title: Bilateral carcinoma in situ of the testis and cystic fibrosis transmembrane conductance regulator (CFTR) mutation in an azoospermic patient with late-onset 21beta-hydroxylase deficiency.
abstract: Testicular cancer can impair spermatogenesis. In addition, chemotherapy or radiotherapy used for its treatment further damage testicular function mainly affecting highly proliferating germ cells. The multifaceted etiology of male infertility includes, among others, alterations of male reproductive tract differentiation such as monolateral or bilateral congenital absence of vas deferens and perturbations in adrenal steroid synthesis on a genetic basis such as 21beta-hydroxylase deficiency. Herein, we report the case of a male patient with primary infertility, probably related to a combination of genetic and acquired factors with different expressions over time.
authors.affiliation: DiSEM, Cattedra di Endocrinologia, University of Genoa, Italy. luca.foppiani@hsanmartino.liguria.it
authors.forename: L
authors.initials: L
authors.lastname: Foppiani
authors.forename: M
authors.initials: M
authors.lastname: Baffico
authors.forename: G
authors.initials: G
authors.lastname: Lando
authors.forename: C
authors.initials: C
authors.lastname: Cappi
authors.forename: P
authors.initials: P
authors.lastname: De Cassan
authors.forename: M C
authors.initials: MC
authors.lastname: Patrosso
authors.forename: A
authors.initials: A
authors.lastname: Vitali
authors.forename: S
authors.initials: S
authors.lastname: Penco
authors.forename: M
authors.initials: M
authors.lastname: Giusti
authors.forename: F
authors.initials: F
authors.lastname: Minuto
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis*; D000328:Adult; D002278:Carcinoma in Situ / Q000150:complications / Q000175:diagnosis* / Q000532:radiotherapy; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D019314:Dehydroepiandrosterone Sulfate / Q000097:blood; D003907:Dexamethasone; D005640:Follicle Stimulating Hormone / Q000097:blood; D005938:Glucocorticoids; D006801:Humans; D008297:Male; D009154:Mutation; D009765:Obesity / Q000150:complications; D009845:Oligospermia / Q000150:complications*; D013255:Steroid 21-Hydroxylase / Q000235:genetics; D013736:Testicular Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000532:radiotherapy; D013739:Testosterone / Q000097:blood; D014649:Vas Deferens / Q000473:pathology
chemical_list: C505032:CFTR protein, human; D005938:Glucocorticoids; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D013739:Testosterone; D019314:Dehydroepiandrosterone Sulfate; D019326:17-alpha-Hydroxyprogesterone; D003907:Dexamethasone; D005640:Follicle Stimulating Hormone; D013255:Steroid 21-Hydroxylase