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Spermatogenic failure 4(SPGF4)

MedGen UID:
Concept ID:
Pathologic Function
Synonyms: Arrest of spermatogenesis; Azoospermia due to Perturbations of Meiosis; AZOOSPERMIA WITH MATURATION ARREST; PREGNANCY LOSS 4; Spermatogenesis arrest
SNOMED CT: Spermatogenic arrest (85716005); Spermatogenesis arrest (85716005); Aspermatogenesis (85716005)
Gene (location): SYCP3 (12q23.2)
Monarch Initiative: MONDO:0010052
OMIM®: 270960


Azoospermia, a condition in which there are no sperm present in the ejaculate, has historically been divided into 2 broad categories, obstructive (e.g., 277180) and nonobstructive. Among the genetically based, inherited nonobstructive causes are defects of spermatogenesis, which may interrupt the development of the sperm at various stages, either before (e.g., 415000) or during meiosis. SPGF4 is a form of azoospermia due to perturbations of meiosis. For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). Recurrent Pregnancy Loss Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks' gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by Rai and Regan, 2006). Pregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks' gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for recurrent pregnancy loss include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by Warren and Silver, 2008). For a discussion of genetic heterogeneity of recurrent pregnancy loss, see RPRGL1 (614389). [from OMIM]

Clinical features

From HPO
MedGen UID:
Concept ID:
Disease or Syndrome
Absence of any measurable level of sperm in his semen.
Male infertility
MedGen UID:
Concept ID:
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.
Recurrent spontaneous abortion
MedGen UID:
Concept ID:
Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.

Professional guidelines


Pajarinen J, Savolainen V, Perola M, Penttilä A, Karhunen PJ
Int J Androl 1996 Jun;19(3):155-63. doi: 10.1111/j.1365-2605.1996.tb00456.x. PMID: 8876265

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