Living with Polyendocrine-polyneuropathy syndrome
A rare genetic condition starting in childhood that affects hormones and the nervous system, with growth, learning and nerve problems.
Understanding Polyendocrine-polyneuropathy syndrome
It begins in childhood. Reported features include slow growth, moderate intellectual disability, low sex hormones, diabetes, an underactive thyroid, nerve damage in the arms and legs, and coordination problems. Progressive hearing loss and a small pituitary gland have also been described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth in childhood
- Moderate intellectual disability
- Low sex hormone levels (hypogonadism)
- Diabetes
- Nerve damage causing weakness (polyneuropathy)
- Poor balance and trouble speaking clearly
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 brain and nervous system specialists, genetic specialists, hormone specialists and maternal-fetal medicine specialists.
- 3Consider genetic testing
Changes in DMXL2 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, The Foundation for Peripheral Neuropathy and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
- Expert care
- Expert lists: Resolve: The National Infertility Association, The Foundation for Peripheral Neuropathy, Pituitary Network 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 and other patient organizations
- 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 DMXL2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: pepns; pepns - polyendocrine polyneuropathy syndrome; polyendocrine polyneuropathy syndrome
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Polyendocrine-polyneuropathy syndrome.
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