Infertility associated with multi-tailed spermatozoa and excessive DNA(SPGF5)

MedGen UID:: 98020
•Concept ID:: C0403812
•: Disease or Syndrome

Synonyms:	Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa; SPERMATOGENIC FAILURE 5; SPGF5
SNOMED CT:	Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid (236806004); Infertility associated with multi-tailed spermatozoa and excessive DNA (236806004)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	AURKC (19q13.43)

Monarch Initiative:	MONDO:0009461
OMIM®:	243060
Orphanet:	ORPHA137893

Definition

Spermatogenic failure-5 (SPGF5) is a form of male infertility associated with large-headed, multiflagellar, polyploid spermatozoa (Dieterich et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Additional description

From MedlinePlus Genetics
Macrozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility).

In affected males, almost all sperm cells have abnormally large and misshapen heads. The head of the sperm cell contains the male's genetic information that is to be passed on to the next generation. Normally, the head of a sperm cell contains one copy of each chromosome. In men with macrozoospermia, the sperm cell head contains extra chromosomes, usually four copies of each instead of the usual one. This additional genetic material accounts for the larger head size of the sperm cell. Additionally, instead of having one tail (flagellum) per sperm cell, affected sperm have multiple flagella, most often four.

Because of the additional genetic material, if one of these abnormal sperm cells combines with an egg cell, the embryo will not develop or the pregnancy will result in miscarriage. https://medlineplus.gov/genetics/condition/macrozoospermia

Clinical features

From HPO

Male infertility

MedGen UID:: 5796
•Concept ID:: C0021364
•: Disease or Syndrome

The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.

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Multiflagellar spermatozoa