HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF.

Autor: Xekouki, P., Konstantinidou, A., Tatsi, C., Sertedaki, A., Settas, N., Loutradis, D., Chrousos, G. P., Kanaka-Gantenbein, C., Dacou-Voutetakis, C., Voutetakis, A.

Publikováno v: Hormones; Jun2024, Vol. 23 Issue 2, p345-350, 6p

FAF1 Gene Involvement in Pituitary Corticotroph Tumors.

Autor: Nguyen M; Unit on Hypothalamic and Pituitary Disorders, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, United States., Maria AG; Section on Molecular Dysmorphology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, United States., Faucz FR; Molecular Genomics Core (MGC), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, United States., Trivellin G; Department of Biomedical Sciences, Humanitas University, Pieve Emanuele - Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano - Milan, Italy., Stratakis CA; Unit on Hypothalamic and Pituitary Disorders, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, United States.; Human Genetics and Precision Medicine, IMBB, Heraklion, Greece.; Research and Training, ELPEN Pharmaceuticals, Pikermi Attikis, Greece., Tatsi C; Unit on Hypothalamic and Pituitary Disorders, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, United States.

Publikováno v: Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme [Horm Metab Res] 2024 Aug; Vol. 56 (8), pp. 604-610. Date of Electronic Publication: 2023 Dec 08.

The spectrum of growth hormone excess in Carney complex and genotype-phenotype correlations.

Autor: Tatsi C; Unit on Hypothalamic and Pituitary Disorders, Eunice Kennedy Shriver National Institute of Child Health, and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Pitsava G; Unit on Hypothalamic and Pituitary Disorders, Eunice Kennedy Shriver National Institute of Child Health, and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Faucz FR; Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA., Keil M; Office of the Clinical Director, Eunice Kennedy Shriver National Institute of Child Health, and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA., Stratakis CA; Unit on Hypothalamic and Pituitary Disorders, Eunice Kennedy Shriver National Institute of Child Health, and Human Development, National Institutes of Health, Bethesda, Maryland, USA.; Human Genetics & Precision Medicine, IMBB, FORTH, Heraklion, Greece.; Medical Genetics, H. Dunant Hospital, Athens, Greece.; ELPEN Research Institute, Athens, Greece.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2024 Apr 13. Date of Electronic Publication: 2024 Apr 13.

Paediatric Cushing syndrome: a prospective, multisite, observational cohort study.

Autor: Tatsi C; Unit on Hypothalamic and Pituitary Disorders, National Institutes of Health, Bethesda, MD, USA. Electronic address: christina.tatsi3@nih.gov., Kamilaris C; Unit on Hypothalamic and Pituitary Disorders, National Institutes of Health, Bethesda, MD, USA., Keil M; Office of the Clinical Director, National Institutes of Health, Bethesda, MD, USA., Saidkhodjaeva L; Unit on Hypothalamic and Pituitary Disorders, National Institutes of Health, Bethesda, MD, USA., Faucz FR; Molecular Genomics Core, National Institutes of Health, Bethesda, MD, USA., Chittiboina P; Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Neurosurgery Unit for Pituitary and Inheritable Diseases, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Stratakis CA; Unit on Hypothalamic and Pituitary Disorders, National Institutes of Health, Bethesda, MD, USA; Human Genetics & Precision Medicine, Foundation for Research & Technology Hellas, Heraklion, Greece.

Publikováno v: The Lancet. Child & adolescent health [Lancet Child Adolesc Health] 2024 Jan; Vol. 8 (1), pp. 51-62.

Diurnal Range and Intra-patient Variability of ACTH Is Restored With Remission in Cushing's Disease.

Autor: Alvarez R; Neurosurgery Unit for Pituitary and Inheritable Diseases, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.; Department of Neurosurgery, University of Colorado Anschutz Medical Campus School of Medicine, Aurora, CO, USA.; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA., Hogan E; Neurosurgery Unit for Pituitary and Inheritable Diseases, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.; Department of Neurosurgery, University of Colorado Anschutz Medical Campus School of Medicine, Aurora, CO, USA., Asuzu DT; Neurosurgery Unit for Pituitary and Inheritable Diseases, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.; Department of Neurosurgery, University of Virginia, Charlottesville, VA, USA., Wu T; Clinical Trials Unit, National Institute of Neurological Diseases and Stroke, Bethesda, MD, USA., Oshegbo G; Biomedical Translational Research Information System, Clinical Center, National Institutes of Health, Bethesda, MD, USA., McGlotten R; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Cortes M; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA., Hayes C; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA., Stratakis CA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Tatsi C; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Nieman LK; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA., Chittiboina P; Neurosurgery Unit for Pituitary and Inheritable Diseases, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2023 Oct 18; Vol. 108 (11), pp. 2812-2820.