ORPHA:95700
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Also known as: Familial adrenal hypoplasia with absent pituitary LH · Familial adrenal hypoplasia, miniature type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
11
21.7th percentile
Trials
0
Interventional, condition-specific
Researchers
66
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare endocrine disease characterized by a miniature adult type of adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and demise. Patients present with hypogonadotropic hypogonadism, , , and diabetes insipidus. There have been no further descriptions in the literature since 1988.
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:0008731
- MeSH:C565976
- OMIM:202150
- UMLS:C1859978
Additional Mondo synonyms (2)
familial adrenal hypoplasia with absent pituitary LH · familial adrenal hypoplasia, miniature type
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
11 matched papers (6 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?
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?
11
11 papers have ever been indexed 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.
11 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).
6 in the last 10 years · high confidence · 21.7th percentile (publications denominator)
Phrase hits: 11 · MeSH hits: 0
Who's working on it?
66
Distinct author names in 11 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.
- 01Laron Z3 papers · 2020
Endocrine and Diabetes Research Unit, Schneider Children's Medical Center, Petah Tikva 49292, Israel.
Papers in Europe PMC - 02Di Meglio L2 papers · 2016
Clinical Department of Gynaecology and Obstetrics of Physiopathology Reproduction, "Federico II" University of Naples, Italy.
Papers in Europe PMC - 03Angelini M1 paper · 2022
Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy. marco.angelini17@studio.unibo.it.
Papers in Europe PMC - 04Babalola F1 paper · 2021
Division of Endocrinology, Department of Pediatrics, Hospital for Sick Children, Toronto Ontario.
Papers in Europe PMC - 05BINGXUN YANG1 paper · 2009Papers in Europe PMC
- 06Bisker-Kassif O1 paper · 2014
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Papers in Europe PMC - 07Boffetta P1 paper · 2022
Stony Brook Cancer Center, Stony Brook University, New York NY, USA. paolo.boffetta@gmail.com.
Papers in Europe PMC - 08Chaudhari M1 paper · 2025
Section of Endocrinology, Department of Pediatrics, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, Ohio, USA.
Papers in Europe PMC - 09Chiofato B1 paper · 2016
Unit of Gynaecology and Obstetrics, Department of Human Pathology in Adulthood and Childhood "Gaetano Barresi", University of Messina, Italy.
Papers in Europe PMC - 10CHUNWEI ZHENG1 paper · 2009Papers 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"Familial adrenal hypoplasia with absent pituitary luteinizing hormone" OR "Familial adrenal hypoplasia with absent pituitary LH" OR "Familial adrenal hypoplasia, miniature type"
MeSH descriptor terms unioned into the query: Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial adrenal hypoplasia with absent pituitary luteinizing hormone" OR "Familial adrenal hypoplasia with absent pituitary LH" OR "Familial adrenal hypoplasia, miniature type" OR "Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 2026-07-27T04:48:04.278Z