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Male infertility

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Male infertility due to large-headed multiflagellar polyploid spermatozoa

ORPHA:137893Clinical subtype

Also called Macrocephalic sperm head syndrome · Male infertility due to macrozoospermia

What it is

A rare male infertility due to a sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy).

Key facts

Inheritance
Autosomal recessive
Classified as
Clinical subtype

Recorded for the broader condition

Age of onset
Adolescent, AdultMale infertility with teratozoospermia due to single gene mutation

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Genes

AKAP3Disease-causing germline mutation(s) (loss of function)
ARMC12Disease-causing germline mutation(s) (loss of function)
AURKCDisease-causing germline mutation(s) (loss of function)
CFAP47Disease-causing germline mutation(s)
CFAP61Disease-causing germline mutation(s)
DNAH10Disease-causing germline mutation(s)
DNHD1Disease-causing germline mutation(s)
IFT74Disease-causing germline mutation(s)

ICD-10 codes

N46filed under a broader ICD-10 category — shared with 6 other rare diseases

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

Male Infertility

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

Cross-references

GARD 12385MESH C562903MONDO 0009461OMIM 243060OMIM 301059OMIM 619515OMIM 619585OMIM 619712OMIM 620353OMIM 620409OMIM 620744UMLS C0403812

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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