Hypospadias

Hypospadias occurs in approximately 0.2 to 4.1 1000 live births.1Epelboym Y. Estrada C. Estroff J. Ultrasound diagnosis of fetal hypospadias: accuracy and outcomes.J Pediatr Urol. 2017; 13: 484.e1-484.e4Abstract Full Text PDF Scopus (11) Google Scholar,2Li X. Liu A. Zhang Z. An Wang S. Prenatal hypospadias with 2-dimensional 3-dimensional ultrasonography.Sci Rep. 2019; 9: 8662Crossref PubMed (6) Scholar This anomaly the male genitourinary system when embryologic urethral folds fail fuse completely between 7th 14th weeks gestation.1Epelboym Scholar,3Norton M.E. Callen’s ultrasonography obstetrics gynecology.6th edition. Elsevier, Amsterdam, Netherlands2016Google Scholar,4Bamberg Brauer M. Degenhardt P. Szekessy D.P. Henrich W. two- three-dimensional imaging two cases severe penoscrotal hypospadias.J Clin Ultrasound. 2011; 39: 539-543Crossref (7) Therefore, position meatus becomes abnormally located along length ventral shaft penis, scrotum, or perineum. Chordee (curvature penis shortening) is often present as well.1Epelboym Scholar, 2Li 3Norton diagnosed meatal perineum.1Epelboym Scholar,5Odeh Ophir E. Bornstein mimicking female genitalia on early second trimester sonographic examination.J 2008; 36: 581-583Crossref (13) It has been classified proximal (urethral perineum midshaft), distal (between midshaft glans penis), glandular (within penis).1Epelboym Alternatively, also described anterior coronal), middle (penile shaft), posterior (penoscrotal, scrotal, perineal). Approximately 50% are anterior, 30% middle, 20% posterior.4Bamberg can be ultrasound a “blunt tip” appearance ultrasound, which indicates abnormal tapering phallus (Figure 1). Ventral shortening curvature represents chordee. A “buried” described, significantly foreshortened. The “tulip sign” describes hypospadias, there transposition, curved bifid scrotum. Finally, deflection urinary stream fan shape described; power color Doppler may used illustrate an origin stream.1Epelboym Scholar,6Meizner I. Mashiach R. Shalev Efrat Feldberg D. sign”: clue for in-utero hypospadias.Ultrasound Obstet Gynecol. 2002; 19: 250-253Crossref (26) Normal amniotic fluid volume reported most polyhydramnios rarely seen.1Epelboym positive predictive value prenatal detection 72%.1Epelboym However, mild, many not detected at all before birth. Some data have suggested that give more precise depiction urogenital structures higher diagnostic yield 2).3Norton ScholarFigure 2A image demonstrating hypospadiasShow full captionThe tulip formed by ventrally oriented scrotal folds.Society Maternal-Fetal Medicine. SMFM Fetal Anomalies Consult Series #4. Am J Gynecol 2021.View Large Image Figure ViewerDownload Hi-res Download (PPT) folds. Society 2021. Although isolated finding, it associated additional anomalies 7% 40% cases.1Epelboym variety genetic, endocrine, environmental etiologies proposed increase risk hypospadias. two-hit hypothesis suggested, insult combines underlying genetic predisposition.4Bamberg When present, affect system.3Norton 4Bamberg 5Odeh Bifid scrotum 33% cases, cryptorchidism 17%.1Epelboym Inguinal hernia, vesicoureteral reflux, ureteropelvic junction obstruction seen.2Li Less common concurrent include unilateral renal agenesis, bladder exstrophy, perineal lipoma.1Epelboym Moreover, part syndrome, nongenitourinary occur 10% cases.3Norton craniofacial well cardiac, pulmonary, gastrointestinal, central nervous systems association hypospadias.1Epelboym Scholar,7Online Mendelian Inheritance Man (OMIM)MIM Number: 300633 Hypospadia 1, X-linked; HYSP1. Johns Hopkins University, Baltimore, MD2019Google Additionally, increased growth restriction hypospadias.8Gatti J.M. Kirsch A.J. Troyer W.A. Perez-Brayfield M.R. Smith E.A. Scherz H.C. Increased incidence small-for-gestational age infants neonatal intensive-care unit.BJU Int. 2001; 87: 548-550Crossref (79) Scholar,9Hussain N. Chaghtai Herndon C.D. Herson V.C. Rosenkrantz T.S. McKenna P.H. gestation infants.Pediatrics. 109: 473-478Crossref (121) differential seen includes micropenis, epispadias, cloacal anomalies.10Devesa Muñoz Torrents Comas Carrera hypospadias.Prenat Diagn. 1998; 18: 779-788Crossref (21) In addition, important distinguish genitalia, such clitoromegaly. One method differentiate measure angle genital tubercle from horizontal line through lumbosacral skin surface midsagittal plane; if this >30°, sex likely male.5Odeh Testicular descent “dome indicate sex, parallel lines labial visualization uterus sex.3Norton finding cases. Familial inheritance documented autosomal dominant X-linked manner some Recurrence high 14% sibling affected child, 4% boys father.7Online syndromes, Smith-Lemli-Opitz, Wolf-Hirschhorn, multiple lentigines, Opitz G/BBB, Schilbach-Rott, hand-foot-genital, Elsahy-Waters, Pallister-Hall, Bardet-Biedl, Mowat-Wilson, trisomies 13 18, triploidy, others.7Online Scholar,10Devesa Microdeletion 19q13.11 9p24.3, androgen insensitivity, adrenal hyperplasia, other endocrine abnormalities conjunction syndrome.7Online Diagnostic testing (amniocentesis) should offered detected, including specifically chromosomal microarray analysis (CMA). If anomalies, consanguinity, family history specific condition, gene panel exome sequencing sometimes useful because CMA does detect single-gene (Mendelian) disorders. pursued, appropriate pretest posttest counseling provider experienced complexities genomic recommended. After counseling, cell-free DNA screening option patients who decline evaluation helpful determining biologic ambiguous genitalia. Expectant families advised but syndromes possible. Insufficient evidence exists regarding any potential benefit antenatal testing, although typically recommended Timing mode delivery based usual obstetrical indications. frequent complications stenosis difficulty controlling stream.10Devesa treated surgery. Prognosis very favorable among outcomes variable setting syndrome. results location Characteristic findings, tip,” chordee, sign,” lead diagnosis. large number transmitted families. organ well. amniocentesis standard principles guide timing delivery.