Male infertility with azoospermia or oligozoospermia due to single gene mutation

What it is

From: Orphanet

A rare, genetic male infertility due to a sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.

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.

Abnormal spermatogenesis · Very frequent (99-80%)

Incomplete maturation or aberrant formation of the male gametes.

Azoospermia · Very frequent (99-80%)

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

Decreased testicular size · Very frequent (99-80%)

Reduced volume of the testicle (the male gonad).

Increased circulating gonadotropin level · Very frequent (99-80%)

Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.

Non-obstructive azoospermia · Very frequent (99-80%)

Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.

Phenotypic abnormality · Very frequent (99-80%)

A phenotypic abnormality.

Obstructive azoospermia · Frequent (79-30%)

Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.

When it may begin

From: Orphanet

Adolescent; Adult

Inheritance in the source

From: Orphanet

Autosomal dominant; Autosomal recessive; X-linked recessive

Which doctor should you see?

The suggested department for discussing Male infertility with azoospermia or oligozoospermia due to single gene mutation is Reproductive Medicine, with a fertility specialist; gynaecologist or urologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

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.

• What information is needed from each relevant partner?
• What can the proposed tests explain, and what are their limitations?
• What are the likely next steps, time commitments and costs?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Male infertility with azoospermia or oligozoospermia due to single gene mutation. 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.