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 2 strategies returned hits (phrase).
Publications
76
45.6th percentile
Trials
0
Interventional, condition-specific
Researchers
235
Distinct authors in sample
Gene link
LHB
Strong
Readiness
3/6
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.”
3/6 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
76 matched papers (42 in last 10 years) Source
- Phenotype characterisedPresent
20 HPO annotations (e.g. Micropenis; Gynecomastia; Decreased circulating dihydrotestosterone concentration) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
20
Associated phenotypes · MONDO:0009223
- Micropenis
- Gynecomastia
- Decreased circulating dihydrotestosterone concentration
- Testicular microlithiasis
- Secondary amenorrhea
Showing 5 of 20 — 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?
76
76 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.
76 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).
42 in the last 10 years · high confidence · 45.6th 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
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 2026-07-30
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)
- ctis·2025-523616-36-00·Authorised·Exploratory study evaluating the relevance of [68Ga]Ga-FAPI-46 for staging and identifying progressing patients with transthyretin cardiac amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-524434-25-00·Authorised·"Contribution of 68Ga-FAPI-46 PET-CT in the initial staging of gastric cancers eligible for curative treatment" "FAPGASTRO"
skipped — LLM skipped (--skip-llm)
- ctis·2025-523971-46-00·Authorised·A single-arm, open-label, multi-centre, phase I/II first-in-human study evaluating the safety and clinical activity of QEL-005, an autologous CAR T-regulatory cell therapy treatment targeting CD19, in patients with diffuse cutaneous systemic sclerosis (dcSSc) and in patients with difficult to treat rheumatoid arthritis (D2TRA).
skipped — LLM skipped (--skip-llm)
- ctis·2024-511977-31-01·Authorised·68Ga-FAPI-46 PET for Giant Cell Arteritis-Polymyalgia Rheumatica Spectrum Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524123-45-00·Authorised·Treatment of low-flow vascular malformations with bleomycin electrosclerotherapy (BEST)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523868-20-00·Authorised·Efficacy and safety of a novel dual pH-dependent delayed-release ColeseveLam for the trEatment of bile Acid diarrhoea: a Randomized, double-blind, parallel-group, placebo-controlled clinical trial - CLEAR
skipped — LLM skipped (--skip-llm)
- ctis·2025-522834-30-01·Authorised·Fibroblast markers to tackle fibrosis in immune-mediated inflammatory diseases
skipped — LLM skipped (--skip-llm)
- ctis·2025-521603-46-00·Authorised·A study testing a new treatment called TK-6302 for the first time in people with advanced cancers that have a genetic marker called HLA-A02:01 and a tumour protein called PRAME.
skipped — LLM skipped (--skip-llm)
- ctis·2024-519384-18-00·Authorised, recruiting·A Phase 2/3, Multicenter, Open-Label, Non-Randomized Study to Evaluate Diagnostic Performance of GEH300079 (68Ga) Injection Positron-Emission Tomography (PET)/Computed Tomography (CT) for Detection of Peritoneal Carcinomatosis (PC) in Patients with Colorectal, Gastric, Ovarian, or Pancreatic Cancers (PERISCOPE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522742-46-00·Authorised·CANIDIAP; CANagliflozin In DIAlysis Patients
skipped — LLM skipped (--skip-llm)
- ctis·2025-523476-23-00·Authorised·Tick-Borne Encephalitis (TBE) Remdesivir Efficacy Assessment Trial (TREAT) – A phase 2 proof-of-concept, national, multicenter, randomized, double-blind, placebo-controlled clinical study designed to evaluate the efficacy of remdesivir in adult patients hospitalized for TBE
skipped — LLM skipped (--skip-llm)
- ctis·2025-524527-46-00·Cancelled·A single and multiple ascending dose study of topical ladarixin ophthalmic solution in healthy volunteers
skipped — LLM skipped (--skip-llm)
- ctis·2025-523032-39-00·Authorised·Improved baseline staging with 68Ga-FAPI-46 PET in non-small cell lung cancer – a pilot study
skipped — LLM skipped (--skip-llm)
- ctis·2025-522848-40-00·Authorised, ongoing·Impact of EXercise on quality of life of early breast cancer patients on treatment with adjuvant Aromatase Inhibitors with or without CDK4/6 inhibitors. "The EX-AI study"
skipped — LLM skipped (--skip-llm)
- ctis·2025-521217-46-00·Cancelled·Impact of influenza vaccination on nasal resident memory immune responses and respiratory peripheral memory immune responses - MUCOVAC 2
skipped — LLM skipped (--skip-llm)
- ctis·2025-522346-46-00·Authorised, ongoing·Study of Oral MC-1 for the Treatment of Patients with PNPO Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2025-521163-12-01·Authorised·The use of [68Ga]Ga-FAPI PET/MRI in assessing disease activity in patients with Graves’ orbitopathy
skipped — LLM skipped (--skip-llm)
- ctis·2025-520731-17-02·Authorised·68Ga-FAPI PET/CT imaging to assess pulmonary artery and right ventricle remodeling
SoFAPI study
skipped — LLM skipped (--skip-llm)
- ctis·2024-518365-10-00·Authorised, ongoing·A PHASE III, RANDOMIZED, OPEN-LABEL STUDY EVALUATING THE EFFICACY AND SAFETY OF DIVARASIB AND PEMBROLIZUMAB VERSUS PEMBROLIZUMAB AND PEMETREXED AND CARBOPLATIN OR CISPLATIN IN PATIENTS WITH PREVIOUSLY UNTREATED, KRAS G12C-MUTATED, ADVANCED OR METASTATIC NON-SQUAMOUS NON-SMALL CELL LUNG CANCER
skipped — LLM skipped (--skip-llm)
- ctis·2024-514248-95-00·Authorised·A 52 week, randomized, double-blind, double dummy multinational, multicenter, active controlled, 2-arm parallel group trial comparing CHF 5993 100/6/12.5 µg pMDI (fixed combination of extrafine Beclomethasone Dipropionate plus Formoterol Fumarate plus Glycopyrronium Bromide) to Seretide® Evohaler® 125/25 µg pMDI (fixed combination of fluticasone propionate / salmeterol xinafoate) in adolescent subjects with asthma uncontrolled on medium doses of inhaled corticosteroids in combination with long acting ß2 agonists.
skipped — LLM skipped (--skip-llm)
- ctis·2024-520037-76-00·Authorised, ongoing·INTERACT-FAPI: “The value of 68Ga-FAPI PET/CT for evaluating peritoneal treatment response.”
skipped — LLM skipped (--skip-llm)
- ctis·2024-517270-23-00·Authorised, ongoing·"Diagnostic value of 68Ga-FAPI-46 PET/CT in the initial work-up of pancreatic and biliary cancers eligible to a curative treatment" "FAPDIG"
skipped — LLM skipped (--skip-llm)
- ctis·2024-517987-46-00·Expired·A multicentre, randomised, double-blind, placebo-controlled, parallel-group trial to evaluate the efficacy and safety of BP1.4979 in adult patients with essential tremor
skipped — LLM skipped (--skip-llm)
- ctis·2025-521856-47-00·Authorised, ongoing·Treatment of Bile Acid Diarrhoea with Atorvastatin (BASTA)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518908-46-00·Authorised·Use of [18F]FET PET-MRI to improve detection of pituitary adenomas in Cushing’s disease
skipped — LLM skipped (--skip-llm)
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 due to LHB deficiency — check Associations / patient organisations on that page.
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") OR (MESH:"Fertile eunuch syndrome") OR ("LHB syndrome" OR "LHB-related")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"
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; 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