Research Evidence
Peer-reviewed studies linked via MeSH term "Donohue Syndrome" from the MEDLINE/PubMed database.
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Donohue syndrome: A review of literature, case series, and anesthetic considerations.
[object Object], [object Object], [object Object] · Paediatr Anaesth · 2018
PMID: 29148123Meta-Analysis
Insulin receptor variants: Extending the traditional Mendelian spectrum.
[object Object], [object Object], [object Object] et al. · Genet Med · 2025
PMID: 40094207Observational
[A case of Rabson-Mendenhall syndrome treated with empagliflozin combined with metformin].
[object Object], [object Object], [object Object] et al. · Zhonghua Er Ke Za Zhi · 2025
PMID: 40962551Case Report
Case Report: The long-term effects of the empagliflozin therapy on glycemia and renal function in a patient with Rabson-Mendenhall syndrome caused by two heterozygous variants in INSR gene.
[object Object], [object Object], [object Object] et al. · Front Endocrinol (Lausanne) · 2025
Genealogical Rabson-Mendenhall syndrome caused bygene mutation.
[object Object], [object Object], [object Object] · Am J Physiol Endocrinol Metab · 2025
PMID: 40499531Case Report
A Novel Mutation in theGene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.
[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2024
"An unprecedented occurrence: a case report of pulmonary hypertension manifestation in Donohue syndrome".
[object Object], [object Object], [object Object] et al. · BMC Pediatr · 2024
Syndrome of Congenital Insulin Resistance Caused by a NovelGene Mutation
[object Object], [object Object], [object Object] et al. · J Clin Res Pediatr Endocrinol · 2023
[Insulin receptor defect as a cause of Rabson-Mendenhall syndrome and other rare genetic insulin resistance syndromes].
[object Object], [object Object] · Pediatr Endocrinol Diabetes Metab · 2010
PMID: 21092701Review
Incomplete phenotypic presentation in a girl with rare Rabson-Mendenhall syndrome.
[object Object], [object Object], [object Object] et al. · Acta Diabetol · 2023
Search all PubMed articles for Leprechaunism syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Conjugated hyperbilirubinemia
Always present (100%)HP:0002908
Cystic ovaries
Always present (100%)HP:0000138
Elevated gamma-glutamyltransferase level
Always present (100%)HP:0030948
Hirsutism
Always present (100%)HP:0001007
Hypoglycemic episodes
Always present (100%)HP:0001988
Increased amniotic fluid index
Always present (100%)HP:0001561
Increased C-peptide level
Always present (100%)HP:0030796
Left ventricular wall hypertrophy
Always present (100%)HP:0001712
Medullary nephrocalcinosis
Always present (100%)HP:0012408
Prominent eyes
Always present (100%)HP:0000520
Small for gestational age infant
Always present (100%)HP:0001511
Thickened facial skin with coarse facial features
Always present (100%)HP:0000280
Body fails to respond to insulin
Very frequent (80-99%)HP:0000855
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Growth delay as children
Very frequent (80-99%)HP:0008897
Increased hair growth on body
Very frequent (80-99%)HP:0000998
Low blood sugar when fasting
Very frequent (80-99%)HP:0003162
Postprandial hyperglycemia
Very frequent (80-99%)HP:0011998
Reduced subcutaneous adipose tissue
Very frequent (80-99%)HP:0003758
Severe intrauterine growth retardation
Very frequent (80-99%)HP:0008846
Acanthosis nigricans
Frequent (30-79%)HP:0000956
Belly bloating
Frequent (30-79%)HP:0003270
Cardiomyopathy, hypertrophic
Frequent (30-79%)HP:0001639
Decreased body weight
Frequent (30-79%)HP:0004325
Enlarged kidney
Frequent (30-79%)HP:0000105
Enlarged liver
Frequent (30-79%)HP:0002240
Enlarged vaginal lips
Frequent (30-79%)HP:0000065
Episodic infantile hypoglycemia
Frequent (30-79%)HP:0004914
Hyperinsulinemia
Frequent (30-79%)HP:0000842
Increased facial hair growth
Frequent (30-79%)HP:0002219
Related Conditions
Small stature(parent)
Diabetes mellitus due to genetic defect in insulin action(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Congenital anomaly of skin(parent)
Premature ageing syndrome(parent)
Insulin resistance(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of endocrine system(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 111307005
- UMLS CUI
- C0265344
- Fully Specified Name
- Leprechaunism syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.