IllnessAzoospermia syndrome, differential diagnosis [expanded]

NGS +

Male infertility can be characterised by the absence of a measurable amount of sperm in the ejaculate (azoospermia) or a number of sperm in the ejaculate below 15 million / ml (oligozoospermia). The sperm morphology may be normal. In obstructive azoospermia, spermatozoa are produced, but they cannot mix with the rest of the fluid in the ejaculate because of an obstruction of the seminal ducts. In non-obstructive azoospermia, spermatogenesis itself is disturbed. Among the known genetic causes (responsible for a third of all cases) of azoospermia or oligospermia are deletions of the AZF region of the Y chromosome and - more rarely - mutations of individual genes.

(Basic diagnostic genes: ###; additional gene: ###).

Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583155/

• Alias: Männliche Infertilität mit Azoospermie
• Allelic: Hydatidiform mole, recurrent, 3 (MEI1)
• Allelic: Ovarian dysgenesis 10 (ZSWIM7)
• Allelic: Premature ovarian failure 12 (SYCE1)
• Allelic: Premature ovarian failure 15 (FANCM)
• Allelic: Premature ovarian failure 18 (C14orf39)
• Allelic: Premature ovarian failure 20 (MSH4)
• Allelic: Premature ovarian failure 7 (NR5A1)
• Allelic: Premature ovarian failure 8 (STAG3)
• 46XX sex reversal 4 (NR5A1)
• 46XY sex reversal 3 (NR5A1)
• Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
• Adrenocortical insufficiency (NR5A1)
• Allelic: Ciliary dyskinesia, primary, 37 ((DNAH1)
• Allelic: Hydrocephalus, normal pressure, 1 (CFAP43)
• Androgen insensitivity (AR)
• Androgen insensitivity, partial, with/-out breast cancer (AR)
• Associated with nonobstructive azoospermia (NPAS2)
• Azoospermia, obstructive, with nephrolithiasis (CLDN2)
• Ciliary dyskinesia, primary, 3, with/-out situs inversus (DNAH5)
• Ciliary dyskinesia, primary, 7, with/-out situs inversus (DNAH11)
• Congenital adrenal hypoplasia (NR5A1)
• Congenital bilateral absence of vas deferens; Cystic fibrosis (CFTR)
• Endocrine disorders including disorders of sexual development (NR5A1)
• Glucocorticoid deficiency 4, with/_out mineralocorticoid deficiency (NNT)
• Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
• Hypospadias 1, XL (AR)
• Ideopathic primary adrenal failure (NR5A1)
• Male infertility from defect in meiosis (TEX11)
• Spermatogenic failure (DMRT1)
• Spermatogenic failure (MEI1)
• Spermatogenic failure 15 (SYCE1)
• Spermatogenic failure 18 (DNAH1)
• Spermatogenic failure 19 (CFAP43)
• Spermatogenic failure 2 (MSH4)
• Spermatogenic failure 20 (CFAP44)
• Spermatogenic failure 21 (BRDT)
• Spermatogenic failure 22 (MEIOB)
• Spermatogenic failure 23 (TEX14)
• Spermatogenic failure 24 (CFAP69)
• Spermatogenic failure 25 (TEX15)
• Spermatogenic failure 27 (AK7)
• Spermatogenic failure 28 (FANCM)
• Spermatogenic failure 33 (CFAP251)
• Spermatogenic failure 38 (ARMC2)
• Spermatogenic failure 40 (CHAP65)
• Spermatogenic failure 41 (CFAP70)
• Spermatogenic failure 44 (CEP112)
• Spermatogenic failure 48 (M1AP)
• Spermatogenic failure 49 (CFAP58)
• Spermatogenic failure 5 (AURKC)
• Spermatogenic failure 51 (CFAP91)
• Spermatogenic failure 52 (C14orf39)
• Spermatogenic failure 53 (ACTL9)
• Spermatogenic failure 54 (CATIP)
• Spermatogenic failure 57 (PNLDC1)
• Spermatogenic failure 60 (TERB1)
• Spermatogenic failure 61 (STAG3)
• Spermatogenic failure 63 (RPL10L)
• Spermatogenic failure 7 (CATSPER1)
• Spermatogenic failure 71 (ZSWIM7)
• Spermatogenic failure 75 (SHOC1)
• Spermatogenic failure 8 (NR5A1)
• Spermatogenic failure, XL 2 (TEX11)
• Spermatogenic failure, XL 3 (CFAP47)
• Spermatogenic failure, XL 4 (GCNA)
• Spinal and bulbar muscular atrophy of Kennedy (AR)