Living with Primary hypergonadotropic hypogonadism-partial alopecia syndrome
A rare inherited syndrome with underactive sex glands that do not respond to signals from the brain, plus patchy scalp hair loss.
Understanding Primary hypergonadotropic hypogonadism-partial alopecia syndrome
In hypergonadotropic hypogonadism, the gonads make low sex hormones even though the brain's signals to them are high. Features include delayed puberty, missing or underdeveloped ovaries or uterus, low estrogen or testosterone, and hair loss on the scalp and eyebrows. It starts around birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underactive sex glands (hypogonadism)
- Delayed puberty
- Patchy hair loss on the scalp
- Thin or missing eyebrows
- Slow growth
- Small head size (microcephaly)
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 and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); 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
GARD says changes in genes cause this condition but doesn't name a gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: al awadi-farag-teebi syndrome; hypergonadotropic hypogonadism and partial alopecia
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 Primary hypergonadotropic hypogonadism-partial alopecia syndrome.
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