normal function, who contracted SARS-CoV-2, were evaluated for outcomes infection. Multicenter, retrospective. The...
Oligogenic inheritance has been suggested as a possible mechanism to explain the broad phenotype observed in individuals with differences of sex development (DSD) harbouring NR5A1/SF-1 variants. We investigated genetic patterns oligogenicity cohort 30 variants and 46,XY DSD recruited from international SF1next study, using whole exome sequencing (WES) on family trios whenever available. WES data were analysed tailored filtering algorithm designed identify rare SF-1-related genes. Identified...
Abstract Background Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) affects approximately 1 in 15,000 individuals. We leveraged the power of multicentre registry data assess trend and predictors blood pressure (BP) within children young persons with 21OHD inform monitoring strategies. Method Data from International CAH Registry patients younger than 20 years was compared normative values. Values BP were modelled create reference curves, multiple change point...
Background: Expanded Newborn Screening (ENS) allows the early identification of many inherited metabolic diseases (IMDs) for which timely treatment can modify natural history. For most IMDs, diagnosis by ENS is pre-clinical. However, clinical symptoms may emerge certain conditions before screening results become available. Methods: We describe six cases patients with early-onset IMDs born between 2013 and 2023, who were admitted or transferred to Sant’Orsola University Hospital in Bologna...
Abstract Background 46,XY gonadal dysgenesis is classified as complete (CGD) or partial (PGD) subtypes. The phenotype of PGD and the long-term outcome not clearly defined. Objective To evaluate clinical features pubertal in a large cohort, using CGD comparator for diagnostic clarity. Methods Patients with GD were identified from I-DSD Registry data on phenotype, genetics, biochemistry, histology development collated three categories; (n=100), assigned female (PGDf, n=107) male (PGDm, n=103)...
Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene characterized by progressive chronic kidney (CKD). Here, we aimed to investigate long-term renal outcome identify potential determinants of CKD its progression children these tubulopathies. Retrospective analyses were conducted clinical genetic data a cohort 106 boys (LS: 88 DD2: 18). For genotype–phenotype analysis, grouped according their type localization. To used survival analysis...
Short-chain acyl-coA dehydrogenase deficiency (SCADD) is an autosomal recessive inborn error of mitochondrial fatty acid oxidation caused by ACADS gene alterations. SCADD a heterogeneous condition, sometimes considered to be solely biochemical condition given that it has been associated with variable clinical phenotypes ranging from no symptoms or signs metabolic decompensation occurring early in life. A reason for this variability due SCAD alterations, such as the common p.Gly209Ser, confer...
Abstract Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (MKD/HIDS) are disorders of cholesterol biosynthesis caused by variants in the MVK gene characterized increased urinary excretion mevalonic acid. So far, 30 MVA patients have been reported, suffering from recurrent febrile crises neurologic impairment. Here, we present an in‐depth analysis phenotypic spectrum provide in‐silico pathogenicity model missense variants. The 11 (age range 0‐51 years) registered Unified...
Context: GH replacement therapy in GH-deficient (GHD) patients is usually continued until adult height despite the fact that most of these subjects display a normal secretion when retested at end growth. Puberty likely time for normalization secretion.
To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.A questionnaire was designed and distributed, including 17 questions collecting quantitative qualitative data. Thirty-six centres from 14 European countries responded 30 out 36 were reference Reference Network on Rare Endocrine Conditions, EndoERN.Pdex is currently provided by 36% surveyed centres. The initiated different...
To study the current practice for assessing comorbidity in adults with 21-hydroxylase CAH and to assess prevalence of these adults.A structured questionnaire was sent 46 expert centres managing CAH. Information collected included therapy surveillance a particular focus on osteoporosis/osteopaenia, hyperlipidaemia, type 2 diabetes/hyperinsulinaemia, hypertension, CV disease, obesity.Of 31 (67%) from 15 countries that completed survey, 30 (97%) screened hypertension by measuring blood...
Despite the optimization of replacement therapy, adrenal crises still represent life-threatening emergencies in many children with insufficiency.We summarized current standards clinical practice for crisis and investigated prevalence suspected/incipient crisis, relation to different treatment modalities, a group insufficiency.Fifty-one were investigated. Forty-one patients (32 <4 yrs 9 >4 yrs) used quartered non-diluted 10 mg tablets. Two micronized weighted formulation obtained from liquid...