Ultrasound Insights into Azoospermia: Diagnosing Testicular Hypoplasia and CBAVD

An ultrasound scan of a male patient with infertility and azoospermia revealed the following:

Description of Ultrasound Imaging Findings

1. Testes:

Small testes with volume <2 cc, significantly below the normal range (12–25 cc).

Poor vascularity on color Doppler, indicating reduced blood flow.

2. Bilateral Grade 1 Varicocele:

Mild dilation of the pampiniform plexus.

3. Transrectal Ultrasound (TRUS):

Small seminal vesicles, potentially hypoplastic.

Possibly absent vas deferens, indicated by its non-visualization.

Normal prostate with no abnormalities detected.

Differential Diagnoses:

1. Congenital Bilateral Absence of the Vas Deferens (CBAVD):

Commonly associated with cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations.

May present with hypoplastic or absent seminal vesicles and azoospermia.

2. Primary Testicular Failure (Hypogonadism):

Testicular atrophy and poor vascularity may indicate failure of spermatogenesis.

Causes include genetic syndromes like Klinefelter syndrome, previous orchitis, or trauma.

3. Y-Chromosome Microdeletions:

Specifically in the AZF region, leading to testicular dysfunction and azoospermia.

4. Obstructive Azoospermia:

Secondary to structural anomalies like CBAVD or scarring.

5. Secondary Hypogonadism:

If associated with pituitary or hypothalamic dysfunction, but this is less likely given the absent vas deferens.

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Most Likely Diagnosis

Congenital Bilateral Absence of the Vas Deferens (CBAVD):

The combination of small testes, poorly vascular testes, azoospermia, small seminal vesicles, and absent vas deferens strongly suggests CBAVD.

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Prognosis

Fertility:

Natural conception is not possible.

Sperm retrieval techniques (e.g., testicular sperm extraction, TESE) combined with intracytoplasmic sperm injection (ICSI) may be viable for fathering biological children.

Overall Health:

Usually, no systemic health effects unless associated with CFTR mutations.

If CFTR-related, patients may have subclinical or overt cystic fibrosis symptoms (e.g., recurrent respiratory infections, pancreatitis).

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Management

1. Diagnostic Confirmation:

Genetic testing for CFTR mutations and Y-chromosome microdeletions.

Hormonal evaluation (FSH, LH, testosterone) to differentiate primary vs. secondary causes.

2. Fertility Options:

Referral to a fertility specialist.

Consideration of TESE with ICSI.

Partner evaluation for CFTR carrier status if CFTR mutation is confirmed.

3. Counseling:

Address psychological and emotional aspects of azoospermia.

Genetic counseling if hereditary factors are identified.

4. Monitoring:

Regular follow-ups for any complications or related health concerns (e.g., cystic fibrosis symptoms).

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#UltrasoundDiagnosis

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#FertilityCare