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]
Entire Body System
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Pallister-Hall Syndrome
Sotos syndrome Unilateral retinoblastoma 2q37 microdeletion syndrome Familial amyloidosis, Finnish type Fuchs endothelial corneal dystrophy Generalized juvenile polyposis / juvenile polyposis coli Hereditary hemorrhagic telangiectasia Myhre syndrome Pallister-Hall [csbg.cnb.csic.es]
Musculoskeletal
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Myopathy
Complete androgen insensitivity syndrome Kennedy disease Partial androgen insensitivity syndrome X-linked centronuclear myopathy Autosomal dominant nonsyndromic intellectual deficit Familial pancreatic carcinoma 46,XY complete gonadal dysgenesis 46,XY [csbg.cnb.csic.es]
Neurologic
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Dystonia
17q11 microdeletion syndrome Acute promyelocytic leukemia Adrenocortical carcinoma Baraitser-Winter syndrome Developmental malformations - deafness - dystonia Floating-Harbor syndrome Hereditary nonpolyposis colon cancer Hydranencephaly Li-Fraumeni syndrome [csbg.cnb.csic.es]
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Spastic Paraplegia
paraplegia type 30 Hereditary sensory and autonomic neuropathy type 2 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation Capillary malformation - arteriovenous malformation Juvenile myelomonocytic leukemia Megalencephaly [csbg.cnb.csic.es]
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]
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]
However, its etiology remains largely unknown. Several authors have investigated the contribution of genetic and environmental factors to familial aggregation of hypospadias. [imedpub.com]
Epidemiology
DNK Source EPIDEMIOLOGY, Vol 21, N 1, 2010, pages 109-113, 29 réf. [bdsp-ehesp.inist.fr]
Schnack, Department of Epidemiology Research, Statens Serum Institute, Artillerivej 5, 2300 Copenhagen S, Denmark. E-mail: [email protected] [journals.lww.com]
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]
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]