Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hypertrichosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrichosis

MONDO:0019280

Also known as:hypertrichosis (disease)

Find Clinical TrialsTrials

Overview

Excessive hair growth anywhere on the body.

OnsetCONGENITAL

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: at birth.

GeneReviews

Clinical Guidance

INSR-related severe insulin resistance syndrome (INSR-SIRS) comprises a phenotypic continuum from the severe phenotype of Donohue syndrome to the milder phenotype of Rabson-Mendenhall syndrome (RMS). To date, fewer than 100 individuals have been identified with INSR-SIRS . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. INSR-Related Severe Insulin Resistance Syndrome: Comparison of Phenotypes by Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

INSR-related severe insulin resistance syndrome (INSR-SIRS) should be suspected in individuals with the following , , and findings of Donohue syndrome or Rabson-Mendenhall syndrome (RMS).

Clinical Findings

Donohue syndrome

Source: GeneReviews — "INSR-Related Severe Insulin Resistance Syndrome"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for hypertrichosis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with INSR-related severe insulin resistance syndrome (INSR-SIRS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 4.

INSR-Related Severe Insulin Resistance Syndrome: Recommended Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended [, , , ]. Table 6. INSR-Related Severe Insulin Resistance Syndrome: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

183 publications have been identified in PubMed for hypertrichosis. Kisho has analyzed 72 by research type. Research spans Case Report / Case Series (33%), Review / Meta-Analysis (28%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Patient case studies	24

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79365

GARD

Genetic and Rare Diseases Info Center

GARD:18996

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Feature	Donohue Syndrome	Rabson-Mendenhall Syndrome
Hyperinsulinism	100%	100%
Diabetic ketoacidosis	+	100%
Genital enlargement	+	100%
Hypothyroidism	+	50% Growth
Intrauterine growth deficiency	100%	+
Postnatal growth deficiency	100%	60%-80% Neurologic
Hypotonia	100%	+
Developmental delay	100%	100%
Intellectual disability	100%	50%
Dysmorphic facial features	100%	100%
Integument abnormalities	100%	100%
Organomegaly	100%	60%-80%
Rectal hypertrophy /or prolapse	100%	+ Based on , , , , , , , + = reported feature; incidence unknown Donohue syndrome is characterized by severe insulin resistance, growth failure, hypotonia, developmental delay, characteristic facies, and organomegaly. Endocrine manifestations.

Differential Diagnosis

The differential diagnosis of INSR-related severe insulin resistance syndrome (INSR-SIRS) includes many rare disorders with hirsutism, severe growth deficiency, and developmental delay with other syndromic features, some of which are summarized in . Table 3. Selected Disorders of Interest in the Differential Diagnosis of INSR-Related Severe Insulin Resistance Syndrome

Gene(s)/ Genetic Mechanism	Disorder	MOI	Clinical Features of Disorder
Overlapping w/INSR-SIRS	Distinguishing from INSR-SIRS 11p15.5 hypomethylation,maternal UPD7, other causes1	Silver-Russell syndrome (SRS)	See footnote 1.
UCP2	Familial hyperinsulinism (FHI)	ADAR	Congenital hyperinsulinemia; Hypoglycemia (ranging from severe neonatal-onset disease to childhood-onset disease w/mild symptoms in FHI)3
Insulin levels are usually much higher in DS/RMS. AGPAT2BSCL2CAV1CAVIN1 (PTRF)	Berardinelli-Seip congenital lipodystrophy (BSCL) (OMIM PS608594)	AR	Congenital hyperinsulinemia; Insulin resistance4; Hepatomegaly (due to hepatic steatosis skeletal muscle hypertrophy in BSCL); Hypertrophic cardiomyopathy5
IGF1R	Resistance to insulin-like growth factor 1 (OMIM 270450)	ARAD	IUGR postnatal growth deficiency; Mildly impaired glucose tolerance6; Delayed psychomotor development; Mild dysmorphic features

Source: GeneReviews — "INSR-Related Severe Insulin Resistance Syndrome"

Kisho

hypertrichosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Endocrine

Nutrition/Feeding

Development

Cardiac

Renal

Liver/GI function

Dental

Clinical Guidance

Therapies Under Investigation

Recombinant Human Insulin-like Growth Factor 1 (rhIGF-1)

Clinical Trials

Recent Publications

hypertrichosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Endocrine

Nutrition/Feeding

Development

Cardiac

Renal

Liver/GI function

Dental

Clinical Guidance

Therapies Under Investigation

Recombinant Human Insulin-like Growth Factor 1 (rhIGF-1)

Clinical Trials

Recent Publications