A Full Bladder Is Not Needed for the Male Stress Incontinence Grading Scale.

INTRODUCTION: Our objectives were to evaluate the Male Stress Incontinence Grading Scale to stratify male patients with stress urinary incontinence for either artificial urinary sphincter or sling using a standing cough test and determine if an emptier bladder at the time of assessment carries increased risk of treatment failure. METHODS: Retrospective chart review of male patients undergoing sling and artificial urinary sphincter placement. The standing cough test score and bladder scan results were documented at initial evaluation. RESULTS: Forty patients underwent sling and 43 underwent naïve artificial sphincter placement. Median follow-up was 7.11 months. Thirty-six/forty slings had complete incontinence resolution or reduction to a safety pad vs 40/43 after sphincter (90% vs 93%, P = .62). Four sling patients (10%) had persistence or recurrence of incontinence. Cough test scores were similar between sling failure (67% grade 0, 33% grade 1) and success groups (83% grade 0, 3% grade 1, 14% grade 2). Bladder scan mean was 18.5 cc in the sling failure (SD 21.1) and 38.0 cc in the success groups (38.3), with 32% of success patients having bladder scans of 0 cc, and 63% of < 50 cc. Mean for sphincter patients was 45 cc (56.9). Ten patients with scan = 0 and 7 patients with scans < 30 cc demonstrated grade 4 incontinence. CONCLUSIONS: Cough test is a noninvasive, reliable tool to assess stress urinary incontinence severity. Our data suggest it is reliable even when bladders are nearly empty and can effectively stratify patients for sling vs artificial urinary sphincter with a high rate of success.

A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing.

Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing. Potentially pathogenic variants were filtered and prioritized followed by validation by Sanger sequencing in the two brothers and their mother. A pathogenic variant was identified in the ANOS1 gene on the X chromosome: c.1267C>T; both brothers were hemizygous, and their mother was heterozygous for the variant. The variant is a single nucleotide change that introduces a stop codon in exon 9 (p.R423*), likely producing a truncated variant of the protein. This variant has only been reported twice in the literature, in the setting of finding genetic causes for other conditions. This result supports the clinical value of whole exome sequencing for identification of genetic pathogenic variants. Genetic diagnosis is the essential first step for genetic counseling, preimplantation diagnosis, and research for a potential treatment.