Publications by authors named "L Martinerie"
Getting in Sync: When Do Babies' Cortisol Rhythms Start to Tick.
J Clin Endocrinol Metab
January 2025
Endocrine management of transgender and gender diverse adolescents: expert opinion of the ESPE Working Group on Gender Incongruence and the Endo-ERN main thematic group on Sexual Development and Maturation.
Horm Res Paediatr
December 2024
Increasing numbers of transgender and gender diverse adolescents seek endocrine treatment to align their body to their gender identity. In this relatively young field of medicine, there is a limited body of evidence, and the available evidence generally is of low quality. However, in the absence of randomised trials, much can be learned from prospective observational studies.
View Article and Find Full Text PDFArticle Synopsis
- Primary generalized glucocorticoid resistance syndrome (GGRS) is a rare condition linked to a mutation in the NR3C1 gene, specifically a missense variant affecting the Glucocorticoid Receptor's DNA Binding Domain.
- A case study detailed a 59-year-old man with high cortisol levels and a misdiagnosis of Cushing disease, ultimately leading to a correct diagnosis of GGRS at age 68.
- Functional tests on the identified gene variant indicated it had significantly reduced transcriptional activity, emphasizing the need for increased awareness of GGRS to prevent misdiagnosis and harmful treatments.
Introduction: Requests for hormonal transition in minors are increasing. To date, there is no national recommendation to guide these practices in France. Therefore, the SFEDP (French Society of Pediatric Endocrinology and Diabetology) has commissioned a group of experts to draft the first national consensus on this topic.
View Article and Find Full Text PDFClinical profiles and care of transgender children and adolescents who receive specialized consultations: do individuals who are assigned female at birth differ?
Child Adolesc Psychiatry Ment Health
November 2024
Article Synopsis
- * A study at France's largest gender identity clinic included 239 youths, with findings indicating high rates of gender incongruence, mental health issues, and a greater prevalence of social transitions among AFAB youths.
- * The data suggests that age at referral is crucial for understanding gender incongruence, revealing significant challenges faced by these youths, especially AFAB individuals, including higher instances of depression, anxiety, and school drop-out rates.