Living with 46,XX ovarian dysgenesis-short stature syndrome
A rare genetic condition that can bring short height, periods that never start, and ovaries that did not fully develop.
Understanding 46,XX ovarian dysgenesis-short stature syndrome
People have no periods (primary amenorrhea), short stature, and delayed bone age. Estradiol is low, and follicle-stimulating and luteinizing hormones are high. The uterus and ovaries may be absent or underdeveloped. Pubic and underarm hair come in late. Chromosomes are a typical 46,XX. GARD lists onset as teenager.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No periods (primary amenorrhea)
- Short stature
- Delayed bone maturation
- Low estradiol
- High follicle-stimulating hormone
- Low body weight
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, hormone specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in MCM9 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Resolve: The National Infertility Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the MCM9 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 46,xx ovarian dysgenesis, short stature syndrome; odg4; ovarian dysgenesis 4; ovarian dysgenesis type 4
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 46,XX ovarian dysgenesis-short stature syndrome.
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