IllnessAzoospermia syndrome, differential diagnosis

1. AZF
2. NGS + [Sanger]

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: Premature ovarian failure 12 (SYCE1)
• Allelic: Premature ovarian failure 15 (FANCM)
• 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: Cataract 36 (TDRD7)
• Allelic: Denys-Drash syndrome (WT1)
• Allelic: Frasier syndrome (WT1)
• Allelic: HARP syndrome (PANK2)
• Allelic: Meacham syndrome (WT1)
• Allelic: Nephrotic syndrome, type 4 (WT1)
• Allelic: Neurodegeneration with brain iron accumulation 1 (PANK2)
• Allelic: Premature ovarian failure 20 (MSH4)
• Allelic: Wilms tumor, type 1 (WT1)
• Androgen insensitivity (AR)
• Androgen insensitivity, partial, with/-out breast cancer (AR)
• Associated with nonobstructive azoospermia (NPAS2)
• Bronchiectasis +/- elevated sweat chloride 1 (SCNN1B)
• Congenital adrenal hypoplasia (NR5A1)
• Congenital bilateral absence of vas deferens; Cystic fibrosis (CFTR)
• Endocrine disorders including disorders of sexual development (NR5A1)
• Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
• Hypospadias 1, XL (AR)
• Ideopathic primary adrenal failure (NR5A1)
• Liddle syndrome 1 (SCNN1B)
• Male infertility from defect in meiosis (TEX11)
• Pseudohypoaldosteronism, type IB2, AR (SCNN1B)
• Spermatogenic failure (DMRT1)
• Spermatogenic failure (MEI1)
• Spermatogenic failure 1 (SYCP2)
• Spermatogenic failure 15 (SYCE1)
• Spermatogenic failure 2 (MSH4)
• Spermatogenic failure 22 (MEIOB)
• Spermatogenic failure 23 (TEX14)
• Spermatogenic failure 25 (TEX15)
• Spermatogenic failure 28 (FANCM)
• Spermatogenic failure 48 (M1AP)
• Spermatogenic failure 5 (AURKC)
• Spermatogenic failure 60 (TERB1)
• Spermatogenic failure 61 (STAG3)
• Spermatogenic failure 7 (CATSPER1)
• Spermatogenic failure 75 (SHOC1)
• Spermatogenic failure 8 (NR5A1)
• Spermatogenic failure 9 (DPY19L2)
• Spermatogenic failure, XL, 2 (TEX11)
• Spinal and bulbar muscular atrophy of Kennedy (AR)