Specific forms of intratubular germ cell neoplasia

Definition Complete filling of seminiferous tubules by neoplastic germ cells, including seminoma and other non-seminomas Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Germ cell neoplasia in situ

Definition Gonocyte-like germ cells with abundant clear cytoplasm and large nuclei with coarse chromatin and expressing embryonic germ cell markers, located in the basilar aspect of the seminiferous tubules; considered to be the precursor of the majority of malignant testicular germ cell tumors. Also called testicular intratubular germ cell neoplasia, unclassified (ITGCNU), in the previous World Health Organization (WHO) classification. Clinical features Epidemiology Germ cell neoplasia…

Gonadal dysgenesis

Definition Disorder of sex development; congenital developmental defect of one or both gonads and reproductive organs due to either structural or numerical anomalies of the sex chromosomes or mutations in the genes involved in the gonadal development Originally referred to as Turner syndrome, but it is now applied to other conditions (a spectrum of disorders with ambiguous genitalia, persistent Müllerian duct structures, Wolffian duct derivatives and…

Embryonic testicular regression (Vanishing testis syndrome)

Definition A developmental anomaly in which one or both testicles vanish during embryogenesis in patients with XY karyotype Clinical features Epidemiology Usually sporadic with rare familial instances with recessive trait Unclear etiology, possibly regression of the testes in utero due to a genetic mutation, a teratogen, intrinsic gonadal disorders, infection, trauma, late antenatal or perinatal vascular thrombosis, torsion, or prenatal hormone induced atrophy resulting from overproduction…

Testicular tumor of the adrenogenital syndrome

Definition Rare clinical entity found in young men with endocrine disorders. Testicular tumor of the adrenogenital syndrome (TTAGS) has also been referred to as testicular adrenal rest tumors (TARTs). TTAGS is most likely hyperplasia and not a true neoplasm. Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in…

Klinefelter syndrome

Definition Klinefelter syndrome (or 47,XXY or XXY syndrome) is a condition in which males have an extra X chromosome. Clinical features Epidemiology Klinefelter syndrome is the most common sex chromosome disorder in males and the second most common condition caused by the presence of extra chromosomes. Incidence is 1/1000 males. One in every 500 males has an extra X chromosome but does not have the syndrome.…

Androgen insensitivity syndrome

Definition Resistance of target organs to androgen stimulation (owing to androgen receptor gene mutation on the X chromosome) leading to several syndromes with phenotypes varying from testicular feminization (severe form) to normal males with infertility (mild form) Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Nonspecific granulomatous orchitis

Definition Nonspecific granulomatous orchitis is a rare and unusual disease with mixed chronic and granulomatous inflammation of an unknown etiology. Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Granulomatous orchiepididymitis

Definition Granulomatous inflammation of testis and epididymis caused mainly by Mycobacterium tuberculosis Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Viral orchitis

Definition Viral infection of the testis, most frequently due to mumps virus and Coxsackie B virus. The other viruses that can infect the testis and cause acute orchitis are influenza, infectious mononucleosis, coronavirus, varicella, and others. Clinical features Epidemiology In populations without mandatory mumps vaccination, orchitis complicates up to a third of adult patients with mumps. You’re Reading a Preview Become a Clinical Tree membership for…

Postpubertal gonadotrophin deficiency

Definition Postpubertal children or adults who have undergone normal pubertal development show testicular regression due to deficiency of gonadotropins, including luteinizing hormone (LH) and follicle stimulating hormone (FSH). Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Pre-pubertal gonadotropin deficiency

Definition Aspermatogenesis in adolescent or adult males who have never had normal secretion of gonadotropin hormones Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Excurrent duct obstruction

Definition Congenital or acquired obstruction of the epididymis, vas deferens, or both, leading to azoospermia or low sperm count Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Germ cell aplasia, sertoli cell-only syndrome

Definition Azoospermia with seminiferous tubules showing complete absence of germ cells and lined by Sertoli cells only Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Hypospermatogenesis

Definition Reduced production of spermatozoa without a specific point of interruption Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Maturation arrest

Definition Cessation of germ cell development beyond a specific stage in spermatogenesis. The arrest is most frequently observed at primary spermatocyte, rarely spermatogonial, secondary spermatocyte, or spermatid level. Clinical features Epidemiology Can be idiopathic May have genetic etiologies including trisomy (XYY), balanced autosomal anomalies (translocations, inversions) or deletions in the Y chromosome (Yq11) Can be secondary to: post-pubertal gonadotrophin deficiency varicocele cryptorchidism exogeneous glucocorticoids diabetes mellitus…

Male infertility workup

Definition Decreased production or delivery of spermatozoa or production of abnormal spermatozoa Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Vasculitis

Definition Testicular necrotizing vasculitis (inflammatory destruction of vessels with accumulation of fibrinoid material) that can be seen in various systemic disorders or as an isolated form Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here

Testicular microlithiasis

Definition Presence of more than five foci of calcification per ultrasound field view randomly distributed in the testicular parenchyma May be due to deregulated phagocytic activity of Sertoli cells (undestroyed apoptotic testicular germinal epithelium in the seminiferous tubules, undergoing calcification) Composed of pure calcium hydroxyapatite Both genetic and environmental factors suspected in pathogenesis Clinical features Epidemiology 1.5%–5.6% overall prevalence in North America and Europe; up to…

Spermatic cord torsion and testicular infarction

Definition Torsion is the complete or incomplete twisting of the spermatic cord with or without associated ischemic necrosis of the testis. Torsion may occur within the tunica vaginalis (intravaginal torsion) or outside to it (extravaginal torsion). Clinical features You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If you are a member. Log in here