ORPHA:755
Leydig cell hypoplasia
Also known as: 46,XY DSD due to LH resistance or LHB deficiency · 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency · 46,XY disorder of sex development due to LH resistance or LHB deficiency · 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
Query health: suspect — Source fetch failed for trials.
Publications
420
77.8th percentile
Trials
—
Interventional, condition-specific
Researchers
1,177
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare 46,XY difference of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019155
- MeSH:C562567
- UMLS:C0860158
Additional Mondo synonyms (2)
Male pseudohermaphroditism due to LH resistance or LHB deficiency · Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
420 matched papers (190 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 checked
Trial fetch failed or incomplete
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
420
420 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.
420 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).
190 in the last 10 years · medium confidence · 77.8th percentile (publications denominator)
Phrase hits: 420 · MeSH hits: 0
Who's working on it?
1,177
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Latronico AC5 papers · 2016
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil. anacl@usp.br
Papers in Europe PMC - 02Richter-Unruh A5 papers · 2013
Department of Pediatric Hematology, Oncology and Endocrinology, University Children's Hospital, University of Essen, 45122 Essen, Germany. annette.richter-unruh@uni-essen.de
Papers in Europe PMC - 03Themmen AP5 papers · 2012Papers in Europe PMC
- 04Arnhold IJ4 papers · 2013Papers in Europe PMC
- 05Mendonca BB4 papers · 2026
Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil. beremen@usp.br
Papers in Europe PMC - 06Rey RA4 papers · 2024
Centro de Investigaciones Endocrinológicas "Dr. César Bergadá" (CEDIE), CONICET - FEI - División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Buenos Aires, Argentina.
Papers in Europe PMC - 07Wang Y4 papers · 2025
Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 08Ascoli M3 papers · 2013Papers in Europe PMC
- 09Barnabas R3 papers · 2024
Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai 400012, India.
Papers in Europe PMC - 10Bertelloni S3 papers · 2026
Paediatric and Adolescent Endocrinology, Division of Pediatrics, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 27 July 2026
medium confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional 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" OR "46,XY DSD due to LH resistance or LHB deficiency" OR "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" OR "46,XY disorder of sex development due to LH resistance or LHB deficiency" OR "46,XY disorder of the sex development due to LH resistance or LHB deficiency" OR "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" OR "46,XY disorder of the sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" OR "Male pseudohermaphroditism due to LH resistance or LHB deficiency" OR "Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Query health: suspect — strategies attempted: phrase; with hits: phrase
Source errors: trials: Error: Failed after 5 retries: https://clinicaltrials.gov/api/v2/studies?query.cond=%22Leydig%20cell%20hypoplasia%22%20OR%20%2246%2CXY%20DSD%20due%20to%20LH%20resistance%20or%20LHB%20deficiency%22%20OR%20%2246%2CXY%20DSD%20due%20to%20luteinizing%20hormone%20resistance%20or%20luteinizing%20hormone%20beta%20subunit%20deficiency%22%20OR%20%2246%2CXY%20disorder%20of%20sex%20development%20due%20to%20LH%20resistance%20or%20LHB%20deficiency%22%20OR%20%2246%2CXY%20disorder%20of%20the%20sex%20development%20due%20to%20LH%20resistance%20or%20LHB%20deficiency%22%20OR%20%2246%2CXY%20disorder%20of%20sex%20development%20due%20to%20luteinizing%20hormone%20resistance%20or%20luteinizing%20hormone%20beta%20subunit%20deficiency%22%20OR%20%2246%2CXY%20disorder%20of%20the%20sex%20development%20due%20to%20luteinizing%20hormone%20resistance%20or%20luteinizing%20hormone%20beta%20subunit%20deficiency%22%20OR%20%22Male%20pseudohermaphroditism%20due%20to%20LH%20resistance%20or%20LHB%20deficiency%22%20OR%20%22Male%20pseudohermaphroditism%20due%20to%20luteinizing%20hormone%20resistance%20or%20luteinizing%20hormone%20beta%20subunit%20deficiency%22&format=json&pageSize=100&countTotal=true — Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Leydig%20cell%20hypoplasia%22%20OR%20%2246%2CXY%20DSD%20due%20to%20LH%20resistance%20or%20LHB%20deficiency%22%20OR%20%2246%2CXY%20DSD%20due%20to%20luteinizing%20hormone%20resistance%20or%20luteinizing%20hormone%20beta%20subunit%20deficiency%22%20OR%20%2246%2CXY%20disorder%20of%20sex%20development%20due%20to%20LH%20resistance%20or%20LHB%20deficiency%22%20OR%20%2246%2CXY%20disorder%20of%20the%20sex%20development%20due%20to%20LH%20resistance%20or%20LHB%20deficiency%22%20OR%20%2246%2CXY%20disorder%20of%20sex%20development%20due%20to%20luteinizing%20hormone%20resistance%20or%20luteinizing%20hormone%20beta%20subunit%20deficiency%22%20OR%20%2246%2CXY%20disorder%20of%20the%20sex%20development%20due%20to%20luteinizing%20hormone%20resistance%20or%20luteinizing%20hormone%20beta%20subunit%20deficiency%22%20OR%20%22Male%20pseudohermaphroditism%20due%20to%20LH%20resistance%20or%20LHB%20deficiency%22%20OR%20%22Male%20pseudohermaphroditism%20due%20to%20luteinizing%20hormone%20resistance%20or%20luteinizing%20hormone%20beta%20subunit%20deficiency%22&format=json&pageSize=100&countTotal=true
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (420) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T15:13:56.379Z