The diagnosis of hypospadias can be made using both prenatal fetal ultrasonography and MRI, but the diagnosis is generally made on examination of newborn infants . Some of the common presentations are as follows:
- Ventrally incomplete prepuce and urthral meatus in a proximally ectopic position
- The foreskin is incomplete and hypospadias is revealed following circumcision
- Opening of the urethra in other points apart from the tip of penis
- Partly covered appearance of the penis (due to the top half of the penis being covered by foreskin)
- Abnormal spraying at urination
Physical examination is enough to demonstrate hypospadias . In cases where there is severe hypospadias like the absence of testicles in the scrotum, sex determination evaluation may be performed.
Upper urinary tract anomalies are rarely associated with hypospadias and thus there is no need for routine imaging in patients unless other organ system disorders are present. Some associated findings common with hypospadias include enlarged prostatic utricle and low-grade vesicouretreal reflux. However, none of these are of clinical importance except where the other symptoms fully merit evaluation.
The main goals in treating hypospadias are as follows :
- To repair any existing curvature (orthoplasty).
- To create urethra with meatus at the tip of the penis.
- To re-form the glans into a more natural configuration (glansplasty).
- To develop a more cosmetically acceptable penile skin coverage.
- To create a more acceptable and normal appearing scrotum.
The resulting penis should be able to achieve the following:
- Be suitable for future sexual intercourse.
- Enable the patient urinate while standing.
- Have an acceptable cosmetic appearance.
The treatment is often a surgical procedure and the best time for surgery is between 3 and 18 months of age . Generally, surgery is less traumatic when it is done early enough.
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 The prognosis for boys who have undergone hypospadias repair is excellent. Very few children experience complications. In most cases, the penis appears normal and functions normally. [healthofchildren.com]
The combination of cytogenetic, FISH and SNP‑array CGH technologies was beneficial for diagnosing the karyotype accurately, predicting the prognosis, and preparing an effective treatment plan for the patient. [ncbi.nlm.nih.gov]
Prognosis Although an increased mortality rate in hypopituitary patients is well documented, the actual cause of the increased mortality is not clear. If relevant hormones are adequately replaced, prognosis in hypopituitarism is good. [patient.info]
With modern medicine, current prognosis of this condition is very promising. [diseaseszoom.com]
The main cause of this birth defect is not completely understood in majority of cases . However, treatment with progesterone during pregnancy may increase the risk of developing hypospadias. When there is hormonal fluctuation such as inability of the fetal testes to produce enough testosterone or the failure of the body to respond to produced testosterone this brings about an increase in the risk of hypospadias and other such genetic problems. Hypospadias may also be inherited.
The risk of infant males born to older women presenting hypospadias is high. The same is also the case with people who were conceived with in vitro fertilization (IVF). The connection to IVF may be due to the fact that such mothers are exposed to progesterone, a natural hormone or to progestin, which is a synthetic form of progesterone that is often administered during the IVF process.
In the United States, hypospadias is seen in 1 out of every 250 male births . The incidence in several countries is on the increase but figures are pegged at 0.26 per 1000 live births in Mexico and Scandinavia and 2.11 per 1000 live births in Hungary. The incidence of hypospadias is much higher in whites than in blacks and is seen mostly in people with Jewish or Italian heritage.
Even though the increase in incidence in many countries is believed to be as a result of increased reportage of minor grades of hypospadias, increases in severe hypospadias have equally been noted.
Pathophysiology In the 9 th week of gestation, androgenic stimulation initiates the fusion of the genital folds and growth of the genital tubercle. [pedclerk.bsd.uchicago.edu]
A South American study estimated the global prevalence at 11.3 of 10,000 newborns (less than 0.1%).  Pathophysiology The main pathophysiological event for the development of hypospadias is the anomalous or partial urethral closure in the first weeks [ncbi.nlm.nih.gov]
Introduction Metabolic bone disease characterized by a generalized impairment of bone mineralization Incidence estimated to be 1 in 100,000 Pathophysiology low levels of alkaline phosphate result in decreased synthesis of inorganic phosphate necessary [orthobullets.com]
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]
Hypophosphatasia — pathophysiology and treatment. Actual Osteol. 2012;8:164–182. Mornet E. Molecular genetics of hypophosphatasia and phenotype-genotype correlations. Subcell Biochem. 2015;76:25–43. [biodonsys.com]
This condition cannot be prevented.
Hypospadias is a birth defect which affects anterior urethral and penile formation.  The condition is characterized by an opening of the urethra located ectopically on the penile ventrum. The glans penis in this condition is often split open. In some cases, the urethral opening may be located as far as the scrotum or perineum.
The penis in this case is more likely to have a chordee characterized by ventral shortening and curvature as well as other proximal urethral defects .
This condition was described as far back as the second century AD following the work of Galen who was also the first to use this term. Amputation of the penis, distal to the meatus was the primary treatment for the disease in the first millennium. All of this has changed with better diagnostic and therapeutic procedures obtainable today.
Hypospadias is a condition where the opening of the penis is under the penis or any other location instead of the tip as seen in normal people. The opening of the tip leads to the urethra which is responsible for conveying urine and seminal fluid.
The condition is often seen in newly born males and it is common. It doesn’t affect the child in other ways medically and doesn’t stop them from growing up normal except in serious cases with complications. Parents who do not want their child to grow up with this condition agree to surgical correction of the condition which is successful in most cases allowing the child to have a penis that is normal and allows general sexual function.
- Baskin LS. Hypospadias and urethral development. J Urol. Mar 2000;163(3):951-6.
- Barcat J. Current concepts in of treatment. In: Horton CE, ed. Plastic and Reconstructive Surgery of the Genital Area. Boston, Mass: Little Brown; 1973:249-62.
- Duckett JW. Hypospadias. In: Walsh PC, Retik AB, Vaughan ED, et al, eds. Campbell's Urology. 7th ed. Philadelphia, Pa: WB Saunders Co; 1998:2093-2119.
- Kallen B, Bertollini R, Castilla E, et al. A joint international study on the epidemiology of hypospadias. Acta Paediatr Scand Suppl. 1986;324:1-52.
- Nemec SF, Kasprian G, Brugger PC, Bettelheim D, Nemec U, Krestan CR, et al. Abnormalities of the penis in utero - hypospadias on fetal MRI. J Perinat Med. Jul 2011;39(4):451-6.
- Holmes NM, Miller WL, Baskin LS. Lack of defects in androgen production in children with hypospadias. J Clin Endocrinol Metab 2004; 89:2811.
- Carlson WH, Kisely SR, MacLellan DL. Maternal and fetal risk factors associated with severity of hypospadias: a comparison of mild and severe cases. J Pediatr Urol 2009; 5:283.
- Kalfa N, Liu B, Klein O, et al. Genomic variants of ATF3 in patients with hypospadias. J Urol 2008; 180:2183.
- Kalfa N, Liu B, Klein O, et al. Mutations of CXorf6 are associated with a range of severities of hypospadias. Eur J Endocrinol 2008; 159:453.
- Liu B, Wang Z, Lin G, et al. Activating transcription factor 3 is up-regulated in patients with hypospadias. Pediatr Res 2005; 58:1280.