Living with 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
A rare genetic condition that affects the gonads and the nerves, causing numbness, weakness, and muscle cramps.
Understanding 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
The gonads are partly or completely underdeveloped. People often have a female appearance but XY chromosomes, and periods do not start (primary amenorrhea). Nerve damage brings numbness, weakness, exercise-induced muscle cramps, and reduced reflexes. Germ cell tumors may develop from the gonadal tissue. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Gonads that did not develop fully
- No periods (primary amenorrhea)
- Numbness and loss of feeling in hands and feet
- Nerve damage with weakness (sensorimotor neuropathy)
- Muscle shrinking (atrophy)
- Reduced reflexes
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 DHH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 DHH 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,xy gonadal dysgenesis with minifascicular neuropathy; 46xy gonadal dysgenesis with minifascicular neuropathy
Patient organizations
Rare-disease groups that can help
- 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,XY gonadal dysgenesis-motor and sensory neuropathy syndrome.
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