XX male syndrome and sex chromosome mosaicism

Overview

These differences are often found during infertility testing or puberty concerns.

A person has a male body but XX chromosomes.

Many are found during fertility testing.

Symptoms

Common signs:

• Found on testing

Less common

• Infertility
• Small testicles

When to get medical care

Causes

Chromosome changes.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Karyotype:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Ask about hormone and fertility options
• Talk with a genetic counselor

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a medical geneticist (genetics doctor).

Living with it

Support groups and helplines

• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Children, pregnancy, and older adults

• Teens: Puberty differences may lead to testing.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Most people are healthy.

Most live healthy lives.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?
• Should I see an endocrinologist?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on XX male syndrome and sex chromosome mosaicism