Donohue Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Donohue Syndrome?
An endocrinologist, a doctor who specializes in hormones, usually leads care. Geneticists help with testing and family counseling. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Donohue syndrome is a very rare condition a baby is born with. It affects how the body uses insulin, a hormone that moves sugar from food into cells for energy. In Donohue syndrome, cells do not respond to insulin properly, a problem called insulin resistance. The body then makes far more insulin than normal, and sugar builds up in the blood. It is also sometimes called leprechaunism.
Symptoms
Babies with Donohue syndrome are often small before birth and grow slowly afterward. They may have very little fat under the skin, making the face look thin and the muscles look large. Other signs include a large mouth with thick lips, big low-set ears, wide nostrils, and dark, thick skin folds around the neck and joints. Many babies have body hair, an enlarged clitoris or penis, and a big belly. High or low blood sugar and frequent infections can also happen.
Causes and who gets it
Donohue syndrome is caused by changes in a gene called INSR, which carries instructions for making insulin receptors. A baby must inherit one changed copy from each parent. It is extremely rare, with only a few dozen cases reported worldwide, and affects boys and girls equally.
How doctors diagnose it
Doctors often suspect Donohue syndrome from a baby's appearance and growth problems soon after birth. Blood tests showing very high insulin levels support the diagnosis, and genetic testing can confirm it.
Treatment
There is no cure, so treatment focuses on managing symptoms with high-dose insulin or other drugs that improve insulin response, good nutrition, treatment of infections, and regular monitoring by specialists.
When to see a doctor
Parents should see a doctor if a baby is growing very slowly, has unusual facial features, or has dark, thick skin patches. Extreme sleepiness, poor feeding, or frequent infections also need prompt attention.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can offer longer appointments and easier access, manage routine monitoring and follow-up, and coordinate referrals to an endocrinologist or genetic specialist.
Common questions
Can Donohue syndrome be prevented?
There is no known way to prevent it, because it is genetic. Families with a history of it can talk to a genetic counselor about the chances of passing it to a child.
How long do children with Donohue syndrome usually live?
The condition can be life threatening in early childhood, and many reported cases involve death in the first few years. However, severity varies, and some children live longer with careful medical care.
Is Donohue syndrome the same as diabetes?
It is not the same, but they are related. Donohue syndrome involves severe insulin resistance, also seen in type 2 diabetes, but it is present from birth and caused by a changed gene.
Can parents have another child with Donohue syndrome?
If both parents carry one changed copy of the INSR gene, each pregnancy has a one in four chance of being affected. Genetic counseling can help clarify the risk.
Sources
- NIH Genetic and Rare Diseases Information Center - Donohue syndrome
- MedlinePlus Genetics - Donohue syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
