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inherited primary ovarian failure - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

inherited primary ovarian failure

MONDO:0019852

Also known as:hereditary primary ovarian failureinherited POIinherited premature ovarian failure

Overview

An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome.

OnsetADULT, JUVENILE, CHILDHOOD, INFANTILE

Treatments1 FDA approved

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: adulthood, adolescence, childhood, infancy.

GeneReviews

Clinical Guidance

Ataxia-telangiectasia (A-T) is often described has having a "classic A-T" phenotype and a "variant A-T" phenotype; however, these phenotypes are more of a continuum ranging from classic A-T at the severe end to variant A-T at the milder end. Nonetheless, distinguishing between classic A-T and variant- A-T on this phenotypic spectrum helps understand differences in disease course, rate of progression, and life expectancy [, , , , , ]. Table 2. Ataxia-Telangiectasia: Comparison of Classic A-T and Variant A-T 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

No consensus clinical diagnostic criteria for ataxia-telangiectasia (A-T) have been published. The two scenarios in which A-T may be considered are for severe combined immunodeficiency and a .

Scenario 1: Abnormal Newborn Screening for Severe Combined Immunodeficiency

Newborn screening (NBS) for severe combined immunodeficiency (SCID), a severe but treatable immunologic disorder, relies on the identification of reduced T-cell receptor excision circle (TREC) levels in blood spots. Classic A-T. Newborns with classic A-T (who are still asymptomatic and undiagnosed) may have low TREC levels comparable to the TREC levels of newborns with SCID and, thus, may have a positive NBS. NBS for SCID most likely identifies about 50% of children with classic A-T .

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.

1 FDA-approved treatment is available for inherited primary ovarian failure, including MENOTROPINS (MENOPUR, approved 2004).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

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. Note the recommended surveillance is the same for individuals with classic A-T and variant A-T, with the exception that individuals who do not have evidence of lung disease at the time of the initial diagnosis do not require annual screening for pulmonary disease. Table 5. Ataxia-Telangiectasia: 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.

No clinical trials have been registered for inherited primary ovarian failure.

47 publications have been identified in PubMed for inherited primary ovarian failure. Research spans Basic Science / Preclinical (33%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Laboratory research	15	33%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:45 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:95710

GARD

Genetic and Rare Diseases Info Center

GARD:19294

Questions for Your Care Team

→What are the benefits and potential side effects of MENOPUR for managing inherited primary ovarian failure?
→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	Classic A-T	Variant A-T
Cerebellar ataxia	++	+, ±,
Extrapyramidal movement disorder	++	+, ±,
Peripheral neuropathy	+	+, ±,
Dysarthria	++	++
Dysphagia/feeding/nutrition issues	++	±
Oculomotor apraxia	++	+, ±,
Increased susceptibility to malignancy	++	++
Abnormal cognition behavior	±	?
Immunodeficiency	+	Ab
Infection	±	Ab
Pulmonary disease	+	Ab Endocrine abnormalities
Growth failure	++	?
Abnormal puberty	+	±,
Insulin resistance	+	±
Telangiectasias	+	+, ±, ++ = always present; + = usually present; ± = sometimes present; rarely present; Ab = absent; ? = although this feature has not been systematically studied in individuals with variant A-T, the authors feel that this is very uncommon in these individuals Neurologic.

GeneReviews

Management Guidelines

Most of the guidelines recommended for the management of health-related problems in individuals with ataxia-telangiectasia (A-T) are expert and evidence based, due to a lack of clinical trials; see (full text), , (full text), , and (full text). Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with ataxia-telangiectasia (A-T), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Ataxia-Telangiectasia: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Neurologic	By neurologist familiar w/A-T, when possible	Assess for ataxia (w/SARA1 /or ICARS) extrapyramidal movement disorders such as dystonia, chorea, parkinsonism, myoclonus tremor. Consider using specific scales for A-T such as A-T NEST2 or ATFS
Rehabilitation	Orthopedics/ physical medicine rehab/ PT OT eval	To incl assessment of:; Gross motor fine motor skills; Contractures scoliosis; Mobility, ADL, need for adaptive devices; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)
Dysarthria	By speech-language pathologist	Evaluate speech production language. Dysphagia/Feeding/
Nutrition	Nutrition/ feeding team eval	To incl eval of aspiration risk nutritional status; Consider eval for gastrostomy tube placement if nutritional status is poor /or if there is dysphagia /or risk of aspiration.
Oculomotor problems	Exam by neurologist	Specific eval by ophthalmologist or eye specialist not regularly required; only if indicated
Cognition/Behavior	By neurologist or OT familiar w/A-T, when possible	Usually not a concern. Because (moderate to) severe ID is not a hallmark of A-T, if there are such concerns, an additional cause should be sought.
Increased susceptibility to malignancy	Assessment by doctor of internal medicine/ pediatrician	In all persons:; Eval for clinical manifestations of malignancy (e.g., lymphadenopathy); Laboratory tests to assess for hematologic malignancies (per annual screening; see ) In adults: breast MRI (in females) abdominal echo (per annual screening; see )
Immunodeficiency	Assessment by immunologist	Evaluate:; For humoral cellular immune defects;; Whether immunoglobulin substitution therapy is indicated;; Vaccination status.
Infection	Assessment by primary care clinician/ pulmonologist	Assess for sinopulmonary infection.; Determine need for prophylactic antibiotic treatment.
Pulmonary disease	Assessment by immunologist/ pulmonologist/ doctor of internal medicine/ pediatrician	Assess for pulmonary function3 common causes of pulmonary disease.; Assess lung function when possible (often age 4 yrs).
Endocrine abnormalities	Assessment by doctor of internal medicine/ pediatrician	Assess length/height in children (using standard growth charts).; Assess age-appropriate pubertal development.; Screening for diabetes, cardiovascular disease, hepatic disease in adolescents adults
Genetic counseling	By genetics professionals4	To obtain a pedigree inform affected persons their families re nature, MOI, implications of A-T ( heterozygosity for an ATM pathogenic variant) to facilitate medical personal decision making Family support resources

Source: GeneReviews — "Ataxia-Telangiectasia"

System/Concern	Evaluation	Frequency/Timing
Educational needs	Screening for cognitive functioning any speech-language issues	Before becoming school age; once school age, annually; More frequently if problems are present or suspected
Behavior	Monitoring for social-emotional development	When starting kindergarten again when entering secondary school
ADL/Musculoskeletal	By PT, OT, /or rehab specialist	Per rehab team
Dysarthria/Communication	By SLP	Per treating SLP
Oculomotor problems	By ophthalmologist	Only if indicated
Immunodeficiency	By immunologist (immunoglobulin levels, white blood cell count)	Annually; More frequently if problems are present or suspected Infection
Increased susceptibility to malignancy	Clinical assessment for signs/symptoms of leukemia /or lymphoma incl for lymphadenopathy unexplained fever	Annually Blood count smear, immunoglobulin levels, M pro...

Kisho

inherited primary ovarian failure

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Scenario 1: Abnormal Newborn Screening for Severe Combined Immunodeficiency

Treatment

Approved Therapies

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Management Guidelines

Clinical Trials

Recent Publications

Latest News & Developments

Global downstream BMP15 pathway analysis in human ovarian granulosa cells reveals novel genetic variations associated with primary ovarian insufficiency.

inherited primary ovarian failure

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Scenario 1: Abnormal Newborn Screening for Severe Combined Immunodeficiency

Treatment

Approved Therapies

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Questions for Your Care Team

Questions for Your Care Team

Management Guidelines

Clinical Trials

Recent Publications

Latest News & Developments

Global downstream BMP15 pathway analysis in human ovarian granulosa cells reveals novel genetic variations associated with primary ovarian insufficiency.