Male infertility due to globozoospermia

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Male infertility due to globozoospermia

ORPHA:171709Clinical subtype

Also called Male infertility due to round-headed spermatozoa · Round-headed sperm syndrome

What it is

Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic sperm injection, are frequent.

Key facts

Age of onset
Adult
Inheritance
Autosomal recessive
Classified as
Clinical subtype

Genes

CATSPERTDisease-causing germline mutation(s)
DPY19L2Disease-causing germline mutation(s)
GGNDisease-causing germline mutation(s)
PICK1Disease-causing germline mutation(s)
PPP2R3CDisease-causing germline mutation(s)
SEPTIN4Disease-causing germline mutation(s) (loss of function)
SPATA16Disease-causing germline mutation(s)
ZPBPDisease-causing germline mutation(s)
GOPCCandidate gene tested

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

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 12502MONDO 0015746OMIM 102530OMIM 613958OMIM 618420UMLS C5679591

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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