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primary hypergonadotropic hypogonadism-partial alopecia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary hypergonadotropic hypogonadism-partial alopecia syndrome

MONDO:0009420

Also known as:Al Awadi-Farag-Teebi syndromehypergonadotropic hypogonadism and partial alopecia

Overview

This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.

GeneticsAutosomal recessive

Clinical Presentation

Features include: Alopecia, Hypergonadotropic hypogonadism, and Streak ovary.

Organ System	Phenotype Count	Example Features
Skin	1	Alopecia
Hormones	1	Hypergonadotropic hypogonadism

Explore clinical features

Diagnosis

Biomarker and diagnostic research for primary hypergonadotropic hypogonadism-partial alopecia syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

No clinical trials have been registered for primary hypergonadotropic hypogonadism-partial alopecia syndrome.

102 publications have been identified in PubMed for primary hypergonadotropic hypogonadism-partial alopecia syndrome. Kisho has analyzed 47 by research type. Research spans Other (45%), Review / Meta-Analysis (30%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Other research	21	45%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:241090

Orphanet

European rare disease database

Orphanet:2232

GARD

Genetic and Rare Diseases Info Center

GARD:16588

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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primary hypergonadotropic hypogonadism-partial alopecia syndrome

Overview

Clinical Presentation

Explore clinical features

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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