Summary
Definition
History and exam
Key diagnostic factors
- infertility
- failure to complete pubertal maturation
- small testes
- expressive speech delay in early childhood
- micropenis
- cryptorchidism
Other diagnostic factors
- developmental delay
- behavioral problems in childhood
- tall stature
- lack of facial and pubic hair
- gynecomastia
- sexual dysfunction/reduced libido
- high fat-to-muscle ratio/abdominal obesity
- social/ psychological issues
- fatigue
Risk factors
- increased maternal age
Diagnostic tests
1st tests to order
- chromosomal karyotype
- serum total testosterone
- serum LH/FSH
Tests to consider
- inhibin B
Treatment algorithm
children
adolescents
adults
Contributors
Authors
Alan D. Rogol, MD, PhD
Professor Emeritus
Departments of Pediatrics and Pharmacology
University of Virginia
Charlottesville
VA
Disclosures
ADR declares consultation for Antares Pharma (androgen therapy for adolescents), Ascendis Pharma (long-acting growth hormone therapy), BioMarin Pharmaceuticals (therapy for growth plate disorders), Pfizer Pharmaceuticals (long-acting growth hormone), Tolmar Pharmaceuticals (androgen therapy for adolescents), the US Anti-Doping Agency (testosterone and growth hormone in US elite athletes), and the World Anti-doping Agency (testosterone and growth hormone in International elite athletes); he is the Chair DSMB for oral growth hormone secretagogue for Lumos Pharma.
Gary E. Butler, MD, FRCPCH
Consultant in Paediatric and Adolescent Endocrinology
University College London Hospital
Clinical Professor of Child and Adolescent Health
UCL Great Ormond Street Institute of Child Health
London
UK
Disclosures
GEB declares that he has no competing interests.
Claus Højbjerg Gravholt, MD, PhD
Professor and Consultant
Department of Endocrinology and Internal Medicine
Department of Molecular Medicine
Aarhus University Hospital
Aarhus University
Aarhus
Denmark
Disclosures
CHV has received honorariums within the last 3 years from Novo Nordisk, Merck, and Astra Zeneca for talks on Turner syndrome and endocrine side effects of protein kinase inhibitors.
Peer reviewers
Shanlee Davis, MD, PhD
Associate Professor
Pediatrics-Endocrinology
University of Colorado
Aurora
CO
Disclosures
SD serves as a site investigator for Ascendis Pharma on a long-acting growth hormone study. SD serves as a medical advisor for the nonprofit organization Living with XXY. SD has received research funding from the NIH, the Boettcher Foundation, the Pediatric Endocrine Society, AXYS, Living with XXY, and the Turner Syndrome Global Alliance.
Tet Yap, MB BChir, MD, MA, FRCS(Urol), FEBU
Consultant Andrological Surgeon
Guy's and St Thomas' Hospital NHS Foundation Trust
London
UK
Disclosures
TY declares that he has no competing interests.
Differentials
- Other male sex chromosome aneuploidies
- Other causes of developmental delay
- Central (secondary) hypogonadism
More DifferentialsGuidelines
- European Academy of Andrology guidelines on Klinefelter syndrome
- Testosterone therapy in men with hypogonadism
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