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Familial Hypospadias


Presentation

  • MATERIALS AND METHODS: In a single center study 63 unselected cases of severe hypospadias were studied for all presently known causes of hypospadias using clinical as well as molecular biological techniques.[ncbi.nlm.nih.gov]
  • The phenotype was distinctive in that male wolffian duct structures (epididymis, vas deferens and seminal vesicles) were present whereas tissues derived from the urogenital sinus and from the anlage of the external genitalia were female in character.[jhu.pure.elsevier.com]
  • Improve your interpretation of presenting symptoms with 38 new topics and 40 new images in the Differential Diagnosis section, and optimize patient care with more than 250 new figures and tables.[books.google.de]
  • The phenotype was distinctive in that male wolffian-duct structures (epididymis, vas deferens and seminal vesicles) were present whereas tissues derived from the urogenital sinus and from the anlage of the external genitalia were female in character.[nejm.org]
  • As a result, only males are affected, or more severely affected than females, when one genetic change or mutation is present. Autosomal genetic conditions are not linked to the sex chromosomes.[thinkgenetic.com]
Anorexia
  • Seite 50 - Hambidge KM, Hambidge C, Jacobs M, Baum JD: Low levels of zinc in hair, anorexia, poor growth and hypogeusia in children. ‎[books.google.de]
Jaundice
  • Renal tubular disorders and renal stone disease 168 Clinical biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice[books.google.de]
Long Arm
  • Cytogenetic studies of peripheral blood lymphocytes and buccal smears revealed in all investigated patients normal karyotypes 46,XY with elongation of the long arm of chromosome Y (Yq ).[ncbi.nlm.nih.gov]
  • Cytogenetic studies of peripheral blood lymphocytes and buccal smears revealed in all investigated patients normal male karyotypes 46,XY with elongation of the long arm of chromosome Y (Yq ).[link.springer.com]
  • Chen et al [ 8 ] reported on the prenatal diagnosis of two sib female fetuses with a satellited short arm of chromosome 4 and a male fetus with a satellited long arm of chromosome X.[bmcpregnancychildbirth.biomedcentral.com]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]
Meningism
  • Ferri’s popular "5 books in 1" format provides quick guidance on short QT syndrome, microscopic polyangiitis, fungal meningitis, and much more. This medical reference makes the answers you need even easier to find - anytime, anywhere.[books.google.de]

Workup

Polyps
  • […] p. 261 Jayesh V Dhabalia, Girish G Nelivigi, Nilesh K Jain, Manav Suryavanshi, Shal Kakkattil DOI :10.4103/0970-1591.40627 PMID :19468409 [ABSTRACT] [HTML Full text] [PDF] [Citations (6) ] [PubMed] [Sword Plugin for Repository] Beta Fibroepithelial polyp[indianjurol.com]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • […] and assisted reproductive technology to become pregnant; however, some treatments (such as intracytoplasmic sperm injection or ICSI) are more strongly associated with hypospadias, while other treatments (such as in vitro fertilization or IVF), are not[thinkgenetic.com]
  • This diagnosis has implications for further patient treatment. In addition, familial hypospadias is rarely due to the androgen insensitivity syndrome.[ncbi.nlm.nih.gov]
  • 1 HUANG Ying1 ZHANG Xiaozhong1 GUO Feng1 LIU Qiang1 WEI Hui1 WU Shaowen1 MEI Hua1(1Shenzhen Urological Hospital, Sun Yat-sen University of Medical Sciences, Shenzhen, Guangdong, 518001, China); The diagnosis and treatment of Klinefelter's syndrome (Report[en.cnki.com.cn]

Prognosis

  • , Prevention, and Complications Prognosis ranges widely depending on location and severity of anatomic abnormality surgical outcomes range, but as surgical technique and microsurgery improves, future prognosis is expected to increase significantly Prevention[medbullets.com]
  • Prognosis With adequate surgical repair, most males with simple hypospadias can lead normal lives with a penis that appears and functions in a normal manner. This includes fathering children.[medical-dictionary.thefreedictionary.com]
  • Prognosis With modern anesthetics, instruments, sutures, dressing materials, and antibiotics, hypospadias repair has become quite successful. Long-term studies on the outcomes of hypospadias using current practices are limited.[emedicine.medscape.com]

Etiology

  • In the majority of cases the underlying etiology remains unknown, which hampers further management based on the specific requirements associated with a specific etiology.[ncbi.nlm.nih.gov]
  • The etiology of hypospadias remains unknown and the incidence is doubling in western countries with no definable explanation.[books.google.com]
  • .: The chromosomal etiology of congenital gonadal defects. Amer. J. Med., 30, 544 (1961). PubMed Google Scholar 8. Herbut, P. A.: Urethra. In: Urological Pathology, Kimpton, London 1952, p. 20. Google Scholar 9.[link.springer.com]
  • Etiology Hypospadias is due to defective development of the spongious body of the urether, which stays divergent. This spongious body develops under the genital folds between the 8th and 12th week of embryonic development.[rarediseases.info.nih.gov]

Epidemiology

  • Schnack, Department of Epidemiology Research, Statens Serum Institute, Artillerivej 5, 2300 Copenhagen S, Denmark. E-mail: tsh@ssi.dk.[journals.lww.com]
  • Epidemiology This congenital malformation is not rare, with an estimated prevalence of 1/1000 births but familial forms account for only 10% of cases.[rarediseases.info.nih.gov]
  • Abstract Epidemiological and genetic variables in hypospadias were analysed during the years 1978 to 1983 in a case control study of congenital malformations in the Emilia Romagna region of northern Italy.[doi.org]
  • Epidemiology 1997;8(5):537-544. Panamerican Health Organization Status of Malaria Programs in the Americas. Washington: PAHO, 1992. Secretaría de Medio Ambiente, Recursos Naturales y Pesca.[medigraphic.com]
Sex distribution
Age distribution

Pathophysiology

  • […] biochemistry of nutrition 180 Nutritional disorders and their management 200 Clinical biochemistry of the gastrointestinal tract 214 Assessment of hepatic function and investigation of jaundice 231 Acute and chronic liver disease 250 Glucose metabolism and the pathophysiology[books.google.de]
  • Google Scholar 21 : The pathophysiology of hyperchloremic metabolic acidosis after urinary diversion through intestinal segments. Surgery 1985 ; 98 : 561. Google Scholar 22 : Continent urinary diversion: variations on the Mitrofanoff principle. J.[doi.org]
  • Pathophysiology Hypospadias is a congenital defect that is thought to occur embryologically during urethral development, between 8 and 20 weeks' gestation.[docgo.net]

Prevention

  • Reefhuis J, Honein MA, Schieve LA, Correa A, Hobbs CA, Rasmussen SA, and the National Birth Defects Prevention Study. Assisted reproductive technology and major structural birth defects in the United States.[thinkgenetic.com]
  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.de]
  • Paulozzi National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341-3724 USA Address correspondence to L.J.[web.archive.org]
  • Luben, Hypospadias and maternal exposure to atrazine via drinking water in the National Birth Defects Prevention study, Environmental Health, 10.1186/s12940-016-0161-9, 15, 1, (2016).[doi.org]

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