title: Impaired Sertoli cell function in males diagnosed with Noonan syndrome.
abstract: In order to study male gonadal function in Noonan syndrome, clinical and laboratory data, including inhibin B, were gathered in nine pubertal males diagnosed with Noonan syndrome. Bilateral testicular maldescent was observed in four, and unilateral cryptorchidism occurred in two. Puberty was delayed in three patients. Luteinising hormone (LH) levels were normal in all patients in our series, while follicle stimulating hormone (FSH) levels were raised in seven. Inhibin B was low in six males and just above the lower limit of normal in two. Importantly, all three men with normal testicular descent displayed signs of Sertoli cell dysfunction, indicating, in contrast to earlier reports, that bilateral cryptorchidism does not seem to be the main contributing factor to impairment of testicular function in Noonan syndrome. These findings suggest different mechanisms of disturbance in male gonadal function, which is frequently associated with Sertoli dysfunction.
authors.affiliation: Department of Paediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. k.marcus@cukz.umcn.nl
authors.forename: K A
authors.initials: KA
authors.lastname: Marcus
authors.forename: C G J
authors.initials: CG
authors.lastname: Sweep
authors.forename: I
authors.initials: I
authors.lastname: van der Burgt
authors.forename: C
authors.initials: C
authors.lastname: Noordam
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000378:metabolism; D003456:Cryptorchidism / Q000097:blood / Q000235:genetics / Q000473:pathology; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007265:Inhibins / Q000097:blood; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D012016:Reference Values; D012708:Sertoli Cells / Q000473:pathology*; D055815:Young Adult
chemical_list: D015415:Biomarkers; C422364:inhibin B; D007265:Inhibins; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11