- •Series Editor Foreword
- •Preface
- •Contents
- •Contributors
- •Differential Diagnosis
- •Evaluation
- •Treatment
- •Discussion
- •References
- •Background
- •Normal Pubertal Stages
- •Differential Diagnosis of Precocious Puberty
- •Evaluation [1, 3, 4]
- •Treatment [1, 2]
- •Discussion
- •References
- •Background
- •Differential Diagnosis of Delayed Puberty
- •Evaluation
- •History and Physical Examination
- •Laboratory Investigation and Imaging
- •Treatment
- •Discussion
- •Suggested Readings
- •Discussion
- •Differential Diagnosis
- •References
- •Discussion
- •References
- •Differential Diagnosis
- •Evaluation
- •Treatment
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •Interpretation of Thyroid Function Tests (TFTs)
- •Iodine Supplementation for Pregnancy and Lactation
- •Screening for Maternal Hypothyroidism
- •Maternal Subclinical Hypothyroidism
- •Thyroid Autoimmunity
- •Maternal Hyperthyroidism: Diagnosis
- •Maternal Hyperthyroidism: Treatment
- •Postpartum Thyroiditis
- •Summary
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •Intrauterine Pathology
- •Thin Lining
- •Endometrial Receptivity Analysis (ERA)
- •Chronic Endometritis
- •Conclusion
- •References
- •Discussion
- •References
- •Discussion
- •History
- •Physical Exam
- •Semen Analysis
- •Laboratory Testing
- •Genetic Testing
- •Adjunctive Tests
- •Imaging
- •References
- •Discussion
- •Pathophysiology
- •Evaluation
- •Treatment
- •Lifestyle Changes
- •Medications
- •Phosphodiesterase 5 Inhibitors
- •Vacuum Erection Device
- •Intraurethral Alprostadil
- •Intracavernosal Injections
- •Surgery
- •References
- •Discussion
- •History
- •Semen Analysis
- •Physical Examination
- •Proper Varicocele Examination
- •Laboratory Investigations
- •Additional Investigations for the Pain Include
- •Other Investigations for Infertility in the Context of Varicoceles
- •Treatment
- •Indications for Varicocele Treatment Include the Following
- •Numerous Treatments for Varicocele Exist
- •References
- •Discussion
- •Semen Analysis
- •History and Physical Examination
- •Laboratory Investigations
- •Testicular Biopsy
- •Treatment
- •Surgical Techniques for Sperm Retrieval [13]
- •Fresh Vs. Frozen Sperm
- •Counseling
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Background
- •Epidemiology
- •Evaluation
- •Treatment
- •Non-ART Treatment
- •Accelerated Utilization of ART
- •ART Success Rates
- •Recent Trends in ART
- •Discussion
- •Conclusion
- •Suggested Readings
- •Evaluation
- •Differential Diagnosis
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •References
- •Discussion
- •Suggested Readings
- •Diagnosis
- •Management
- •Discussion
- •References
- •Index
176 |
N. Punjani and P. Schlegel |
unprotected intercourse every other day around the time of ovulation. They do not use any lubricant.
On general examination, BX had no dysmorphic or syndromic features. His height was 5 ft. 10 in., and weight was 170 lbs. He has a normal muscular build with no evidence of gynecomastia. Abdominal examination did not reveal any scar, mass or evidence of hernia repair. His genitourinary examination revealed a normal-sized, circumcised phallus. His meatus was in the orthotopic position and patent. Testicular examination demonstrated a volume of 12 cc bilaterally that were normal in consistency. Epididymis was fat and both vas deferens were palpable.
Bloodwork revealed a normal testosterone of 600 ng/dL but FSH level was 21 IU/L. Given his high FSH level and the clinical presentation, which was suggestive of non-obstructive azoospermia (NOA), a karyotype and Y-microdeletion studies were performed. His karyotype was 46, XY andY-chromosomal studies revealed an AZFc deletion.
BX underwent genetic counseling regarding his AZFc deletion. This couple remained interested in having children and underwent in vitro fertilization (IVF) and micro-TESE (microsurgical testicular sperm extraction) on the day of oocyte retrieval. Sperm retrieved were used for intracytoplasmic sperm injection (ICSI). A viable pregnancy was achieved after a single embryo transfer which led to a term delivery of a healthy child.
Discussion
Azoospermia may be etiologically grouped into three different categories, pre- testicular (2%), testicular (49–93%), and post-testicular (7–51%) [1]. It can also be categorized as obstructive (OA) or non-obstructive (NOA). Pre-testicular etiologies are the least common and often relate to underlying endocrine abnormalities including issues with their hypothalamic-pituitary axis which impact upon spermatogenesis. They are generally classi ed as secondary testicular failure. A list of some speci c conditions includes [1, 2]:
•\ Congenital conditions (i.e., Kallmann syndrome, non-Kallmann idiopathic hypogonadotropic hypogonadism, Moebius syndrome, Prader–Willi syndrome)
•\ Hyperprolactinemia
•\ Exogenous Testosterone (replacement therapy and anabolic steroids)
•\ Hypothalamic and pituitary disorders (i.e., secondary to radiation, medications) •\ Estrogen excess
•\ Adrenal tumor
Testicular etiologies are most common. These patients have spermatogenic abnormalities within the testes themselves. They are generally classi ed as primary testicular failure. Many of these are either congenital or acquired [1, 2]:
Данная книга находится в списке для перевода на русский язык сайта https://meduniver.com/
26 Azoospermia |
177 |
•\ Congenital
––Undescended testicle
––Noonan syndrome
––Kleinfelter syndrome
––XX male
––XYY male
•\ Acquired
––Trauma
––Varicocele
––Infection (i.e., orchitis)
––Gonadotoxin exposure, including chemotherapy
––Radiation
Post-testicular etiologies are relatively common and are often attributed to obstructive etiologies or ejaculatory dysfunction; some examples include [1, 2] the following:
•\ Obstruction
––Congenital bilateral absence of the vas deferens
––Vasal obstruction
––Epididymal obstruction
––Ejaculatory duct obstruction •\ Ejaculatory Dysfunction
––Retrograde ejaculation (i.e., secondary to medication or diabetes)
––Failure of emission (i.e., neurologic injury)
In general, all azoospermic men should undergo a thorough infertility and sexual history in addition to their general medical and surgical history. All patients must also receive a focused physical exam as well as appropriate testing including repeat semen analysis, hormonal pro les, and other investigations as needed.
Semen Analysis
According to the American Urologic Association (AUA) Guidelines it is recommended that azoospermia can only be diagnosed after observing no sperm on at least two centrifuged semen sample [3]. Centrifugation should be performed at maximal speed (1500–1800 g for 15 min at room temperature) with subsequent microscopic examination by a skilled technician [4]. The sample should be obtained by masturbation without any lubricant and with an abstinence period of 2–7 days. Sample collections should be at least 4 weeks apart. Please refer to Chap. 25 regarding WHO 2010 Semen Parameters [5].
178 |
N. Punjani and P. Schlegel |
History and Physical Examination
A pertinent history and physical examination will help make the correct diagnosis and ascertain other possible etiologies of infertility [1, 3]:
•\ Infertility History:
––Primary or secondary infertility
––Duration of infertility (standard de nition of >12 months)
––Partner history (i.e., age, gynecological history, work-up by reproductive endocrinologist, previous pregnancies with a different partner)
––History of childhood illness (i.e., orchitis)
––History of undescended testicle(s)
––History of inguinal or pelvic surgery
––History of genitourinary surgery (i.e., vasectomy)
––History of pelvic or genital trauma
––History of infections of the genitourinary tract (including sexually transmitted infections)
––Exposure to gonadotoxins (i.e., medications, environmental exposures, chemotherapy, radiation)
––Steroid or testosterone use
––Signs and symptoms of any genetic conditions
––Delayed puberty
––History of abnormal vision or visual changes
––Family history of fertility issues
•\ Sexual History:
––History of erectile dysfunction
––History of ejaculatory dysfunction
––Sexual drive/desire
––Coital frequency
––Use and type of lubricants
––Use of contraception •\ Physical Examination
––General appearance (congenital abnormalities, secondary sex characteristics)
––Body habitus and gynecomastia
––Abdominal and inguinal exam for scars
––Phallic examination (circumcision status, meatal opening)
––Presence or absence of the vas deferens (unilateral or bilateral)
––Testicular examination (size and consistency)
––Epididymal examination (dilated or fat)
––Cord examination (varicoceles or hernias)
––Digital rectal exam (midline prostatic cyst)
Данная книга находится в списке для перевода на русский язык сайта https://meduniver.com/
26 Azoospermia |
179 |
Absence of the vas deferens (unilateral or bilateral), dilated epididymis or clinical ndings suggestive of ejaculatory duct obstruction may indicate obstructive azoospermia. Individuals with the absence of the vas deferens may have or are carriers of the cystic brosis gene and should have appropriate testing as discussed in the next section. The majority of patients with obstructive azoospermia will generally have testicular length >4.6 cm [4]. Patients with primary or secondary testicular failure may have small and soft testicles (<4.6 cm) suggestive of non-obstructive azoospermia [4].
Laboratory Investigations
Initial hormonal evaluation according to the AUA Guidelines includes serum levels of testosterone and follicle-stimulating hormone (FSH) [3]. This provides further information to determine if a patient has obstructive or non-obstructive azoospermia (Table 26.1). Other hormones that may be ordered include luteinizing hormone (LH), thyroid stimulating hormone (TSH), estradiol levels, and prolactin as clinically indicated [2].
•\ Testosterone: serum measurement, preferably obtained in the morning due to the natural diurnal variation, provides an assessment of testicular function and/or failure (normal range 300–800 ng/dL).
•\ FSH: serum measurement may inform hyper- (primary testicular failure) or hypogonadotropic (secondary testicular failure) hypogonadism (normal range <7.6 mIU/mL).
Up to 96% of patients with obstructive azoospermia have an FSH <7.6 mIU/mL and over 90% of those with non-obstructive azoospermia will have an FSH >7.6 mIU/mL [4].
Additionally, in obstructive azoospermia or retrograde ejaculation speci c investigations include:
Table 26.1 Summary of various evaluation tools and etiologies of azoospermia
Parameter/testing |
Pre-testicular |
Testicular |
Post-testicular |
Testis volume/size |
|
/N |
N |
Semen volume |
/N |
N |
/N |
Semen pH |
N |
N |
/N |
Testosterone |
|
/N |
N |
FSH |
|
/N |
N |
LH |
|
/N |
N |
CFTR |
N |
N |
N/Abn |
Karyotype |
N/Abn |
N/Abn |
N |
|
|
|
|
Y-microdeletion |
N |
N/Abn |
N |
|
|
|
|