A5085311985- Pituitary Gland Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Diabetes Management and Research
- Electrolyte and hormonal disorders
- Adrenal Hormones and Disorders
- Diabetes and associated disorders
- Adrenal and Paraganglionic Tumors
- Genomics and Rare Diseases
- Silymarin and Mushroom Poisoning
- Sexual Differentiation and Disorders
- Genetic factors in colorectal cancer
- Hypothalamic control of reproductive hormones
- Psychedelics and Drug Studies
- Ovarian function and disorders
- Pancreatic function and diabetes
- Pregnancy and Medication Impact
- RNA modifications and cancer
- Skin and Cellular Biology Research
- Vitamin D Research Studies
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Family Support in Illness
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Electroconvulsive Therapy Studies
- COVID-19 and healthcare impacts
- Poisoning and overdose treatments
Assistance Publique Hôpitaux de Marseille
2020-2024
Hôpital de la Timone
2011-2023
Inserm
2021-2023
Aix-Marseille Université
2014-2021
Centre de Recherche en Neurobiologie - Neurophysiologie de Marseille
2014-2017
Centre National de la Recherche Scientifique
2014-2017
Abstract Context The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non‐acquired hypopituitarism. Aims To describe main phenotype patterns their evolution through life. Design Patients were screened according to for coding sequence variations in 8 genes: HESX1, LHX3, LHX4, PROP1, POU1F1, TBX19, OTX2 PROKR2 . Results Among 1213 patients (1143 index cases), the age diagnosis hypopituitarism was congenital (24%), childhood (28%), at puberty (32%),...
Polyuria-polydipsia syndrome (PPS) is a common presentation in children but the differential diagnosis rests on burdensome water deprivation tests. The aims of this study were to determine copeptin threshold distinguish patients with central diabetes insipidus from those primary polydipsia and estimate normal range concentrations children.Single-centre retrospective descriptive study.Two hundred seventy-eight aged 2 months 18 years who consulted for PPS (N = 40) or other reasons (control...
Abstract Background Prolactinomas represent 46%-66% of pituitary adenomas, but the prevalence germline mutations is largely unknown. We present here first study focusing on hereditary predisposition to prolactinoma. Objective studied in a large cohort patients with isolated prolactinomas. Materials and methods A retrospective was performed combining genetic clinical data from referred for testing MEN1, AIP, CDKN1B between 2003 2020. SF3B1 Sanger sequenced genetically negative patients....
New technologies for the management of children with type 1 diabete (T1D) are constantly and rapidly evolving. However, few real-life studies have been conducted, rarely in youngest patients (<6 years). To study parental satisfaction continuous flash glucose monitoring devices young T1D. A questionnaire was completed by parents 114 under age 6 years T1D treated an insulin pump followed-up one hospitals French ADIM network between January July 2020. One hundred nine (96 %) were equipped a...
Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between studies. We hypothesized that molecular NGS would depend on severity CH.Targeted was performed 103 CH-GIS patients from French national screening program referred Reference Center for Rare Thyroid Diseases Angers University Hospital. custom panel contained 48 genes....
Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based these data, diagnostic yield was higher gland-in-situ, than thyroid dysgenesis. Further studies performed NGS only excluding dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication Levaillant et al. is so far largest genetic study gland-in-situ comparing for first time disease severity hypothyroidism.