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Penile Hypospadias
Urethral Meatus under Penis
Hypospadias is a developmental anomaly characterized by an abnormally placed urinary meatus.

Images

WIKIDATA, CC0 1.0
WIKIDATA, CC BY-SA 3.0
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Presentation

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 [7]. 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
  • Chordee 
  • Partly covered appearance of the penis (due to the top half of the penis being covered by foreskin)
  • Abnormal spraying at urination

Entire Body System

  • Fever

    Postoperative complication such as urinary retention, fever, severe pain, or urinary tract infection were not seen in children. Meatal stenosis was not seen on a 2-24 months' follow-up. [ncbi.nlm.nih.gov]

    When to Call the Doctor After surgery, call the doctor if your child has pain that cannot be controlled by medicine, or high fever, severe swelling or drainage from the incision. [cedars-sinai.org]

    The dose is increased for stresses such as illness, fever, and injury. If the medicine cannot be taken by mouth, it is given by injection. Thyroid hormone is given by mouth once a day. [cincinnatichildrens.org]

    Fever, vomiting, severe diarrhea, overuse of diuretics and strenuous exercise can all lead to dehydration, a potentially serious condition in which your body loses more water than you take in. [heart.org]

  • Asymptomatic

    The diagnosis was made by cystoscopy, and, as the patients remained asymptomatic, no treatment was eventually required for her urologic malformation. [ncbi.nlm.nih.gov]

    Presentation Presentation varies from asymptomatic to acute pituitary failure with acute collapse and coma, depending on the aetiology, rapidity of onset, and predominant hormones involved. [patient.info]

    Signs and Symptoms Hypospadia is usually asymptomatic. [urology-textbook.com]

  • Developmental Disorder

    Log out Cancel Abstract and Introduction Hypospadias is a common developmental disorder of the urogenital tract, occurring in approximately 1 in 125 live male births. [medscape.com]

    Skakkebaek NE, Rajpert-De Meyts E, Main KM (2001) Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum Reprod 16:972–978 45. [intramed.net]

Gastrointestinal

  • Vomiting

    If vomiting occurs, return to the clear liquid diet and progress slowly. [urology.ufl.edu]

    A 17-day-old Japanese boy was transferred to the hospital because of vomiting and impaired consciousness. His external genitalia was pigmented associated with small penis and penoscrotal hypospadias. [ncbi.nlm.nih.gov]

    Causes of this type of hypotension include: Loss of blood from bleeding Low body temperature High body temperature Heart muscle disease causing heart failure Sepsis, a severe blood infection Severe dehydration from vomiting, diarrhea, or fever A reaction [webmd.com]

    Tell him if you recently have had diarrhea, vomiting, or blood loss. Your healthcare provider will carefully examine you, listen to your heart, and may check your eyes. [drugs.com]

    Diet Nausea and vomiting are common after the surgery. Your child may have clear liquids when he wakes up. Start with clear juices or popsicles. When your son can keep these down, slowly work up to regular foods. [nationwidechildrens.org]

  • Nausea

    Anesthesia can cause nausea or vomiting in… Hypospadias Hypospadias is a birth defect of the male urethra that results in the urethral meatus (opening) being positioned in an abnormal location on the ventral (underside) aspect of the penis. [urology.ufl.edu]

    Neurally mediated hypotension: Unlike orthostatic hypotension, this disorder causes blood pressure to drop after standing for long periods, leading to symptoms such as dizziness, nausea and fainting. [heart.org]

    Diet Nausea and vomiting are common after the surgery. Your child may have clear liquids when he wakes up. Start with clear juices or popsicles. When your son can keep these down, slowly work up to regular foods. [nationwidechildrens.org]

    Symptoms can include one or more of the following: Stomach pain, decreased appetite, nausea and vomiting, and constipation Excessive thirst and urination Fatigue and/or weakness Anemia, meaning weakness from not having enough red blood cells Headache [hormone.org]

    You may have blurry vision, a headache, neck or back pain, nausea, or heart palpitations. Sitting down may relieve these symptoms. If blood pressure drops too low, the body’s vital organs do not get enough oxygen and nutrients. [nhlbi.nih.gov]

  • Failure to Thrive

    Children: delayed puberty, failure to thrive. Hypoglycaemia, hypotension, anaemia, lymphocytosis, eosinophilia, hyponatraemia. Thyroid-stimulating hormone (TSH) deficiency: See also the separate Hypothyroidism article. [patient.info]

    […] within weeks to months of birth (ii) Bony abnormalities: deformity of the thorax, fractures, and craniosynostosis (iii) Poor feeding and failure to thrive (iv) Delayed motor milestones (v) Proptosis and mild hypertelorism (vi) Pyridoxine-dependent seizures [hindawi.com]

    […] to thrive in infancy Faltering weight in infancy Weight faltering in infancy [ more ] 0001531 Feeding difficulties in infancy 0008872 Large fontanelles Wide fontanelles 0000239 Narrow chest Low chest circumference Narrow shoulders [ more ] 0000774 Short [rarediseases.info.nih.gov]

    Hadju-Cheney syndrome (OMIM 102500) is characterized by failure to thrive, dysmorphic facial features, early tooth loss, genitourinary anomalies, osteopenia, pathologic fractures, Wormian bones, failure of suture ossification, basilar impression, vertebral [ncbi.nlm.nih.gov]

  • Diarrhea

    Causes of this type of hypotension include: Loss of blood from bleeding Low body temperature High body temperature Heart muscle disease causing heart failure Sepsis, a severe blood infection Severe dehydration from vomiting, diarrhea, or fever A reaction [webmd.com]

    Tell him if you recently have had diarrhea, vomiting, or blood loss. Your healthcare provider will carefully examine you, listen to your heart, and may check your eyes. [drugs.com]

    Fever, vomiting, severe diarrhea, overuse of diuretics and strenuous exercise can all lead to dehydration, a potentially serious condition in which your body loses more water than you take in. [heart.org]

    If fluid loss from diarrhea or vomiting is causing a drop in blood pressure, IV fluids may be administered to bring blood pressure back up to normal. [onhealth.com]

    Drink plenty of water to avoid hypotension due to dehydration, especially if you are vomiting or have diarrhea. Staying hydrated can also help treat and prevent the symptoms of neurally mediated hypotension. [healthline.com]

  • Polydipsia

    Large lesions involving the hypothalamus: polydipsia and inappropriate secretion of antidiuretic hormone. [patient.info]

    Central diabetes insipidus (DI) will present with polyuria and polydipsia. Patients may present with dehydration and hypernatremia. [endocrinologyadvisor.com]

    Hypercalcemia also is present, explaining in part a history of irritability, poor feeding, anorexia, vomiting, hypotonia, polydipsia, polyuria, dehydratation, and constipation. Increased excretion of calcium may lead to renal damage. [ojrd.biomedcentral.com]

Skin

  • Flushing

    This medication may also cause flushing of the face and a dry mouth. Increased fluids should be encouraged. Older children may receive a mediation called Pyridium for one dose prior to surgery and 3 days post-operatively. [urologyforchildren.com]

    About 15% of people in the studies had allergic reactions, including emesis, fever, headache, flushing, irritability, chills, skin erythema, and rash. [managedcaremag.com]

    Ditropan may cause a dry mouth and flushing of the face. Encourage your child to drink lots of fluids. Nerve Block Most children will be given a nerve block during surgery to reduce pain. This block will wear off in four to six hours. [ucsfbenioffchildrens.org]

Neurologic

  • Confusion

    Contact your doctor immediately if signs or symptoms of hypopituitarism develop suddenly or are associated with a severe headache, visual disturbances, confusion or a drop in blood pressure. [mayoclinic.org]

    You may be at increased risk for depression, confusion, and memory problems. Hypotension may cause decreased blood flow to your brain and heart. This may lead to a stroke or heart attack and can be life-threatening. [drugs.com]

    Get your blood pressure checked if you keep getting symptoms like: lightheadedness or dizziness feeling sick blurred vision generally feeling weak confusion fainting This might mean your blood pressure is too low. [nhs.uk]

    Others feel light-headed, confused, tired, or weak. You may have blurry vision, a headache, neck or back pain, nausea, or heart palpitations. Sitting down may relieve these symptoms. [nhlbi.nih.gov]

    […] consider hypotension serious unless it produces noticeable symptoms such as: Nausea Fainting Dehydration Blurred vision Cold, clammy, pale skin Fatigue Depression If you have cold, clammy or pale skin, rapid or shallow breathing, weak or rapid pulse or confusion [mercy.com]

  • Agitation

    Techniques that minimize nausea, vomiting, and postsurgical agitation (such as propofol-based TIVA) are advisable in this for these cases. [clinicalpainadvisor.com]

    Diapers alone agitate a surgical site and I've heard from many parents with toddlers in agony for weeks (one recently said for MONTHS) because of circumcision and/or hypospadias surgery. [drmomma.org]

Urogenital

  • Chordee

    Chordee Without Hypospadias Chordee can be present without hypospadias. It is often found when parents bring their children to the doctor due to a bend in the penis. Often, chordee alone is caused by skin tethering. [beaumont.org]

    The author did not have to use dorsal placation for chordee correction. [ijps.org]

    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. [symptoma.com]

    In addition, the foreskin—the loose skin that surrounds the head of the penis that is removed during circumcision—is incompletely formed and there may be a bend in the penis called a chordee. [columbiaurology.org]

    Some cases may involve chordee, a condition in which the penis bends down or away from the body during erection. Demographics Hypospadias is the most common anomaly of the penis affecting approximately one in 250 males born. [healthofchildren.com]

  • Cryptorchidism

    The hotspots identified for hypospadias and cryptorchidism are associated with intense agricultural activity. [ncbi.nlm.nih.gov]

    Associations Associated anomalies are common and include: congenital vesico-ureteral reflux cryptorchidism inguinal herniation Syndromic associations include: Aarskog syndrome genito-palato-cardiac syndrome Roberts syndrome Smith-Lemli-Opitz syndrome [radiopaedia.org]

    Cryptorchidism (undescended testicles) and inguinal hernia are the most commonly associated anomalies. [fertilitypedia.org]

  • Sexual Dysfunction

    The two major functional reasons to perform surgery are to correct an abnormal deflection of the urinary stream and potential sexual dysfunction later in life. [luriechildrens.org]

    The penis may curve as your baby grows causing sexual dysfunction later in life. If the urethral opening is closer to the scrotum or perineum, your baby may have problems with fertility later in life. [childrensnational.org]

    This can cause sexual dysfunction later in life. Infertility. If the urethral opening is closer to the scrotum or perineum, your child may have problems with fertility later in life. [stlouischildrens.org]

  • Urinary Retention

    The diagnosis of stricture after hypospadias repair is suspected based on symptoms of stranguria, urinary retention, and/or urinary tract infection. It is confirmed by urethroscopy during anticipated repair, without preoperative urethrography. [ncbi.nlm.nih.gov]

    On the other hand, stents prevented temporary urinary retention which occurred in 2 patients in the non-stented group. [karger.com]

    Issues There is a small incidence of significant urinary retention with a caudal block; parents should be given a resource to call if there is no urination in 6-8 hours after the operation. [clinicalpainadvisor.com]

Workup

Physical examination is enough to demonstrate hypospadias [8]. 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.

Treatment

The main goals in treating hypospadias are as follows [9]:

  • 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 [10]. Generally, surgery is less traumatic when it is done early enough.

Prognosis

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]

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]

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]

Etiology

The main cause of this birth defect is not completely understood in majority of cases [3]. 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.

Epidemiology

In the United States, hypospadias is seen in 1 out of every 250 male births [4]. 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

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%). [6][7] 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]

Prevention

This condition cannot be prevented.

Summary

Hypospadias is a birth defect which affects anterior urethral and penile formation. [1] 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 [2].

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.

Patient Information

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.

References

  1. Baskin LS. Hypospadias and urethral development. J Urol. Mar 2000;163(3):951-6. 
  2. 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.
  3. 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.
  4. 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.
  5. 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. 
  6. Holmes NM, Miller WL, Baskin LS. Lack of defects in androgen production in children with hypospadias. J Clin Endocrinol Metab 2004; 89:2811.
  7. 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.
  8. Kalfa N, Liu B, Klein O, et al. Genomic variants of ATF3 in patients with hypospadias. J Urol 2008; 180:2183.
  9. 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.
  10. Liu B, Wang Z, Lin G, et al. Activating transcription factor 3 is up-regulated in patients with hypospadias. Pediatr Res 2005; 58:1280.
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