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Novel estrogen receptor-α gene inactivating missense variant in a woman: Therapeutic challenge and long-term follow-up data.
Bone
March 2025
Centre de référence des maladies héréditaires du métabolisme, Hôpital d'enfants, Centre Hospitalier universitaire of Nancy and Faculty of Medicine, Midwifery and Health Professions, Université de Lorraine, F- 54000 Nancy, France; Centre Universitaire d'Enseignement par Simulation - CUESim, Virtual Hospital of Lorraine, Faculty of Medicine, Midwifery and Health Professions, Université de Lorraine, Nancy F- 54000, France; Centre de référence des maladies héréditaires du métabolisme, Hôpital d'enfants, rue Morvan, CHRU de Nancy, F- 54000 Nancy, France; Université de Lorraine, Inserm, DCAC, Nancy, France. Electronic address:
Background: Rare mutations of the ESR1 gene, encoding the estrogen receptor alpha (ERα), have been shown to cause estrogen resistance in humans. Phenotypic features include impaired maturation of epiphyseal cartilage, osteoporosis, and infertility. Clinical phenotype is not well described and the available data reflect inconsistency.
View Article and Find Full Text PDFAssociation of Myo-Inositol and Microlipodispersed Magnesium in Androgen-Dependent Dermatological Diseases: A Retrospective Study.
Pharmaceuticals (Basel)
February 2025
Department of Drug Science and Technology, University of Turin, 10125 Turin, Italy.
Acne is a pathology of the pilosebaceous unit. It is characterized by a highly complex etiopathology which includes inflammation, hyperkeratinization, increased sebum production, colonization of , hyperandrogenemia, and hyperinsulinemia. This condition, together with hirsutism, androgenic alopecia, and acanthosis nigricans, are highly prevalent cutaneous manifestations of the polycystic ovary syndrome (PCOS).
View Article and Find Full Text PDFAcanthosis nigricans and its association with cardio-metabolic risk factors in children with overweight/obesity: A school-based cross-sectional study.
J Family Med Prim Care
January 2025
Department of Pediatrics, AIIMS, Bhubaneswar, Odisha, India.
Background: Acanthosis nigricans (AN) is a common finding often associated with hyperinsulinemia and childhood obesity. There has been a lack of studies evaluating the association of AN with underlying cardio-metabolic risk factors in children and adolescents. Our objective was to study the association between AN and cardio-metabolic risk factors in children with overweight/obesity.
View Article and Find Full Text PDFPrediabetes, undiagnosed T2D, insulin resistance and metabolic syndrome in Guanajuato, Mexico.
Salud Publica Mex
April 2024
Departamento de Endocrinología Pediátrica, Hospital Regional de Alta Especialidad del Bajío. León, Guanajuato, Mexico..
Objective: To evaluate the prevalence of prediabetes (PD), undiagnosed type 2 diabetes (T2D), metabolic syndrome (MetS), and insulin resistance (IR) as well as related risk factors in Mexican population from Guanajuato, Mexico.
Materials And Methods: We performed a cross-sectional study in the Mexican population from León, Guanajuato, Mexico. A clinical and metabolic evaluation was performed with an oral glucose test (OGTT); PD, undiagnosed T2D, MetS, and IR were identified according to international guidelines.
Paraneoplastic Dermatoses: A Clue for Underlying Malignancies.
J Clin Med
February 2025
Unit of Dermatology, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.
Paraneoplastic dermatoses (PDs) belong to a group of rare and polymorphous dermatoses, and they can often be the first sign of underlying malignancies. Therefore, dermatologists should be able to identify skin features to identify earlier underlying neoplasms. Indeed, lack of familiarity with cutaneous clues of internal malignancies can lead to a delay in the diagnosis and an impairment of the prognosis of the patients.
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