ORPHA:325448
Leydig cell hypoplasia due to LHB deficiency
Also known as: 46,XY DSD due to LHB deficiency · 46,XY DSD due to luteinizing hormone subunit beta deficiency · 46,XY disorder of sex development due to LHB deficiency · 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency · Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
45
32.9th percentile
Trials
0
Interventional, condition-specific
Researchers
235
Distinct authors in sample
Gene link
LHB
Strong
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009223
- MeSH:C537919
- OMIM:228300
- UMLS:C0271582
Additional Mondo synonyms (4)
LHB hypogonadotropic hypogonadism · Pasqualini syndrome · fertile eunuch syndrome · hypogonadotropic hypogonadism caused by mutation in LHB
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — LHB
- LiteraturePresent
45 matched papers (15 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (LHB).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
45
45 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
45 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
15 in the last 10 years · high confidence · 32.9th percentile (publications denominator)
Phrase hits: 45 · MeSH hits: 0
Who's working on it?
235
Distinct author names in 45 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Dwyer AA5 papers · 2026
Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland.
Papers in Europe PMC - 02Quinton R5 papers · 2024
Institute for Genetic Medicine, University of Newcastle-on-Tyne, Newcastle-on Tyne, UK.
Papers in Europe PMC - 03Crowley WF Jr3 papers · 2017
National Center for Translational Research in Reproduction and Infertility, Harvard Reproductive Endocrine Sciences Center of the Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Papers in Europe PMC - 04McDonald IR3 papers · 2024
William F. Connell School of Nursing, Boston College, Chestnut Hill, Massachusetts, USA.
Papers in Europe PMC - 05Pitteloud N3 papers · 2017
Service of Endocrinology, Diabetology & Metabolism, Lausanne University Hospital, Lausanne, Switzerland nelly.pitteloud@chuv.ch.
Papers in Europe PMC - 06Plummer L3 papers · 2022
National Center for Translational Research in Reproduction and Infertility, Harvard Reproductive Endocrine Sciences Center of the Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Papers in Europe PMC - 07Seminara SB3 papers · 2024
National Institute of Child Health and Human Development, P50 Massachusetts General Hospital Harvard Center for Reproductive Medicine, Boston, MA, USA; Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA, USA.
Papers in Europe PMC - 08Stamou M3 papers · 2026
Massachusetts General Hospital - Harvard Center for Reproductive Medicine, Massachusetts General Hospital, Boston, MA, United States.
Papers in Europe PMC - 09Bonomi M2 papers · 2024
Division of Endocrinology and Metabolism, Istituto Auxologico Italiano IRCCS, Milan, Italy.
Papers in Europe PMC - 10Huhtaniemi IT2 papers · 2026
Institute of Reproductive and Developmental Biology (IRDB), Department of Surgery and Cancer, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category Leydig cell hypoplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: Leydig cell hypoplasia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Leydig cell hypoplasia due to LHB deficiency" OR "46,XY DSD due to LHB deficiency" OR "46,XY DSD due to luteinizing hormone subunit beta deficiency" OR "46,XY disorder of sex development due to LHB deficiency" OR "46,XY disorder of the sex development due to LHB deficiency" OR "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" OR "46,XY disorder of the sex development due to luteinizing hormone subunit beta deficiency" OR "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" OR "LHB hypogonadotropic hypogonadism" OR "Pasqualini syndrome" OR "fertile eunuch syndrome" OR "hypogonadotropic hypogonadism caused by mutation in LHB"
MeSH descriptor terms unioned into the query: Fertile eunuch syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Leydig cell hypoplasia due to LHB deficiency" OR "46,XY DSD due to LHB deficiency" OR "46,XY DSD due to luteinizing hormone subunit beta deficiency" OR "46,XY disorder of sex development due to LHB deficiency" OR "46,XY disorder of the sex development due to LHB deficiency" OR "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" OR "46,XY disorder of the sex development due to luteinizing hormone subunit beta deficiency" OR "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" OR "LHB hypogonadotropic hypogonadism" OR "Pasqualini syndrome" OR "fertile eunuch syndrome" OR "hypogonadotropic hypogonadism caused by mutation in LHB" OR "LHB"
Recall-expansion terms: LHB
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Leydig cell hypoplasia"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T13:44:30.021Z