A5023836266- Hypothalamic control of reproductive hormones
- Autoimmune Neurological Disorders and Treatments
- Cytomegalovirus and herpesvirus research
- Blood Coagulation and Thrombosis Mechanisms
- Genetics and Neurodevelopmental Disorders
- Fibroblast Growth Factor Research
- RNA regulation and disease
- Kawasaki Disease and Coronary Complications
- Pediatric Hepatobiliary Diseases and Treatments
- Sexual Differentiation and Disorders
- Congenital Anomalies and Fetal Surgery
- Neurological diseases and metabolism
- Peripheral Nerve Disorders
- Genetic Syndromes and Imprinting
- Intestinal Malrotation and Obstruction Disorders
- Trace Elements in Health
- Spinal Cord Injury Research
- Hormonal and reproductive studies
- Coronary Artery Anomalies
- Thyroid Disorders and Treatments
- Hemoglobinopathies and Related Disorders
- Axon Guidance and Neuronal Signaling
- Potassium and Related Disorders
- Obsessive-Compulsive Spectrum Disorders
Magna Graecia University
2022-2024
Azienda Ospedaliera Pugliese Ciaccio
2017-2022
Congenital hypogonadotropic hypogonadism (CHH) is a rare and heterogeneous genetic disorder with variable penetrance caused by GnRH deficiency, leading to delayed puberty infertility. In 50–60% of cases, CHH associated non-reproductive abnormalities, most commonly anosmia/hyposmia (Kallmann syndrome, KS). Over 60 genes have been implicated in pathogenesis. We aimed perform screening cohort 14 patients (10 males, 4 females; mean age 22 ± 7.72 years) suspected or diagnosed HH/KS. Genetic...
Gynecomastia in adolescence is a benign condition that mostly disappears spontaneously within approximately two years from onset. When it associated with hypogonadism, may suggest disorder of sexual differentiation. We report the case young man (18 old) gynecomastia azoospermia, small testes, hyperestrogenism and hypergonadotropic hypogonadism. A karyotype 46,XX was found, searching for SRY (sex-determining region Y) by fluorescence situ hybridization (FISH) highlighted presence gene on...
Loss of function mutations in the PHEX gene could determine X-linked dominant hypophosphatemia. This is most common form genetic rickets. It characterized by renal phosphate wasting determining an increase fibroblast growth factor 23 (FGF-23), retard, bone deformities and musculoskeletal manifestations. In recent decades, analysis has revealed numerous different mutations. However, no clear genotype-phenotype correlations have been reported patients with hypophosphatemic rickets (XLH). We...
Loss-of-function mutations of fibroblast growth factor receptor 1 gene (FGFR1) have been reported so far. These described in the extracellular domain, consisting three Ig-like domains single transmembrane helix and intracellular region, containing a tyrosine kinase domain cause about 10% all cases Kallmann syndrome. FRGR1 could be associated with non reproductive phenotype such as cleft palate dental agenesis wide spectrum phenotype.The patient, 17 years 11 months old, was Bulgarian male...
Adult-onset cases of idiopathic hypogonadotropic hypogonadism (IHH) are characterized by partial or normal puberty development until adolescence and the impairment hypothalamic–pituitary–gonadal (HPG) axis in adulthood. WDR11 DCC genes known to be involved axonal development, particularly hypothalamic GnRH neurons, ciliogenesis. We report a female case adult-onset cerebellar ataxia, which we identified two gene mutations. A panel 48 was set up search for variants causative CHH. The found...
Background Kawasaki disease (KD) is the second most common childhood vasculitis and one of main causes acquired heart in children. Recent work focuses on early diagnostic importance those risk factors that indicate resistance to intravenous immunoglobulin (IVIG) treatment. The objectives this study were identify clinical, laboratory and/or instrumental could be correlated with IVIG applicability standard score systems. Materials Methods We retrospectively reviewed clinical records 23...
We report a case of 19-year-old male referred to the Endocrine Unit because gynecomastia. Initial investigation revealed elevated levels estradiol (E2) along with secondary hypogonadism (hypotestosteronemia and severe oligoasthenoteratozoospermia (OAT)) despite normal testicular volume (12 mL) sexual characteristics. Surprisingly, an ultrasound examination small hypoechoic mass (1.1 cm) intense intralesional vascularization within right testicle, even though tumor markers were normal....