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Lisette van Alewijk Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Kirsten Davidse Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Karlijn Pellikaan Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Judith van Eck Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands

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Anita C S Hokken-Koelega Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
Dutch Growth Research Foundation, Rotterdam, the Netherlands

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Theo C J Sas Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands

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Sabine Hannema Department of Paediatrics, Subdivision of Endocrinology, Erasmus University Medical Centre, Rotterdam, the Netherlands
Department of Paediatric Endocrinology, Leiden University Medical Centre, Leiden, the Netherlands

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Aart J van der Lely Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands

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Laura C G de Graaff Internal Medicine, Division of Endocrinology, Erasmus MC, University Medical Centre Rotterdam, Rotterdam, the Netherlands
Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands

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pituitary hormone deficiencies ( n  = 7), Klinefelter syndrome ( n  = 6), 46, XY DSD ( n  = 6) and congenital adrenal hyperplasia ( n  = 5) were the most common (see Table 1 for details). Median age of participants was 17 years (IQR 17.0–18.0, range 15

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-20-0304
Volume/Issue:
Volume 10: Issue 4
Open access
M I Stamou Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA

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P Varnavas Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece

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L Plummer Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA

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V Koika Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece

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N A Georgopoulos Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece

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, synkinesia, primary hypothyroidism, neurosensory hearing loss, osteopenia/ osteoporosis, congenital heart defects including coarctation of the aorta and ventricular septal defect (VDS), hematologic/immune disorders such as G6PD and IgA deficiency, cleft lip

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0010
Volume/Issue:
Volume 8: Issue 5
Open access
L M Mongioì Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

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R A Condorelli Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

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S La Vignera Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

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A E Calogero Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

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. Case no. Sex Age (years) Etiology Comorbidities Previous treatment Length of treatment (months) 1 M 23 Congenital adrenal hyperplasia Testicular adrenal tumor rest, obesity, insulin resistance, hyper-trygliceridemia, blood

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0368
Volume/Issue:
Volume 7: Issue 1
Open access
Jin Kyu Oh Department of Urology, College of Medicine, Gachon University, Incheon, Republic of Korea

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Young Jae Im Department of Urology, College of Medicine, Seoul National University, Seoul, Republic of Korea

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Kwanjin Park Department of Urology, College of Medicine, Seoul National University, Seoul, Republic of Korea

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Jae-Seung Paick Department of Urology, College of Medicine, Seoul National University, Seoul, Republic of Korea

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Introduction The term micropenis encompasses a range of congenital and acquired conditions that present as abnormally short penises with a stretched length of more than 2.5 standard deviations ( s.d. ) below the mean for a particular age

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0200
Volume/Issue:
Volume 7: Issue 11
Open access
Lia Ferreira Department of Endocrinology, Centro Hospitalar do Porto, Porto, Portugal

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João Silva Department of Endocrinology, Hospital das Forças Armadas, Lisboa, Portugal

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Susana Garrido Department of Endocrinology, Centro Hospitalar Tâmega e Sousa, Porto, Portugal

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Carlos Bello Department of Endocrinology, Centro Hospitalar Lisboa Ocidental, Lisboa, Portugal

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Diana Oliveira Department of Endocrinology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

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Hélder Simões Department of Endocrinology, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal

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Isabel Paiva Department of Endocrinology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal

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Joana Guimarães Department of Endocrinology, Centro Hospitalar do Baixo Vouga, Aveiro, Portugal

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Marta Ferreira Department of Endocrinology, Centro Hospitalar de Leiria, Leiria, Portugal

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Teresa Pereira Department of Endocrinology, Centro Hospitalar de Leiria, Leiria, Portugal

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Rita Bettencourt-Silva Department of Endocrinology, Centro Hospitalar de São João, Porto, Portugal

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Ana Filipa Martins Department of Endocrinology, Centro Hospitalar Lisboa Norte, Lisboa, Portugal

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Tiago Silva Department of Endocrinology, Hospital Garcia da Orta, Lisboa, Portugal

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Vera Fernandes Department of Endocrinology, Hospital de Braga, Braga, Portugal

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Maria Lopes Pereira Department of Endocrinology, Hospital de Braga, Braga, Portugal

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Adrenal Tumors Study Group of the Portuguese Society of Endocrinology Department of Endocrinology, Centro Hospitalar do Porto, Porto, Portugal

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patients with autoimmune AD. *other: chronic mucocutaneous candidiasis, hypoparathyroidism, alopecia. Patients with genetic forms of AD Congenital adrenal hyperplasia (CAH) resulting from 21-hydroxylase deficiency occurred in 27 patients (55

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0295
Volume/Issue:
Volume 6: Issue 8
Open access
Nathalie Ly Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France

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Sophie Dubreuil Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France

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Philippe Touraine Department of Endocrinology and Reproductive Medicine, Reference Center for Rare Endocrine Diseases of Growth and Development, Reference Center for Gynecological Rare Diseases, Hôpitaux Universitaires Pitié Salpêtrière-Charles Foix, Paris, France
EndoERN, APHP Consortium Pitie Salpetriere Hospital, Necker Hospital, Paris, France
Sorbonne University, Paris, France

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population with GHRT when compared to the rate of corticotropin deficiency, which was lower in such population. Finally, two patients with congenital deficiency were not under GH at the time of conception. The first one has been diagnosed when she was 24

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-22-0241
Volume/Issue:
Volume 11: Issue 12
Open access
Wiebke Arlt Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, UK

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the Society for Endocrinology Clinical Committee The Society for Endocrinology, 22 Apex Court, Woodlands, Bradley Stoke, Bristol, UK

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itself, for example due to autoimmune-mediated destruction of adrenocortical tissue or surgical removal of the adrenal glands or due to inborn disruption of adrenal cortisol production in congenital adrenal hyperplasia. Secondary adrenal insufficiency

Article Type:
Other
DOI:
https://doi.org/10.1530/EC-16-0054
Volume/Issue:
Volume 5: Issue 5
Open access
Valentina Guarnotta Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Silvia Lucchese Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Mariagrazia Irene Mineo Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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Donatella Mangione Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Ostetricia e Ginecologia, Università di Palermo, Palermo, Italy

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Renato Venezia Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Ostetricia e Ginecologia, Università di Palermo, Palermo, Italy

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Piero Luigi Almasio Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Gastroenterologia ed Epatologia, Università di Palermo, Palermo, Italy

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Carla Giordano Dipartimento di Promozione della Salute, Materno-Infantile, Medicina Interna e Specialistica di Eccellenza ‘G. D’Alessandro’ (PROMISE), Sezione di Malattie Endocrine, del Ricambio e della Nutrizione, Università di Palermo, Palermo, Italy

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) ( 1 , 2 ). Insulin resistance with total, visceral, and hepatic adiposity is thought to be a major driver of such early maturation ( 3 , 4 ). Non-classical congenital adrenal hyperplasia or heterozygous carriers of 21-hydroxylase deficiency can

Article Type:
Research Article
Collections:
Paediatric Endocrinology Collection
DOI:
https://doi.org/10.1530/EC-21-0118
Volume/Issue:
Volume 10: Issue 7
Open access
Nobuo Matsuura Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan

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Tadashi Kaname Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan

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Norio Niikawa Health Sciences University of Hokkaido, Sapporo, Japan

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Yoshihide Ooyama Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan

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Osamu Shinohara Shinohara Child Clinic, Machida, Japan

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Yukifumi Yokota Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan

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Shigeyuki Ohtsu Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan

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Noriyuki Takubo Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan

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Kazuteru Kitsuda Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan

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Keiko Shibayama Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan

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Fumio Takada Department of Medical Genetics, Kitasato University Graduate School of Medical Science, Sagamihara, Japan

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Akemi Koike Miyanosawa Child Clinic, Sapporo, Japan

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Hitomi Sano Department of Pediatric, Sapporo City General Hospital, Sapporo, Japan

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Yoshiya Ito Department of Clinical Medicine, Japanese Red Cross Hospital Collage of Nursing, Kitami, Japan

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Kenji Ishikura Department of Pediatrics, Kitasato University School of Medicine, Sagamihara, Japan

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metacarpals are common in patients with ACRO, Turner syndrome, PHP and other congenital skeletal abnormalities ( 11 ). In the pediatric endocrine clinic, we usually take hand X-rays for the evaluation of bone age in patients with congenital hypothyroidism

Article Type:
Research Article
Collections:
Metabolic Syndrome and Diabetes
DOI:
https://doi.org/10.1530/EC-22-0151
Volume/Issue:
Volume 11: Issue 10
Open access
Salma R Ali Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK

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Melissa Gardner Susan B Meister Child Health Evaluation and Research Center, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA

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Yiqiao Xin Health Economics and Health Technology Assessment, Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK

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Stuart O’Toole Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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Martyn Flett Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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Boma Lee Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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Mairi Steven Department of Paediatric Surgery, Royal Hospital for Children, Glasgow, UK

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David E Sandberg Susan B Meister Child Health Evaluation and Research Center, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, USA

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S Faisal Ahmed Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK
Office for Rare Conditions, University of Glasgow, Glasgow, UK

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, including partial gonadal dysgenesis ( n = 1), bilateral undescended testes ( n = 1), hypogonadotropic hypogonadism ( n = 1), Klinefelter syndrome ( n = 1), and congenital adrenal hyperplasia (CAH) ( n = 1). All three girls had a diagnosis of CAH

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-24-0300
Volume/Issue:
Volume 13: Issue 11
Open access