ORPHA:95702
X-linked adrenal hypoplasia congenita
Also known as: X-linked AHC · X-linked congenital adrenal hypoplasia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
339
71.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,114
Distinct authors in sample
Gene link
NR0B1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic adrenal disease characterized by primary adrenal insufficiency (AI) and/or hypogonadotropic hypogonadism (HH). Male patients typically present with AI with acute onset in infancy or insidious onset in childhood. Clinical features of AI include hyperpigmentation, vomiting, poor feeding, , , vascular collapse, and sometimes sudden death. HH manifests later as delayed or arrested puberty. In rare cases, patients become symptomatic in early adulthood with delayed-onset AI, partial HH, and/or infertility. Histologically, the adrenal glands lack the permanent adult cortical zone. The remaining cells are larger than fetal adrenal cells (''cytomegalic'') and contain characteristic nuclear inclusions.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010264
- OMIM:300200
- UMLS:C0342482
- NCIT:C123725
Additional Mondo synonyms (1)
adrenal hypoplasia, congenital, X-linked recessive
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
Definitive — NR0B1
- LiteraturePresent
339 matched papers (132 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 (NR0B1).
GenCC classification: Definitive.
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?
339
339 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.
339 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).
132 in the last 10 years · high confidence · 71.2th percentile (publications denominator)
Phrase hits: 339 · MeSH hits: 0
Who's working on it?
1,114
Distinct author names in 200 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.
- 01Achermann JC17 papers · 2022
Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University Medical School, Chicago, Illinois 60611, USA.
Papers in Europe PMC - 02Jameson JL8 papers · 2007
Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Papers in Europe PMC - 03Buonocore F6 papers · 2022
Department of Pediatric Endocrinology and Diabetes (T.G., Z.A., A.B., S.T.), Marmara University, Istanbul 34899, Turkey; Institute of Metabolism and Systems Research (T.G.), University of Birmingham, Birmingham B15 2TT, United Kingdom; Department of Genetics and Genomic Medicine (F.B., J.S., J.C.A.), University College London Institute of Child Health, University College London, London WC1N 1EH, United Kingdom; Department of Pediatric Endocrinology and Diabetes (N.S., F.B., B.K.A., Z.Y.A.), Istanbul Faculty of Medicine, Istanbul University, 34452 Istanbul, Turkey; Clinics of Pediatric Endocrinology (M.N.O., H.D.), Diyarbakir Children's Hospital, 21100 Diyarbakir, Turkey; Clinics of Pediatric Endocrinology (Z.A., S.Y.A.), Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, 06100 Ankara, Turkey; Department of Pediatric Endocrinology and Diabetes (S.D., S.O.), Ege University, 35040 Izmir, Turkey; Department of Pediatric Endocrinology and Diabetes (A.B., E.D.), Gazi University, 06550 Ankara, Turkey; Pediatric Endocrinology Clinic (A.G., M.Y.), Goztepe Educational and Research Hospital, 34810 Istanbul, Turkey; Department of Pediatrics (A.G.), Amasya University Medical Faculty, 05189 Amasya, Turkey; Pediatric Endocrinology Clinic (K.D.), Dr Behçet Uz Children's Hospital, Izmir, Turkey; Department of Pediatric Endocrinology and Diabetes (A.A.), Inonu University, Malatya, Turkey; Clinics of Pediatric Endocrinology (M.B.), Konya Training and Research Hospital, 42100 Konya, Turkey; Department of Pediatric Endocrinology and Diabetes (O.T.), Uludag University, 16059 Bursa, Turkey; Department of Pediatric Endocrinology and Diabetes (G.C.), Eylul University, 35210 Izmir, Turkey; Department of Pediatric Endocrinology and Diabetes (B.Y.), Cukurova University, 01330 Adana, Turkey; Clinics of Pediatric Endocrinology (T.A.), Kanuni Sultan Suleyman Education and Research Hospital, 34303 Istanbul, Turkey; Pediatric Endocrinology Clinic
Papers in Europe PMC - 04Kim GH5 papers · 2018
Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
Papers in Europe PMC - 05Yoo HW5 papers · 2018
Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-Gu, Seoul, 05505, South Korea. hwyoo@amc.seoul.kr.
Papers in Europe PMC - 06Cappa M4 papers · 2023
Endocrinology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 07Fujieda K4 papers · 2008Papers in Europe PMC
- 08McCabe ER4 papers · 2006Papers in Europe PMC
- 09Ozisik G4 papers · 2007
Division of Endocrinology, Metabolism, and Molecular Medicine, Northwestern University, The Feinberg School of Medicine, Chicago, Illinois 60611-3008, USA.
Papers in Europe PMC - 10
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.
"X-linked adrenal hypoplasia congenita" OR "X-linked AHC" OR "X-linked congenital adrenal hypoplasia" OR "adrenal hypoplasia, congenital, X-linked recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked adrenal hypoplasia congenita" OR "X-linked AHC" OR "X-linked congenital adrenal hypoplasia" OR "adrenal hypoplasia, congenital, X-linked recessive" OR "NR0B1"
Recall-expansion terms: NR0B1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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 2026-07-27T04:48:14.540Z