Tristan Avril
Tristan Avril
Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
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Quentin Hennocq
Quentin Hennocq
Datascience platform, Imagine Institute, Université Paris Cité, Paris, France
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Anne-Sophie Lambert
Anne-Sophie Lambert
Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
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Juliane Leger
Juliane Leger
Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
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Dominique Simon
Dominique Simon
Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
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Laetitia Martinerie
Laetitia Martinerie
Pediatric Endocrinology Department, CHU Robert Debré, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR de la Croissance et du Développement, Paris, France
Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
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Claire Bouvattier
Claire Bouvattier
Pediatric Endocrinology Department, CHU Bicetre, Assistance Publique-Hôpitaux de Paris, Reference Center for Rare Disease CRMR DevGen, Le Kremlin Bicêtre, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France
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Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France
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failure and infertility. Mini-puberty is a period of neonatal life which corresponds to an early and transient activation of the gonadotropic axis. Several studies have shown that this period is crucial for the early proliferation of Leydig and Sertoli
Alan D Rogol
Alan D Rogol
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
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axis at level of ovary) Increased incidence of autoimmunity ↑LH, FSH to GnRH stimulation 47,XXY Tall stature (onset may be in mid-childhood) Mini-puberty-contradictory results Childhood-↑INH B; Accelerated germ cell loss at
Rohit Barnabas
Rohit Barnabas
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India
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Swati Jadhav
Swati Jadhav
Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, India
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Anurag Ranjan Lila
Anurag Ranjan Lila
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India
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Sirisha Kusuma Boddu
Sirisha Kusuma Boddu
Consultant Pediatric Endocrinology & Diabetes, Rainbow Children’s Hospital, Hyderabad, India
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Saba Samad Memon
Saba Samad Memon
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India
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Sneha Arya
Sneha Arya
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India
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Samiksha Chandrashekhar Hegishte
Samiksha Chandrashekhar Hegishte
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India
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Manjiri Karlekar
Manjiri Karlekar
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India
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Virendra A Patil
Virendra A Patil
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India
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Vijaya Sarathi
Vijaya Sarathi
Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Centre, Bengaluru, India
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Nalini S Shah
Nalini S Shah
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India
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Tushar Bandgar
Tushar Bandgar
Department of Endocrinology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India
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/56) presented in mini/pre-pubertal ages (age ≤ 9 years). In pubertal/post-pubertal aged cohort, all patients ( n = 33, data not available for four patients) presented with delayed puberty/primary amenorrhea. Most patients (22/24) had absent thelarche except
Estelle Bonnet
Estelle Bonnet
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
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Mathias Winter
Mathias Winter
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de psychopathologie du développement, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de psychopathologie du développement, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France
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Delphine Mallet
Delphine Mallet
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France
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Ingrid Plotton
Ingrid Plotton
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service Endocrinologie Moléculaire et Maladies Rares, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service Endocrinologie Moléculaire et Maladies Rares, Bron, France
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Claire Bouvattier
Claire Bouvattier
Centre Hospitalier Universitaire AP-HP, Hôpital Bicêtre, Service d’endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, France
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Maryse Cartigny
Maryse Cartigny
Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Unité d’Endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France
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Laetiti Martinerie
Laetiti Martinerie
Centre Hospitalier Universitaire AP-HP, Hôpital Robert Debré, Service d’Endocrinologie pédiatrique Centre de Référence des Maladies Rares Endocriniennes de la Croissance et du Développement – CRMERC Université de Paris, Paris, France
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Michel Polak
Michel Polak
Centre Hospitalier Universitaire AP-HP, Hôpital universitaire Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement Inserm U1016, institut Imagine, Paris, France
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Anne Bachelot
Anne Bachelot
Centre Hospitalier Universitaire AP-HP, Hôpital Pitié Salpêtrière, Department of Endocrinology and Reproductive Medicine Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement Centre de Référence des pathologies gynécologiques rares IE3M, Paris, France
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Frédéric Huet
Frédéric Huet
Centre Hospitalier Universitaire Dijon-Bourgogne, Hôpital d’Enfants, Service de Pédiatrie Multidisciplinaire, Dijon, France
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Sabine Baron
Sabine Baron
Centre Hospitalier universitaire de Nantes, Hôpital Mère-Enfant, Service de Pédiatrie, Nantes, France
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Muriel Houang
Muriel Houang
Centre Hospitalier Universitaire AP-HP, Hôpital Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, Paris, France
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Sylvie Soskin
Sylvie Soskin
Hôpitaux Universitaires de Strasbourg, CHU Hautepierre, Service de Pédiatrie 1, Strasbourg, France
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Anne Lienhardt
Anne Lienhardt
Centre hospitalier universitaire Limoges, Hôpital de la Mère et de l’enfant, Service de Pédiatrie, Limoges, France
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Jérôme Bertherat
Jérôme Bertherat
Groupement Hospitalier Universitaire de Paris, AP-HP, Hôpital Cochin, Service d'Endocrinologie, Paris, France
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Cyril Amouroux
Cyril Amouroux
Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Montpellier, France
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Aurore Bouty
Aurore Bouty
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
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Lise Duranteau
Lise Duranteau
AP-HP, Hôpital Bicêtre, Unité de gynécologie de l’adolescente Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, France
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Rémi Besson
Rémi Besson
Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de chirurgie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France
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Alaa El Ghoneimi
Alaa El Ghoneimi
Centre Hospitalier Universitaire AP-HP Robert Debré, Service de Chirurgie Viscérale et Urologie pédiatrique Centre de Référence des Maladies Endocriniennes de la croissance et du développement – CRMERC Université de Paris, Paris, France
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Dinane Samara-Boustani
Dinane Samara-Boustani
Centre Hospitalier Universitaire AP-HP, Hôpital Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement, Paris, France
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François Becmeur
François Becmeur
Hospitaux Universitaires de Strasbourg, CHU Hautepierre, Service de chirurgie pédiatrique, Strasbourg, France
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Nicolas Kalfa
Nicolas Kalfa
Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Chirurgie Viscérale et Urologie Pédiatrique Centre National de Référence Maladies Rares du Développement Génital Constitutif Sud Institut Debrest de Santé Publique IDESP, UMR INSERM, Université de Montpellier, Montpellier, France
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Françoise Paris
Françoise Paris
Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Montpellier, France
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François Medjkane
François Medjkane
Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de psychiatrie de l’enfant et de l’adolescent Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France
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Aude Brac de la Perrière
Aude Brac de la Perrière
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Groupement Hospitalier Est, Service d’endocrinologie, Bron, France
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Hospices Civils de Lyon, Groupement Hospitalier Est, Service d’endocrinologie, Bron, France
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Patricia Bretones
Patricia Bretones
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
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Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
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Hervé Lejeune
Hervé Lejeune
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de médecine de la reproduction, Bron, France
Université Claude Bernard, Lyon, France
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Université Claude Bernard, Lyon, France
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Marc Nicolino
Marc Nicolino
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Université Claude Bernard, Lyon, France
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Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Université Claude Bernard, Lyon, France
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Pierre Mouriquand
Pierre Mouriquand
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
Université Claude Bernard, Lyon, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
Université Claude Bernard, Lyon, France
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Daniela-Brindusa Gorduza
Daniela-Brindusa Gorduza
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
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Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
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Claire-Lise Gay
Claire-Lise Gay
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
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Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
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available for 68% ( n = 21) of patients. The median (range) baseline testosterone/DHT ratio was 8.8 (4.5–26.5). Among the 21 baseline ratios, 33% ( n = 7) were greater than 20, and among the 12 ratios established during mini-puberty, 75% ( n = 9) were
Veronica Astro
Veronica Astro
Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia
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Elisabetta Fiacco
Elisabetta Fiacco
Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia
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Kelly Johanna Cardona-Londoño
Kelly Johanna Cardona-Londoño
Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia
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Ilario De Toma
Ilario De Toma
Sequentia Biotech SL, Barcelona, Spain
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Hams Saeed Alzahrani
Hams Saeed Alzahrani
Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
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Jumana Alama
Jumana Alama
Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia
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Amal Kokandi
Amal Kokandi
Department of Dermatology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
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Taha Abo-Almagd Abdel-Meguid Hamoda
Taha Abo-Almagd Abdel-Meguid Hamoda
Department of Urology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
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Majed Felemban
Majed Felemban
Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia
Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
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Center of Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
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Antonio Adamo
Antonio Adamo
Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia
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disabilities, and micropenis are KS signs at puberty. Gynecomastia, increased body mass, and low or absent sperm count, eventually leading to infertility, are commonly diagnosed in adult KS males ( 6 , 7 , 8 ). In addition, KS patients are at higher risk of
