A5089081683- Growth Hormone and Insulin-like Growth Factors
- Genetic Syndromes and Imprinting
- Sexual Differentiation and Disorders
- Pituitary Gland Disorders and Treatments
- Childhood Cancer Survivors' Quality of Life
- Prenatal Screening and Diagnostics
- Connective tissue disorders research
- Adolescent and Pediatric Healthcare
- Glioma Diagnosis and Treatment
- Adrenal and Paraganglionic Tumors
- Hormonal and reproductive studies
- Adrenal Hormones and Disorders
- Genetics and Neurodevelopmental Disorders
- Bone health and treatments
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Metabolism and Genetic Disorders
- Autoimmune and Inflammatory Disorders Research
- Hormonal Regulation and Hypertension
- Hypothalamic control of reproductive hormones
- Urologic and reproductive health conditions
- Acute Lymphoblastic Leukemia research
- Dermatological and Skeletal Disorders
- Neuroscience of respiration and sleep
- Epigenetics and DNA Methylation
- Testicular diseases and treatments
Hôpital Necker-Enfants Malades
2016-2025
Assistance Publique – Hôpitaux de Paris
2013-2025
Universidade de Fortaleza
2021-2022
Université Paris Cité
1999-2020
Sorbonne Paris Cité
2013-2018
Délégation Paris 5
1999-2013
Fondation pour l’innovation en Cadiométabolisme et Nutrition
2013
Inserm
2006-2010
Hôpital des Enfants
2008
Université Claude Bernard Lyon 1
2006
Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, frequent body asymmetry, spares cranial growth. Maternal uniparental disomy for chromosome 7 (mUPD7) is found in 5-10% of cases. We identified loss methylation (LOM) 11p15 Imprinting Center Region 1 (ICR1) domain (including IGF-II) as a mechanism leading to RSS.The aim was screen epimutation mUPD7 RSS non-RSS small-for-gestational-age (SGA) patients identify...
Cryopyrin-associated periodic syndromes (CAPS) are a group of rare autoinflammatory diseases. Neonatal-onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) is the most severe phenotype, with fever, rash, manifestations, and neurologic neurosensory involvement. CAPS caused by mutations in CIAS1, gene encoding NLRP3, which plays critical role interleukin-1 (IL-1) processing. Anakinra, an IL-1 receptor antagonist, has been...
Craniopharyngioma is a brain tumor whose high local recurrence rate has for long time led to preference extensive surgery. Limited surgery minimizing hypothalamic damage may decrease the severe obesity at expense of need radiotherapy complete treatment.We compared weight gain and rates after resection (ERS) hypothalamus-sparing (HSS).Our observational study historical cohort managed with ERS between 1985 2002 prospective HSS 2010.The patients were treated in pediatric teaching hospital...
The skeletal dysplasia characteristic of acrodysostosis resembles the Albright's hereditary osteodystrophy seen in patients with pseudohypoparathyroidism type 1a, but defects α-stimulatory subunit G-protein (GNAS), cause are not present acrodysostosis. We report a germ-line mutation gene encoding PRKAR1A, cyclic AMP (cAMP)-dependent regulatory protein kinase A, three unrelated and resistance to multiple hormones. mutated impairs A response stimulation by cAMP; this explains our patients'...
Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding cationic amino-acids transporter subunit y+LAT1. The characterised by protein-rich food with secondary urea cycle disorder, but symptoms are heterogeneous ranging infiltrative lung disease, kidney failure to auto-immune complications. This retrospective study of all cases treated at Necker Hospital (Paris, France) since 1977 describes LPI both children and...
Context: CHARGE (coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or hearing loss defect) syndrome consists of a combination congenital malformations including hypoplasia growth.
Abstract Background In the last 20 years, substantial improvements have been made in diagnosis, treatment and management of patients with Prader-Willi syndrome (PWS). Few data on causes death are available since those were made. Our study assessed among French PWS over first 11 years experience nationwide Reference Center for (FRC-PWS). Methods relied two sources mortality information at national level between 2004 2014: The Epidemiological Centre Medical Causes Death (CépiDc) Registry...
RTHα is a recently discovered resistance to thyroid hormone (RTH) due mutation of THRA, the gene encoding TRα1, receptor. It has been described in few patients with growth retardation, short stature, and low free T4/free T3 (FT4/FT3) ratio.A 27-year-old patient presenting dwarfism FT4/FT3 ratio was investigated.Clinical, biochemical, radiological data were collected. Whole exome sequencing performed her relatives.The exhibited congenital macrocytic anemia severe bone malformation dwarfism,...
Abstract Androgen insensitivity syndrome (AIS) is caused by numerous mutations of the androgen receptor (AR) gene. The phenotype may range from partial AIS (PAIS) with ambiguous genitalia to complete (CAIS) female genitalia. In 70% cases, AR are transmitted in an X-linked recessive manner through carrier mothers, but 30%, arise de novo. When novo occur after zygotic stage, they result somatic mosaicisms, which important consideration for both virilization later life—because mutant and...
The detection of pituitary stalk interruption syndrome (PSIS) by magnetic resonance imaging is a diagnostic marker permanent GH deficiency (GHD), but the pathogenesis PSIS unknown. Fifty-one patients (27 males) with GHD and were classified according to whether was isolated (group 1, 16 cases) or associated other anterior abnormalities 2, 35 cases). 2 groups had similar characteristics (frequencies perinatal abnormalities, ages at occurrence first signs diagnosis, height, peak response...
Conflicting results exist regarding bone mineral density (BMD), metabolism and reproductive function of adult patients with congenital adrenal hyperplasia (CAH). We evaluated the long-term outcome impact chronic glucocorticoid replacement in these patients.Physical characteristics, serum hormone concentrations, BMD were studied 45 consecutive CAH patients.Among 36 women, only 14 (39%) had regular menses. Among 27 women classical CAH, mean number surgical reconstructions virilized genitalia...
The phenotype of congenital adrenal hyperplasia (CAH) varies greatly. purpose this study was to optimize diagnosis and follow-up by comparing with genotype. Sixty-eight patients CAH due 21-hydroxylase deficiency were studied clinical, hormonal, molecular genetic methods. Patients classified according predicted mutation severity: group 0, null (17.6%); A, homozygous for IVS2 splice or compound heterozygous mutations (33.8%); B, I172N (14.7%); C, V281L P30L (26.5%); D, unknown enzyme activity...
Our goals were to determine the prevalence and estimate evolution of spinal deformities in patients suffering from Prader-Willi syndrome; find out which kind spine deformity predominates regarding genotype clinical patterns; evaluate affect growth-hormone treatment on onset progression deformities.This was a retrospective longitudinal, clinical, radiologic study. One hundred forty-five children followed between 1980 2006 studied 2 referral centers for syndrome. Genetic testing confirmed...
Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism paternally inherited. Progressive osseous heteroplasia (POH) is a rare disease of ectopic bone formation, studies in different families have shown that POH also caused by mutations.Our purpose was characterize parental origin the mutated allele de novo cases draw phenotype/genotype correlations according maternal or paternal transmission...
Children with Prader-Willi syndrome (PWS) who receive GH treatment have improved growth and body composition; however, data are lacking for adults when is discontinued after completion of growth.Our aim was to compare composition metabolic status in PWS according childhood adolescence.64 (mean age: 25.4 years) a genetic diagnosis were evaluated: 20 received (T), which had been at the time this study, 44 did not (C). Mean duration T group 4.4 ± 2.7 years, age baseline 11.8 mean between end...
Abstract Prader–Willi Syndrome (PWS) is a rare genetic syndrome leading to severe behavioural disorders and mild cognitive impairment. The objective of this double-blind randomised placebo-controlled trial was study the efficacy tolerance topiramate on in patients with PWS. Participants (aged 12–45 years) had genetically confirmed PWS irritability/impulsivity, eating and/or obesity, skin picking. Thirty-two participants received placebo (PBO), 30 (TOP) (50–200 mg/day) for 8 weeks. primary...
Abstract Background The current development of gynecology services for children and adolescents seeks to meet needs both in the overall population patients with rare diseases. In France, referral center gynecological diseases specializes four major types conditions, namely, uterovaginal malformations, hereditary hemorrhagic diseases, benign breast repercussions chronic Objective To describe consecutive who had a first visit 2018–2023 at Necker Pediatric University Hospital Paris, were...
Purpose: ACTH-independent Cushing’s syndrome (CS) is a rare cause of pediatric CS. Our objective was to describe the features CS and compare groups defined by etiology. Methods: We conducted retrospective observational study patients aged 0–18 years at diagnosis between 1992–2022 for in three Paris hospitals. Additionally, we compared outcomes McCune-Albright (MCAS) with without Results: Of 15 CS, seven had MCAS, primary pigmented nodular adrenocortical disease (PPNAD) as part CNC (Carney...
Objective To elucidate the molecular cause in a well-characterized cohort of patients with Congenital Hypothyroidism (CH) and Dyshormonogenesis (DH) by using targeted next-generation sequencing (TNGS). Study design We studied 19 diagnosed CH DH NGS including genes involved thyroid hormone production. The pathogenicity novel mutations was assessed based on silico prediction tool results, functional studies when possible, variant location important protein domains, review recent literature....