Living with Hypogonadotropic hypogonadism 1 with or without anosmia
An inherited condition with delayed or absent puberty and a reduced sense of smell.
Understanding Hypogonadotropic hypogonadism 1 with or without anosmia
Other symptoms may include color blindness, cleft lip or palate, unusual eye movements, hearing loss, a missing kidney, mirror hand movements, tooth differences, and infertility. Males are usually born with a small penis and undescended testicles. Females usually do not start periods at puberty and have little or no breast development.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low sex hormone levels
- Delayed or absent puberty
- Small penis (micropenis)
- Small scrotum
- Reduced sense of smell
- Low testosterone
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 KAL1 gene cause this condition. It is inherited in an X-linked recessive way, meaning the gene is on the X chromosome.
Also known as: anos1 hypogonadotropic hypogonadism; hh1; hypogonadotropic hypogonadism 1 with anosmia; hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1); hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1), x-linked recessive; hypogonadotropic hypogonadism and anosmia
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 Hypogonadotropic hypogonadism 1 with or without anosmia.
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