Male Infertility Diagnoses

Diagnoses (by semenalysis finding)

Semenalysis finding Further workup Interpreting findings
Azoospermia (absent sperm) Semenalysis Low volume + acidic pH indicates obstruction
Testis size Cutoff testis axis 4.6cm determines whether obstruction present
Vas deferens Absence indicates obstruction
FSH Cutoff 7.6IU/L determines whether obstruction present
Karyotype + Y Microdeletion (if elevated FSH or testicular atrophy) Kleinfelter and Y deletions are most common causes of non-obstructive azoospermia
TRUS (if normal T and vas, obstruction suspected) Confirm ejaculatory duct obstruction
Low volume History Caused by DM, SCI, RPLND
Post-ejaculate urinalysis Confirms sperm ending up in bladder
Round cells > 1mil/mL Special stains Differentiate pyospermia from germ cells
Sperm agglutination Antisperm antibody testing ICSI may be indicated for ASA instead of IUI
Poor sperm mobility Viability testing Assess whether nonmotile sperm can be used for ICSI

Indications for Further Testing

Test Indication If positive:
Post-ejaculate urinalysis Low-volume ejaculate Sperm retrieval
Karyotype Nonoobstructive azoospermia microTESE (for Kleinfelter)
Repeat pregnancy loss Sperm aneuploidy - ICSI, adoption, donor sperm
Y microdeletion Nonobstructive azoospermia Adoption (AZFa/AZFb) or ICSI (AZFc)
Transrectal US Obstructive azoospermia + low volume/pH + normal T + palpable vas TURED
CFTR gene panel Absent vas deferens Test female partner
TESE
Sperm DNA fragmentation Repeat IVF failure
Repeat pregnancy loss
TESE + ICSI
Antisperm antibody testing Concern for obstruction, azoospermia, agglutination Recommend ICSI
Do not order if already planning ICSI
Scrotal US Assess for varicocele in difficult scrotum (obese, high + tight) Discuss clinical relevance of US varicocele
Abdominal imaging Assess for malignant cause of new or nonreducible large right varicocele
Renal US Assess for renal absence if vas absent unilaterally (26-75%) or bilaterally (10%)

Diagnoses broken down by cause

Infertility Grouping Diagnosis Findings Treatment
Gonadotropin Dysfunction Kallman syndrome Hypogonadotropic hypogonadism
Anosmia
HCG + FSH, GnRH pump
Incomplete hypoandrogenism Increased LH
Decreased T
Clomiphene/Tamoxifen
Anostrozole/Letrozole
Pituitary tumors Elevated prolactin
MR imaging if prolactin elevated (> 50ug/L)
Bromocriptine/Cabergoline
Transsphenoidal surgery
Exogenous suppression Specific hx steroids or other drugs Stop offening agent(s)
Testicular dysfunction Kleinfelter (XXY) azoospermia (92%) + small testes + hypergonadotropins
mosaic in 10-20%
microTESE + IVF/ICSI
Leydig cell (steroidogenic) dysfunction Elevated LH
Decreased T
microTESE + IVF/ICSI
Y Microdeletions azoospermia (AZFa/AZFb) Adoption, donor sperm
oligospermia (AZFc) microTESE + IVF/ICSI
Antisperm antibodies secondary to blood/testis barrier breakdown IVF/ICSI
Varicocele Physical exam Surgical repair
DNA Fragmentation Assess after repeat IVF failure TESE + ICSI
Transportation Dysfunction Absence of Vas Deferens Physical exam findings
History renal agenesis
TESE + IVF
Congenital Bilateral Absence of the Vas Deferens (CBAVD) CFTR mutation CFTR screen panel
TESE + IVF
Hypospadias
Epispadias
Physical exam findings Intrauterine insemination
Ejaculatory duct obstruction Azoospermia + Hypovolemia
TRUS findings (SV > 15mm AP, ED > 2.3mm)
TURED
Retrograde ejaculation Azoospermia + Hypovolemia
Sperm on post-ejaculate urinalysis
Sperm retrieval (alkalinize with bicarb)
Sympathomimetic agents (25% success)
Anejaculation Neurologic history
Prior RPLND
Penile vibratory device
Electroejaculation

References