Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

What it is

A rare endocrine disease characterized by hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. Patients have decreased axillary and pubic hair growth, hypoplastic external genitalia, and small uterus and ovaries. No additional physical development abnormalities or intellectual deficiency are reported. There have been no further descriptions in the literature since 1981.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

No data available

Inheritance

Unknown

Classified as

Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references