Living with Hypogonadism with anosmia
A condition, also called Kallmann syndrome, with delayed or absent puberty and a reduced sense of smell.
Understanding Hypogonadism with anosmia
It is present from birth because of a lack of gonadotropin-releasing hormone, which drives sexual development. It is often found at puberty when sexual development does not start. In infancy it may be suspected in males with undescended testicles or a small penis. Without treatment, adult males may have lower bone density and muscle mass, and infertility. Untreated females usually have no periods and little or no breast development.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed or absent puberty
- Reduced or lost sense of smell
- Lower fertility
- Small testicles or undescended testicles
- Underdeveloped breasts
- Lower bone density
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, maternal-fetal medicine 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 and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association, 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 genes (also called variants) cause this condition. Most cases are not inherited, but some are. GARD lists autosomal dominant, autosomal recessive, and X-linked inheritance, depending on the gene.
Also known as: anosmia eunuchoidism; anosmic hypogonadism; anosmic idiopathic hypogonadotropic hypogonadism; congenital hypogonadotropic hypogonadism with anosmia; dysplasia olfactogenitalis of de morsier; dysplasia olfactogenitalis of de morsier (formerly)
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypogonadism with anosmia.
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