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ORPHA:755

Leydig cell hypoplasia

medium confidenceDisorder

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

67.3th percentile

Trials

—

Interventional, condition-specific

Researchers

1,177

Distinct authors in sample

Gene link

—

Readiness

2/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

2/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    420 matched papers (190 in last 10 years) Source

  3. Phenotype characterisedPresent

    45 HPO annotations (e.g. Aplasia of the uterus; Primary amenorrhea; Abnormal internal genitalia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

45

Associated phenotypes · MONDO:0019155

  • Aplasia of the uterus
  • Primary amenorrhea
  • Abnormal internal genitalia
  • Hypergonadotropic hypogonadism
  • Increased circulating gonadotropin level

Showing 5 of 45 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

420 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

190 in the last 10 years · medium confidence · 67.3th percentile (publications denominator)

Phrase hits: 420 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Latronico 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
  2. 02
    Richter-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
  3. 03
    Themmen AP5 papers · 2012
    Papers in Europe PMC
  4. 04
    Arnhold IJ4 papers · 2013
    Papers in Europe PMC
  5. 05
    Mendonca BB4 papers · 2026

    Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil. beremen@usp.br

    Papers in Europe PMC
  6. 06
    Rey 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
  7. 07
    Wang Y4 papers · 2025

    Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  8. 08
    Ascoli M3 papers · 2013
    Papers in Europe PMC
  9. 09
    Barnabas R3 papers · 2024

    Department of Endocrinology, Seth G S Medical College & KEM Hospital, Mumbai 400012, India.

    Papers in Europe PMC
  10. 10
    Bertelloni 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 11 September 2026 · last trial check 31 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (60)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Leydig cell hypoplasia — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Leydig cell hypoplasia"

Query health: suspect — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Source errors: trials: 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