skin abnormalities on the glans or shaft, and no tunica albuginea plaques. Scrotal exam demonstrated 12 mL testis on the right, 10 mL testis on the left. Both testicles descended within the scrotum and there was no testicular mass, tenderness, and any evidence of a varicocele. Vasa are palpable bilaterally.

Two semen analyses were obtained by masturbation, separated by 2 weeks in time. The rst semen analysis demonstrated a volume of 2.5 mL, 0.2 million sperm/mL, 5% motile sperm, 3% normal morphology, and no leukocytes. His second semen analysis demonstrated a volume of 2.8 mL, 0.15 million sperm/ mL, 3% motile sperm, 3% normal morphology, and no leukocytes. Karyotype was 46, XY and Y-chromosome microdeletion (YCMD) assay was negative. Total testosterone was 478 ng/dL and follicle-stimulating hormone (FSH) level was 4.9 IU/mL.

Given very low sperm count and motility, in vitro fertilization (IVF) was recommended. Patient was instructed to bank multiple vials of sperm. IVF in conjunction with intracytoplasmic sperm injection (ICSI) was performed. After the rst round of IVF, his wife became pregnant and gave birth to a healthy baby girl.

Discussion

Infertility affects approximately 15% of couples worldwide, with approximately half of cases due to male factor. Recent guidelines were published by the American Urological Association (AUA) and the American Society for Reproductive Medicine (ASRM) regarding evaluation of the infertile male, which allows for physicians taking care of these patients evaluating these infertile men in an evidence-based manner [1].

History

Men with concern for infertility or abnormal semen analyses should undergo evaluation by a male reproductive health specialist. A comprehensive reproductive and sexual history should be obtained. The components of a comprehensive history for evaluation of male infertility are documented in Table 23.1.

Physical Exam

The physical exam during infertility workup should be focused but also comprehensive. Recent studies have shown that infertility may be the rst sign of systemic disease present in an individual. First, general appearance should be

appreciated and any congenital abnormalities, syndromic features, secondary sexual characteristics, and body habitus should be documented. Masculinization in terms of hair distribution and gynecomastia should also be noted. During the abdominal and inguinal survey, one should examine the areas for well-healed scars that may indicate prior surgical procedures. Next, one should perform a thorough penile and scrotal exam. The penis should be examined for appropriate development, circumcision status, and location of meatus (to determine if hypospadias or epispadias is/was present—which may indicate abnormal development in utero). Scrotal exam should include assessment of the spermatic cord, testis, and epididymis. Spermatic cord examination should note presence or

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Genetic Testing

For any male with primary infertility and azoospermia or severe oligozoospermia (total sperm count <5 million/mL), karyotype and Y-chromosome microdeletion (YCMD) testing should be performed [1]. Chromosomal anomalies, such as Klinefelter syndrome (most commonly with a karyotype of 47, XXY), may be the underlying etiology for infertility. It is not uncommon for some men to berst diagnosed with Klinefelter syndrome during their fertility evaluation as young adults.

Three distinct azoospermia factor regions (AZF) of the Y-chromosome responsible for spermatogenesis are termed AZFa, AZFb, and AZFc. Microdeletions in these regions can result in severe spermatogenic dysfunction. Each region encodes for various genes with varying importance in spermatogenesis, and deletions of the various AZF factors can be partial, complete or in combination. Microdeletions in these regions are not detectable by karyotype and instead require polymerase chain reaction for detection. The presence of Y-chromosome microdeletions carries important prognostic information. AZFc microdeletions are the most common (up to 80%), followed by AZFb (5%) and AZFa (4%) [5]. Men with AZFa and AZFb are unable to father biological children as no sperm has been documented to be surgically retrieved in the literature. In contrast, men with AZFc demonstrate a range of spermatogenic dysfunction varying from being able to naturally conceive children to being completely azoospermic. Azoospermic men with complete AZFc deletions who undergo microdissection testicular sperm extraction (microTESE) have reported sperm retrieval rates up to 67% [6].

In men with vasal agenesis or idiopathic obstructive azoospermia, Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutation carrier testing should be obtained [1]. In men with CBAVD, CFTR testing in the female partner should also be considered given the signi cant health implications of having offspring with cystic brosis. It is important to note that when obtaining CFTR mutation carrier testing that an extended panel of mutations, including the 5T allele, should be included to ensure no mutations are missed [1]. It is estimated that up to 80% of men with congenital bilateral absence of the vas deferens, and approximately 20% of men with congenital unilateral absence of the vas deference or idiopathic epididymal obstruction harbor CFTR gene mutations [7].

Adjunctive Tests

Adjunctive tests that can be performed include sperm DNA fragmentation (SDF) analysis and anti-sperm antibody (ASA) testing. However, current guidelines recommend that initial evaluation of infertile couples should not make use of these tests [1]. SDF analysis may be considered in the setting of unexplained infertility, recurrent pregnancy loss, recurrent intrauterine insemination (IUI) or IVF failure,

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