Deafness-infertility syndrome

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Deafness-infertility syndrome is a condition characterized by hearing loss and difficulty conceiving children (a condition called infertility). Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Individuals with this condition produce sperm that have decreased movement (motility). As a result, they cannot conceive without assisted reproductive technologies.

Causes and biological mechanisms

From: MedlinePlus Genetics, National Library of Medicine

Deafness-infertility syndrome is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of deafness-infertility syndrome are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers have determined that the loss of two specific genes on chromosome 15 is responsible for the main features of this condition. The loss of the STRC gene, which plays a role in the generation of nerve impulses that get interpreted as sound, is responsible for hearing loss. The loss of another gene, CATSPER2, which plays a role in sperm motility, is responsible for the sperm abnormalities. Researchers are working to determine how the loss of additional genes in the deleted region affects people with deafness-infertility syndrome.

Inheritance and family implications

From: MedlinePlus Genetics, National Library of Medicine

Deafness-infertility syndrome is inherited in an autosomal recessive pattern, which means both copies of chromosome 15 in each cell have a deletion. The parents of an individual with deafness-infertility syndrome each carry one copy of the chromosome 15 deletion, but they typically do not show symptoms of the condition.

Males (with one Y chromosome) who have two chromosome 15 deletions in each cell have deafness-infertility syndrome. Females (with two X chromosomes) who have two chromosome 15 deletions in each cell have sensorineural deafness as their only symptom. They do not produce sperm and so are not affected by the CATSPER2 gene deletions.

How common is it?

From: MedlinePlus Genetics, National Library of Medicine

The prevalence of deafness-infertility syndrome is unknown. It is likely under diagnosed in people with hearing loss.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Azoospermia · Very frequent (99-80%)

Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.

Sensorineural hearing impairment · Very frequent (99-80%)

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

Male infertility · Very frequent (99-80%)

Which doctor should you see?

The suggested department for discussing Deafness-infertility syndrome is ENT, with a ent specialist / otorhinolaryngologist as the relevant type of clinician. ENT specialist / Otorhinolaryngologist; paediatric services for children as appropriate.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Is the main issue hearing, balance, the nose, the throat or another structure?
• Which changes in swallowing, voice or breathing need prompt attention?
• Would hearing, speech or other rehabilitation support be useful?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Deafness-infertility syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.