Publications by authors named "Paraskevi Xekouki"

47Publications

A novel mutation in the glucocorticoid receptor gene as a cause of severe glucocorticoid resistance complicated by hypertensive encephalopathy.

J Hypertens 2019 07;37(7):1475-1481

Section on Genetics and Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland.

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July 2019

Homeostatic and tumourigenic activity of SOX2+ pituitary stem cells is controlled by the LATS/YAP/TAZ cascade.

Elife 2019 03 26;8. Epub 2019 Mar 26.

Centre for Craniofacial and Regenerative Biology, Faculty of Dentistry, Oral & Craniofacial Sciences, King's College London, London, United Kingdom.

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March 2019

The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Horm Metab Res 2019 Jul 1;51(7):419-436. Epub 2018 Oct 1.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

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July 2019

Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects.

Eur Thyroid J 2016 Jul 10;5(2):94-9. Epub 2016 Mar 10.

Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences (PPGCS), School of Medicine (EM), Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Brazil; Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics (PDEGEN) and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Md., USA.

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July 2016

Bilateral Adrenal Hyperplasia as a Possible Mechanism for Hyperandrogenism in Women With Polycystic Ovary Syndrome.

J Clin Endocrinol Metab 2016 09 23;101(9):3353-60. Epub 2016 Jun 23.

Section on Endocrinology and Genetics (E.G., M.L., M.K., C.L., M.N., M.S., P.X., C.A.S.), and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, and Department of Radiology (E.T.), Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Division of Pediatric Endocrinology (E.G.), Georgetown University Medical Center, Washington, DC 20007; Biostatistics and Clinical Epidemiology Service (N.S.), National Institutes of Health Clinical Center, Bethesda, MD; Division of Pediatric Endocrinology (D.K., S.T.), Infants and Children's Hospital of Brooklyn at Maimonides and Children and Hospital at Downstate, State University of New York, Brooklyn, New York 11219. and Department of Endocrinology (A.D.), Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.

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September 2016

Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion.

Clin Endocrinol (Oxf) 2016 Dec 12;85(6):845-851. Epub 2016 Jul 12.

Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, 'Aghia Sophia' Children's Hospital, Athens, Greece.

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December 2016

Rapidly Growing Chest Wall Mass in a Case of Sporadic Metastatic Paraganglioma: Imaging With 4 Different PET Radiopharmaceuticals.

Clin Nucl Med 2016 May;41(5):399-400

From the *Program in Adult and Reproductive Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, †Nuclear Medicine Division, Radiology and Imaging Sciences, Warren Grant Magnuson Clinical Center, and ‡Positron Emission Tomography Department, National Institutes of Health Clinical Center, National Institutes of Health; and §Center for Cancer Research, National Cancer Institute, Thoracic and Gastrointestinal Oncology Branch, Bethesda, MD.

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May 2016

Rare inactivating PDE11A variants associated with testicular germ cell tumors.

Endocr Relat Cancer 2015 Dec;22(6):909-17

Clinical Genetics BranchDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USAProgram on Developmental Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USACancer Genomics Research LaboratoryDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland, USAPerelman School of MedicineAbramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USAGenetic Epidemiology BranchHormonal and Reproductive Epidemiology BranchDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Room 6E422, Rockville, Maryland 20850, USA

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December 2015

Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.

Eur J Hum Genet 2016 Apr 15;24(4):569-73. Epub 2015 Jul 15.

Section on Endocrinology and Genetics (SEGEN), Program on Developmental Endocrinology and Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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April 2016

The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia.

Eur J Endocrinol 2015 Oct 10;173(4):435-40. Epub 2015 Jul 10.

Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USADepartment of Radiology and Imaging SciencesNational Institutes of Health (NIH), Clinical Center, Bethesda, Maryland 20892, USADepartment of EndocrinologyMetabolism, and Diabetes, Institut National de la Santé et de la Recherche Médicale (INSERM) Unit 1016, Institut Cochin, Centre National de la Recherche Scientifique (CNRS) UMR 8104, 75014 Paris, FranceGroup for Advanced Molecular InvestigationGraduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba, Paraná, Brazil.

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October 2015

Primary Aldosteronism and ARMC5 Variants.

J Clin Endocrinol Metab 2015 Jun 30;100(6):E900-9. Epub 2015 Mar 30.

Section on Endocrinology and Genetics (M.Z., P.X., F.R.F., A.B., A.G., M.H.S.-R., M.B., S.B.A., S.E., M.B.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Biostatistics and Clinical Epidemiology Service (N.S.), Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Laboratory of Pathology (M.M.Q., M.M.), Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892; Department of Pediatrics (A.H.), University Hospitals Case Medical Center, Rainbow Babies and Children's Hospital, Cleveland, Ohio 44106; Cardiovascular Disease Section (R.L., G.A., L.D., B.R.), Genomics of Metabolic, Cardiovascular, and Inflammatory Disease Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892; Department of Endocrinology, Metabolism, and Diabetes (A.D., S.Y.G., R.N., J.B.), Inserm Unit 1016, Centre National de la Recherche Scientifique UMR 8104, Institut Cochin, 75014 Paris, France; and Endocrine Oncology Branch (E.K.), National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892.

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June 2015

Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice.

J Clin Endocrinol Metab 2015 May 19;100(5):E710-9. Epub 2015 Feb 19.

Section on Endocrinology and Genetics (P.X., E.S., S.A.M., P.M., M.R., N.R., M.d.L.L.S., C.L., E.B., M.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Section on Medical Neuroendocrinology (P.B., A.G.), Program in Reproductive and Adult Endocrinology, Section on Molecular Dysmorphology (C.A.W., A.C.), Program in Developmental Endocrinology and Genetics, Microscopy and Imaging Core (L.D.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Laboratory of Pathology (A.G., M.Q., K.P.), National Cancer Institute, and Biostatistics and Clinical Epidemiology Service (D.K.), Clinical Center, National Institutes of Health, Bethesda, Maryland 20892; Department of Endocrinology (C.M.), University of Connecticut Health Center, Farmington, Connecticut 06030; Genomic Medicine Institute (J.M., C.E.), Cleveland Clinic, Cleveland, Ohio 44195; Department of Biochemistry and Molecular Biology (L.J.M.), Mayo Clinic College of Medicine, Rochester, Minnesota 55905; and Department of Molecular Medicine (P.B.), Institute of Virology, Slovak Academy of Sciences, 833 06 Bratislava, Slovakia.

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May 2015

Is IGSF1 involved in human pituitary tumor formation?

Endocr Relat Cancer 2015 Feb 19;22(1):47-54. Epub 2014 Dec 19.

Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USAGroup for Advanced Molecular InvestigationGraduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba 80215, BrazilDepartment of Pharmacology and TherapeuticsMcGill University, Montréal, Québec, Canada H3G 1Y6Pediatric Endocrinology Inter-institute Training ProgramEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland 20892, USAThe Liggins InstituteUniversity of Auckland, Auckland 1023, New ZealandTaranaki Base HospitalNew Plymouth 4310, New ZealandAuckland City Hospital & Greenlane Clinical CentreAuckland 1142, New ZealandDepartment of NeurosurgeryUniversity of Virginia Health Sciences Center, University of Virginia, Charlottesville, Virginia 22904, USASurgical Neurology BranchNational Institute for Neurological Diseases and Stroke (NINDS), National Institutes of Health, Bethesda, Maryland 20892, USA Departments ofEndocrinology and Metabolic DisordersPediatricsLeiden University Medical Center, Leiden 2333, The Netherlands Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USAGroup for Advanced Molecular InvestigationGraduate Program in Health Science, Medical School, Pontificia Universidade Catolica do Paraná, Curitiba 80215, BrazilDepartment of Pharmacology and TherapeuticsMcGill University, Montréal, Québec, Canada H3G 1Y6Pediatric

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February 2015

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort.

J Clin Endocrinol Metab 2015 Mar 12;100(3):E531-41. Epub 2014 Dec 12.

Department of Endocrinology (J.D., U.S., M.D., P.G., W.M.D., M.K.), Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, United Kingdom; Semmelweis University, School of PhD studies, Doctoral School of Clinical Medicine, Budapest, Hungary (J.D.), Endocrinology Directorate (F.S.), Norfolk and Norwich University Hospital, Norwich NR4 7UZ, United Kingdom; Department of Medical and Molecular Genetics (E.R., E.R.M.), University of Birmingham, Birmingham B15 2TT, United Kingdom; Department of Molecular Genetics (K.S., M.O., S.E.), Royal Devon and Exeter National Health Service Foundation Trust, Exeter EX2 5DW, United Kingdom; University of Exeter Medical School (S.E.), Exeter EX4 4PY, United Kingdom; Oxford Medical Genetics Laboratories (T.C.), Oxford University Hospitals National Health Service Trust, The Churchill Hospital, Oxford OX3 7LJ, United Kingdom; Section on Endocrinology and Genetics (P.X., C.A.S.) and Section on Molecular Dysmorphology (C.W.), Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892; Electron Microscopy Unit (L.M.), Department Histopathology, Charing Cross Hospital, Imperial College Healthcare National Health Service Trust, London W6 8RF, United Kingdom; Department of Clinical Genetics (A.K.), Great Ormond Street Hospital, London WC1N 1LE, United Kingdom; Departments of Oncology (N.F.) and Endocrinology (S.E.B.), University College London Hospitals, London WC1E 6BT, United Kingdom; Department of Diabetes and Endocrinology (D.M.), The Ipswich Hospital National Health Service Trust, Ipswich IP4 5PD, United Kingdom; Henry Wellcome Laboratories for Integrative Neuroscience and Endocrinology (S.L.), University of Bristol, Bristol BS1 3NY, United Kingdom; Department of Endocrinology (A.Ag., C.J.T.), Beaumont Hospital, Dublin 9, Ireland; Institute of Molecular and Experimental Medicine (A.R.), Cardiff University, Cardiff CF10 3US, United Kingd

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March 2015

Post-operative growth is different in various forms of pediatric Cushing's syndrome.

Endocr Relat Cancer 2014 25;21(6):L27-31. Epub 2014 Sep 25.

Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN)Bethesda, MarylandUSAPediatric Endocrinology Inter-Institute Training ProgramEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH)Bethesda, Maryland, 20892USADepartment of Pediatric EndocrinologyGeorgetown University School of Medicine3800 Reservoir Road, Washington, District of Columbia, 20007USABiostatistics and Clinical Epidemiology ServiceNational Institutes of Health Clinical CenterBethesda, Maryland, 20982USADepartment of RadiologyNational Institutes of Health Clinical CenterBethesda, Maryland, 20892USA Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics (PDEGEN)Bethesda, MarylandUSAPediatric Endocrinology Inter-Institute Training ProgramEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH)Bethesda, Maryland, 20892USADepartment of Pediatric EndocrinologyGeorgetown University School of Medicine3800 Reservoir Road, Washington, District of Columbia, 20007USABiostatistics and Clinical Epidemiology ServiceNational Institutes of Health Clinical CenterBethesda, Maryland, 20982USADepartment of RadiologyNational Institutes of Health Clinical CenterBethesda, Maryland, 20892USA.

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June 2015

Does somatostatin have a role in the regulation of cortisol secretion in primary pigmented nodular adrenocortical disease (ppnad)? a clinical and in vitro investigation.

J Clin Endocrinol Metab 2014 May 10;99(5):E891-901. Epub 2014 Feb 10.

INSERM Unité 982 (Z.B., E.L., H.L.), Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Institute for Research and Innovation in Biomedicine, University of Rouen, 76821 Rouen, France; Section on Endocrinology and Genetics (P.X., D.A., C.G., M.N., R.C., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Pediatric Endocrinology Inter-Institute Training Program (M.F.K., C.A.S.), National Institute of Child Health and Human Development, National Institutes of Health, and Clinical Center (N.S.), National Institutes of Health, Bethesda, Maryland 20892; Erasmus Medical Center (L.J.H.), 3015 GE Rotterdam, The Netherlands; and Department of Endocrinology (H.L.), Institute for Research and Innovation in Biomedicine, University Hospital of Rouen, 76031 Rouen, France.

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May 2014

Integrated analysis of genome-wide methylation and gene expression shows epigenetic regulation of CYP11B2 in aldosteronomas.

J Clin Endocrinol Metab 2014 Mar 11;99(3):E536-43. Epub 2013 Dec 11.

Endocrine Oncology (B.H., M.J., L.Z., E.K.) and Genetics (Y.W., P.G.M.) Branches, National Cancer Institute, and Section on Endocrinology and Genetics (P.X., F.R.F, C.A.S.), Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

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March 2014

SPECT and 18F-FDG PET/CT imaging of multiple paragangliomas and a growth hormone-producing pituitary adenoma as phenotypes from a novel succinate dehydrogenase subunit D mutation.

Clin Nucl Med 2014 Jan;39(1):81-3

From the *Department of Nuclear Medicine, Evangelismos General Hospital, Athens, Greece; †Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD; and ‡Division of Endocrinology and Metabolism, Hippocrateion General Hospital, Athens, Greece.

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January 2014

Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition.

J Clin Endocrinol Metab 2013 Aug 14;98(8):E1393-400. Epub 2013 Jun 14.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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August 2013

Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects?

Endocr Relat Cancer 2012 Dec 30;19(6):C33-40. Epub 2012 Oct 30.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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December 2012

A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.

J Clin Endocrinol Metab 2012 Aug 24;97(8):E1532-9. Epub 2012 May 24.

Division of Endocrinology, First Department of Pediatrics, University of Athens Medical School, Aghia Sophia Children's Hospital, Athens 11527, Greece.

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August 2012

Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.

J Pediatr Endocrinol Metab 2012 ;25(1-2):213-9

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD 20892, USA.

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May 2012

Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented.

J Stroke Cerebrovasc Dis 2012 Nov 15;21(8):914.e1-8. Epub 2012 Feb 15.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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November 2012

Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.

J Clin Endocrinol Metab 2012 Apr 18;97(4):E687-93. Epub 2012 Jan 18.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA.

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April 2012

Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?

J Clin Endocrinol Metab 2012 Mar 14;97(3):E357-66. Epub 2011 Dec 14.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA.

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March 2012

Myxoma of the ear lobe in a 23-month-old girl with Carney complex.

J Cutan Pathol 2012 Jan 1;39(1):68-71. Epub 2011 Sep 1.

Section on Endocrinology & Genetics, Program on Developmental Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, MD, USA.

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January 2012

Functional imaging of SDHx-related head and neck paragangliomas: comparison of 18F-fluorodihydroxyphenylalanine, 18F-fluorodopamine, 18F-fluoro-2-deoxy-D-glucose PET, 123I-metaiodobenzylguanidine scintigraphy, and 111In-pentetreotide scintigraphy.

J Clin Endocrinol Metab 2011 Sep 13;96(9):2779-85. Epub 2011 Jul 13.

Reproductive and Adult Endocrinology Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, National Institutes of Health, Bethesda, Maryland 20892, USA.

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September 2011

Anterior pituitary adenomas: inherited syndromes, novel genes and molecular pathways.

Expert Rev Endocrinol Metab 2010 Sep;5(5):697-709

SEGEN, PDEGEN & Pediatric Endocrinology Program, NICHD, NIH, Building 10, CRC (East Laboratories), Room 1-3330, 10 Center Drive, MSC1103, Bethesda, MD 20892, USA.

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September 2010

An unusual presentation of pediatric Cushing disease: recurrent corticotropinoma of the posterior pituitary lobe.

J Pediatr Endocrinol Metab 2010 Jun;23(6):607-12

Section on Endocrinology and Genetics, Program on Developmental Endocrinology Genetics (PDEGEN), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

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June 2010

Glucose dysregulation in obese children: predictive, risk, and potential protective factors.

Obesity (Silver Spring) 2007 Apr;15(4):860-9

Endocrine Unit, Department of Pediatrics, Athens University School of Medicine, Aghia Sophia Children's Hospital, Thivon and Levadias, 115 27, Athens, Greece.

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April 2007

Spontaneous pregnancy and birth of a normal female from a woman with Turner syndrome and elevated gonadotropins.

Fertil Steril 2005 Mar;83(3):769-72

Endocrine Unit, First Pediatric Department, Athens University School of Medicine, and Agia Sophia Children's Hospital, Thivon & Livadias, Athens, Greece.

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March 2005