Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline

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Abstract

An Endo-European Reference Network guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult and 2 patient representatives. The guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology and the European Academy of Andrology. The aim was to create practice guidelines for clinical assessment and puberty induction in individuals with congenital pituitary or gonadal hormone deficiency. A systematic literature search was conducted, and the evidence was graded according to the Grading of Recommendations, Assessment, Development and Evaluation system. If the evidence was insufficient or lacking, then the conclusions were based on expert opinion. The guideline includes recommendations for puberty induction with oestrogen or testosterone. Publications on the induction of puberty with follicle-stimulation hormone and human chorionic gonadotrophin in hypogonadotropic hypogonadism are reviewed. Specific issues in individuals with Klinefelter syndrome or androgen insensitivity syndrome are considered. The expert panel recommends that pubertal induction or sex hormone replacement to sustain puberty should be cared for by a multidisciplinary team. Children with a known condition should be followed from the age of 8 years for girls and 9 years for boys. Puberty induction should be individualised but considered at 11 years in girls and 12 years in boys. Psychological aspects of puberty and fertility issues are especially important to address in individuals with sex development disorders or congenital pituitary deficiencies. The transition of these young adults highlights the importance of a multidisciplinary approach, to discuss both medical issues and social and psychological issues that arise in the context of these chronic conditions.

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Author and article information

Journal

Journal ID (nlm-ta): Eur J Endocrinol

Journal ID (iso-abbrev): Eur J Endocrinol

Journal ID (hwp): EJE

Title: European Journal of Endocrinology

Publisher: Bioscientifica Ltd (Bristol )

ISSN (Print): 0804-4643

ISSN (Electronic): 1479-683X

Publication date (Electronic): 29 March 2022

Publication date Collection: 01 June 2022

Volume: 186

Issue: 6

Pages: G9-G49

Affiliations

[1 ]Pediatric Endocrinology , Department of Women’s and Children’s Health Karolinska Institutet, and Department of Pediatric Endocrinology and Inborn Errors of Metabolism, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden

[2 ]Developmental Endocrinology Research Group , School of Medicine, Dentistry & Nursing, University of Glasgow, Royal Hospital for Children, Glasgow, UK

[3 ]Division of Pediatric Endocrinology and Obesity Center CGG , Department of Pediatrics, Erasmus MC Sophia Children’s Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands

[4 ]Department of Endocrinology , Alder Hey Children’s Hospital, Liverpool, UK

[5 ]Department of Medical Biotechnology and Translational Medicine , University of Milan, Milan, Italy

[6 ]Department of Endocrine and Metabolic Diseases , IRCCS Istituto Auxologico Italiano, Milan, Italy

[7 ]Pediatric Endocrinology Unit , Hôpital Universitaire des Enfants HUDERF, Université Libre de Bruxelles, Bruxelles, Belgium

[8 ]Division of Endocrinology , Department of Medicine, Leiden University Medical Center, Leiden, The Netherlands

[9 ]Department of Pediatric Endocrinology , Amalia Childrens Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands

[10 ]Department of Child and Adolescent Psychiatry and Psychology , Sophia Children’s Hospital Erasmus Medical Center, Rotterdam, Netherlands

[11 ]Department of Internal Medicine and Pediatrics , Faculty of Medicine and Health Sciences, University Ghent, Ghent, Belgium

[12 ]Department of Pediatrics and Pediatric Endocrinology , Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland

[13 ]Department of Endocrinology and Internal Medicine , Aarhus University Hospital, Aarhus, Denmark

[14 ]Department of Molecular Medicine , Aarhus University Hospital, Aarhus, Denmark

[15 ]Department of Growth and Reproduction , Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark

[16 ]International Research and Research Training Centre for Endocrine Disruption in Male Reproduction and Child Health (EDMaRC) and Department of Clinical Medicine , University of Copenhagen, Copenhagen, Denmark

[17 ]Department of Biochemical , Experimental and Clinical Sciences ‘Mario Serio’, University of Florence, Florence, Italy

[18 ]New Children’s Hospital , Pediatric Research Center, Helsinki University Hospital, and Research Program Unit, Faculty of Medicine, Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland

[19 ]Turner Syndrome Support Society in the UK , ePAG ENDO-ERN, UK

[20 ]Department of Endocrinology and Reproductive Medicine , Pitié Salpêtriere Hospital, Paris, France

[21 ]Sorbonne Université Médecine and Center for Endocrine Rare Disorders of Growth and Development and Center for Rare Gynecological Disorders , Paris, France

[22 ]SOD ITALIA APS – Italian Patient Organization for Septo Optic Dysplasia and Other Neuroendocrine Disorders – ePAG ENDO-ERN , Rome, Italy

[23 ]Department of Clinical Epidemiology , LUMC Leiden, Leiden, The Netherlands

[24 ]Department of Clinical Epidemiology , Aarhus University, Aarhus, Denmark