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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
Rossella Cannarella Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

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Andrea Crafa Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy

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

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

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

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: puberty onset and progression, testicular volume, gonadotropin, and total testosterone serum levels, sperm parameters and fertility, micropenis. Methods Sources Data used to perform this systematic review were independently extracted by A C and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0252
Volume/Issue:
Volume 10: Issue 9
Open access
Elena Galazzi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Paolo Duminuco IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Mirella Moro IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Fabiana Guizzardi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy

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Nicoletta Marazzi IRCSS Istituto Auxologico Italiano, Laboratory for Auxo-Endocrinological Research, Milan, Italy

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Alessandro Sartorio IRCSS Istituto Auxologico Italiano, Laboratory for Auxo-Endocrinological Research, Milan, Italy
Division of Auxology and Metabolic Diseases, IRCSS Istituto Auxologico Italiano, Piancavallo (VB), Italy

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Sabrina Avignone Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, U.O.C Neuroradiologia, Milan, Italy

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Marco Bonomi IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Luca Persani IRCSS Istituto Auxologico Italiano, Laboratory of Endocrine and Metabolic Research and Division of Endocrine and Metabolic Diseases, Milan, Italy
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy

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Maria Teresa Bonati IRCCS Istituto Auxologico Italiano, Service of Medical Genetics, Milan, Italy

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association between TBX3 variants with isolated hypogonadotropic hypogonadism (IHH), signs of hypogonadism, including bilateral cryptorchidism, micropenis and delayed puberty, have been repeatedly reported among patients with UMS ( 3 , 4 , 5 , 6 , 7 , 8

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0486
Volume/Issue:
Volume 7: Issue 12
Open access
Yijun Tang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yao Chen Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jiayi Wang Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Qianwen Zhang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yirou Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Yufei Xu Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xin Li Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Jian Wang International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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Xiumin Wang Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China

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, male-type external genitalia with bilateral cryptorchidism and/or micropenis and/or hypospadias, female-type external genitalia with clitoral enlargement and/or labia fusion and/or inguinal mass and/or inguinal hernia, gonadal dysplasia (GD), absent

Article Type:
Research Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-23-0029
Volume/Issue:
Volume 12: Issue 10
Open access
Yardena Tenenbaum-Rakover Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Rappaport Faculty of Medicine, Technion, Haifa, Israel

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Osnat Admoni Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Ghadir Elias-Assad Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Rappaport Faculty of Medicine, Technion, Haifa, Israel

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Shira London Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Marie Noufi-Barhoum Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel
The Azrieli Faculty of Medicine, Bar-Ilan, Safed, Israel

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Hanna Ludar Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Tal Almagor Pediatric Endocrine Institute, Ha'Emek Medical Center, Afula, Israel

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Yoav Zehavi Pediatric Department, B, Ha’Emek Medical Center, Afula, Israel

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Charles Sultan Pediatric Endocrinology and Gynecology Unit, CHU de Montpellier, Hôpital Arnaud de Villeneuve et Université Montpellier, Montpellier, France

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Rita Bertalan Institute Pasteur, Rue Dr Roux, Paris, France

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Anu Bashamboo Institute Pasteur, Rue Dr Roux, Paris, France

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Kenneth McElreavey Institute Pasteur, Rue Dr Roux, Paris, France

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) Phenotype b Others PH Penile length (cm) TV (mL) 1 Arab-Muslim No Female 10 Bilateral UDT, micropenis, hypospadias G4 46,XY 13.5 P3 5.5 4 ADHD, learning difficulties 2 Arab-Muslim Yes Female 90

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0019
Volume/Issue:
Volume 10: Issue 6
Open access
Ja Hye Kim Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Ji-Hee Yoon Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jieun Lee Department of Pediatrics, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea

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Min Jae Kang Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea

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Gu-Hwan Kim Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Han-Wook Yoo Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Jin-Ho Choi Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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of whom were prepubertal children who attended our center due to anosmia, and 1 neonate treated at our center due to cryptorchidism and a micropenis. The diagnosis of IGD was based on previously described criteria ( 6 ) as follows: (i) absent or

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-22-0413
Volume/Issue:
Volume 12: Issue 5
Open access
Ja Hye Kim Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Yunha Choi Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Soojin Hwang Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Gu-Hwan Kim Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea

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Han-Wook Yoo Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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Jin-Ho Choi Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea

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). Endocrine dysfunctions are commonly associated with CHARGE syndrome. Approximately 60–80% of patients with CHARGE syndrome present with hypogonadotropic hypogonadism, manifesting as genital hypoplasia such as micropenis or cryptorchidism in males and delayed

Article Type:
Research Article
Collections:
Pituitary and Hypothalamus
DOI:
https://doi.org/10.1530/EC-21-0522
Volume/Issue:
Volume 11: Issue 2
Open access
Bruno Donadille Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Muriel Houang Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France

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Irène Netchine Service d’Explorations Fonctionnelles Endocriniennes, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Trousseau, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France

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Jean-Pierre Siffroi Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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Sophie Christin-Maitre Service d’Endocrinologie et Médecine de la Reproduction, Centre de Référence des Maladies Endocrines Rares de la Croissance, Hôpital Saint Antoine, Groupe Hospitalier Universitaire Est, AP-HP, Paris, France
Université Pierre et Marie Curie, Sorbonne Université, Paris, France
INSERM UMR_S933, Paris, France

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severe form of HSD3B2 mutation, male patients present neonatal salt wasting, as well as disorders of sexual development (DSD), with micropenis and severe hypospadias. The external genitalia morphogenesis is impaired due to the diminished testosterone

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0306
Volume/Issue:
Volume 7: Issue 3
Open access
R Walia Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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M Singla Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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K Vaiphei Department of Histopathology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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S Kumar Department of Urology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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A Bhansali Department of Endocrinology, Postgraduate Institute of Medical Education & Research, Chandigarh, India

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of the purpose and nature of all procedures used. Features that suggest the diagnosis of DSD include overt genital ambiguity, apparent male genitalia with non-palpable testis, micropenis, isolated perineal hypospadias, apparent female genitalia with

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0022
Volume/Issue:
Volume 7: Issue 2
Open access
E Kohva Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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P J Miettinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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S Taskinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Department of Pediatric Surgery, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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M Hero Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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A Tarkkanen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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T Raivio Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

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  Severe hypospadias and bilateral cryptorchidism 16 (2.9) 0.02 (0–0.04) 0   Micropenis 5 (0.9) 0.01 (0–10.6) 0   Micropenis and bilateral cryptorchidism 6 (1.1) 0.1 (0–10.5) 20   Micropenis and severe hypospadias 8 (1

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0070
Volume/Issue:
Volume 7: Issue 4
Open access