Klinefelter Syndrome
Recent clinical, regulatory, research and industry developments relating to this disease.
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 1 clinical trial expected to report results, the earliest in Q2 2027.
Clinical MilestonesViewHide
- 2026-05-11ClinicalDissecting the Importance of Sex Steroids Balance for Metabolic and Reproductive Health in Men With Klinefelter Syndrome: a Randomized Controlled StudyResults expected Q2 2027
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes3
- Hypogonadism1
- Klinefelter Syndrome1
- Puberty, Delayed1
Leading journals1
- International journal of molecular sciences1
Leading researchers5
- Fanis P1
- Neocleous V1
- Papapetrou I1
- Phylactou LA1
- Skordis N1
Affiliations (unnormalised)3
- Paedi Center for Specialized Paediatrics1
- School of Medicine1
- The Cyprus Institute of Neurology and Genetics1
Reference
Authoritative identity, definition & identifiers.
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.