History

Fact Explanation
Absence of testis Undescended testis is a form of Cryptorchidism. The testes develop in the retroperitoneum. At 4 to 6 weeks of gestation, the genital ridges organize and the migration begins from there. The testes reach the inguinal region by approximately 12th week. By 28th weeks, they migrate through the inguinal canal. They emerge from superficial inguinal ring at 32nd week and descend into the scrotum at 35-40th week. About 96% of testes have descended at birth. This descent occurs as a result of a complex interaction of hormonal and mechanical factors Hormonal factors. Dysfunction of any of these factors can cause undescended testes. Most patients presents with absence of one or both testes swelling in the groin. This is mostly recognized at birth during the initial examination or the parents may complain of the absence in the early infancy or around school age. A few present after puberty. [1,2,3,4,5]
Retracting testis Retractile testis is another cause of the absence of the testis in the scrotum. Parents/ patient may complain of a recent disappearance of the previously normally located testes. This is thought to be due to several causes such as reduced androgens between 1 – 9 years, hyperactive cremasteric reflex. The retraction is often induced by cold, fear, pain or the stimulation of cutaneous branch of genitofemoral nerve. However, clinical distinction between retractile and undescended testis may be difficult. [1,3,4,6,]
Groin pain Some patients may present with attacks of pain in the groin due either to recurrent torsion of the testis or strangulation of an hernia. [1,6,7,8]
Family history Familial predisposition has also been identified. History of undescended testis in father or brothers may be present. [2,3,6]
Risk factors Premature infants, low-birth-weight male newborns, infants with Intrauterine growth restriction, twin gestation are at higher risk. Birth weight alone is the principal determinant of cryptorchidism at birth and at 1 year of life. [5,6,8,9]
Associations Inguinal hernia and/or patent processus vaginalis, hypospadias, cerebral palsy, mental retardation, Down syndrome, Wilms tumor, Prune belly syndrome, and Prader-Willi syndrome are some associated other congenital disorders. [5,8,9,10]
Complications Infertility, development of co-existing hernia, specially indirect inguinal hernia, trauma, torsion, testicular atrophy due to pressure effects and histological changes are common complications of undescended testis. 10% of testicular cancer originate in undescended or maldescended testis. Psychologic effects of an empty scrotum and testicular-Epididymal fusion abnormality are not uncommon. [1,3,6,10]
References
  1. PENSON D, KRISHNASWAMI S, JULES A, MCPHEETERS ML. Effectiveness of hormonal and surgical therapies for cryptorchidism: a systematic review. Pediatrics [online] 2013 Jun, 131(6):e1897-907 [viewed 25 August 2014] Available from: doi:10.1542/peds.2013-0072
  2. COBELLIS G, NOVIELLO C, NINO F, ROMANO M, MARISCOLI F, MARTINO A, PARMEGGIANI P, PAPPARELLA A. Spermatogenesis and cryptorchidism. Front Endocrinol (Lausanne) [online] 2014:63 [viewed 25 August 2014] Available from: doi:10.3389/fendo.2014.00063
  3. MARCHETTI F, BUA J, TORNESE G, PIRAS G, TOFFOL G, RONFANI L, ITALIAN STUDY GROUP ON UNDESCENDED TESTES. Management of cryptorchidism: a survey of clinical practice in Italy. BMC Pediatr [online] 2012 Jan 10:4 [viewed 25 August 2014] Available from: doi:10.1186/1471-2431-12-4
  4. KLAUBER GT. Management of the undescended testis. Can Med Assoc J [online] 1973 May 5, 108(9):1129-31 [viewed 25 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/4145116
  5. TASIAN GE, COPP HL, BASKIN LS. Diagnostic imaging in cryptorchidism: utility, indications, and effectiveness. J Pediatr Surg [online] 2011 Dec, 46(12):2406-13 [viewed 25 August 2014] Available from: doi:10.1016/j.jpedsurg.2011.08.008
  6. MATHERS MJ, SPERLING H, RüBBEN H, ROTH S. The undescended testis: diagnosis, treatment and long-term consequences. Dtsch Arztebl Int [online] 2009 Aug, 106(33):527-32 [viewed 25 August 2014] Available from: doi:10.3238/arztebl.2009.0527
  7. FERGUSON L, AGOULNIK AI. Testicular cancer and cryptorchidism. Front Endocrinol (Lausanne) [online] 2013:32 [viewed 25 August 2014] Available from: doi:10.3389/fendo.2013.00032
  8. HUGHES IA, ACERINI CL. Factors controlling testis descent. Eur J Endocrinol [online] 2008 Dec:S75-82 [viewed 25 August 2014] Available from: doi:10.1530/EJE-08-0458
  9. BAKR AA, KOTB M. Laparoscopic orchidopexy: the treatment of choice for the impalpable undescended testis. JSLS [online] 1998 Jul-Sep, 2(3):259-62 [viewed 25 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/9876750
  10. BRUNET J, DE MOWBRAY RR, BISHOP PM. Management of the undescended testis. Br Med J [online] 1958 Jun 14, 1(5084):1367-71 [viewed 25 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/13536506

Examination

Fact Explanation
Under developed scrotal skin Under developed scrotal skin can be inspected by the little or no rugae, triangular appearance of the affected side of the scrotum. This is usually unilateral and rarely bilateral. [1,2,3,4]
Absence of testes in the scrotum During the palpation one or both testes are absent in the scrotum. [2,3,5]
Hypertrophied contralateral testes This is a common feature in cases of unilateral disease mostly due to the compensatory effect. [5,6,7]
Ectopic testes As the milking down is performed, palpating from iliac crest to scrotum, the undescended testis can be palpated in an ectopic site such as superficial inguinal pouch or transverse scrotal, prepenile, femoral, perineal, or contralateral hemiscrotum. After the milking down, the ectopic testicle will immediately spring out of the scrotum when it is released. [1,3,5,6,8]
Retractile testis After it’s milking down to the scrotum, the retractile testicle will remain momentarily in the scrotum until further stimulation causes a cremasteric reflex which retracts it to the previous site. [2,3,5]
Inguinal hernia Inguinal hernia, specially indirect variant is associated in most of the cases of undescended testes. A bulge in the groin or scrotum can be seen which may appear gradually over a period of several weeks or months. [2,3,6]
References
  1. COBELLIS G, NOVIELLO C, NINO F, ROMANO M, MARISCOLI F, MARTINO A, PARMEGGIANI P, PAPPARELLA A. Spermatogenesis and cryptorchidism. Front Endocrinol (Lausanne) [online] 2014:63 [viewed 25 August 2014] Available from: doi:10.3389/fendo.2014.00063
  2. KLAUBER GT. Management of the undescended testis. Can Med Assoc J [online] 1973 May 5, 108(9):1129-31 [viewed 25 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/4145116
  3. BAKR AA, KOTB M. Laparoscopic orchidopexy: the treatment of choice for the impalpable undescended testis. JSLS [online] 1998 Jul-Sep, 2(3):259-62 [viewed 25 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/9876750
  4. HUGHES IA, ACERINI CL. Factors controlling testis descent. Eur J Endocrinol [online] 2008 Dec:S75-82 [viewed 25 August 2014] Available from: doi:10.1530/EJE-08-0458
  5. MATHERS MJ, SPERLING H, RüBBEN H, ROTH S. The undescended testis: diagnosis, treatment and long-term consequences. Dtsch Arztebl Int [online] 2009 Aug, 106(33):527-32 [viewed 25 August 2014] Available from: doi:10.3238/arztebl.2009.0527
  6. FERGUSON L, AGOULNIK AI. Testicular cancer and cryptorchidism. Front Endocrinol (Lausanne) [online] 2013:32 [viewed 25 August 2014] Available from: doi:10.3389/fendo.2013.00032
  7. TASIAN GE, COPP HL, BASKIN LS. Diagnostic imaging in cryptorchidism: utility, indications, and effectiveness. J Pediatr Surg [online] 2011 Dec, 46(12):2406-13 [viewed 25 August 2014] Available from: doi:10.1016/j.jpedsurg.2011.08.008
  8. MARCHETTI F, BUA J, TORNESE G, PIRAS G, TOFFOL G, RONFANI L, ITALIAN STUDY GROUP ON UNDESCENDED TESTES. Management of cryptorchidism: a survey of clinical practice in Italy. BMC Pediatr [online] 2012 Jan 10:4 [viewed 25 August 2014] Available from: doi:10.1186/1471-2431-12-4

Differential Diagnoses

Fact Explanation
Retractile testis A retractile testicle is a testicle that may move back and forth between the scrotum and the groin. Retractile testes are thought to represent a normal variant of descended testes in prepubertal boys. Though the testis has fully descended, it can be lifted up out of the scrotum by the contraction of the cremaster muscle (cremasteric reflex). [1,2,3]
Ectopic testis A ectopic testis is a testicle that, although not an undescended testicle, has taken a non-standard path through the body and ended up in an unusual location. [2,4]
Testicular agenesis Failure of testicular development can occur all along the developmental time line. Early failure results in absence of the testis and the Wolfian structures on that same side. Testosterone must be produced locally to induce development of the vas, epididymis and seminal vesicle on each side. Later failure may result in absence of the testis with presence of a vas. When the testis fails to develop, of course, it cannot be palpated on examination. However, the converse is not true. [1,3]
Congenital adrenal hyperplasia Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands. Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. [1,4,5]
References
  1. ENSON D, KRISHNASWAMI S, JULES A, MCPHEETERS ML. Effectiveness of hormonal and surgical therapies for cryptorchidism: a systematic review. Pediatrics [online] 2013 Jun, 131(6):e1897-907 [viewed 25 August 2014] Available from: doi:10.1542/peds.2013-0072
  2. KLAUBER GT. Management of the undescended testis. Can Med Assoc J [online] 1973 May 5, 108(9):1129-31 [viewed 25 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/4145116
  3. MATHERS MJ, SPERLING H, RüBBEN H, ROTH S. The undescended testis: diagnosis, treatment and long-term consequences. Dtsch Arztebl Int [online] 2009 Aug, 106(33):527-32 [viewed 25 August 2014] Available from: doi:10.3238/arztebl.2009.0527
  4. COBELLIS G, NOVIELLO C, NINO F, ROMANO M, MARISCOLI F, MARTINO A, PARMEGGIANI P, PAPPARELLA A. Spermatogenesis and cryptorchidism. Front Endocrinol (Lausanne) [online] 2014:63 [viewed 25 August 2014] Available from: doi:10.3389/fendo.2014.00063
  5. AUCHUS RJ, ARLT W. Approach to the patient: the adult with congenital adrenal hyperplasia. J Clin Endocrinol Metab [online] 2013 Jul, 98(7):2645-55 [viewed 25 August 2014] Available from: doi:10.1210/jc.2013-1440

Investigations - for Diagnosis

Fact Explanation
17-hydroxylase progesterone A phenotypically male newborn with bilateral nonpalpable testicles should be considered to be a genetic female with congenital adrenal hyperplasia (CAH) until proved otherwise. High serum concentration of 17-hydroxyprogesterone (usually >1000 ng/dL) is suggestive of CAH. [1,2,3]
Serum electrolytes Low serum aldosterone is seen with salt-wasting forms of adrenal hyperplasia which gives rise to hyponatremia and hyperkalemia. [1,2,4]
Serum FSH and LH Serum luteinizing hormone (LH) and follicle-stimulating hormone (FSH) should be measured to determine anorchia in cases of bilateral nonpalpable gonads. Elevations in LH and FSH, as well as the absence of detectable müllerian-inhibiting substance (MIS), suggest testicular absence. [1,2]
Ultrasound scan This is of very limited value in relocating undescended testis. If intersexuality is suspected, abdomino-pelvic ultrasound combined with genitography should be used. [2,3,4,5]
Magnetic resonance angiography (MRA) This reported to have a nearly 100% sensitivity. But this investigation requires sedation or anesthesia. [2,5,6]
Diagnostic laparoscopy This is done in case of nonpalpable testicles. Laparoscopy is focused in locating the site of the testicles. The usual migration pathway should be thoroughly examined. Diagnostic laparoscopy is the best means of identifying intra-abdominal testis, vas and vessels. If laparoscopy indicates blind-ending gonadal vessels and vas deferens, the patient is said to have vanishing testis syndrome and no further action is necessary. [3,4,5,6]
References
  1. FERGUSON L, AGOULNIK AI. Testicular cancer and cryptorchidism. Front Endocrinol (Lausanne) [online] 2013:32 [viewed 25 August 2014] Available from: doi:10.3389/fendo.2013.00032
  2. HUGHES IA, ACERINI CL. Factors controlling testis descent. Eur J Endocrinol [online] 2008 Dec:S75-82 [viewed 25 August 2014] Available from: doi:10.1530/EJE-08-0458
  3. MATHERS MJ, SPERLING H, RüBBEN H, ROTH S. The undescended testis: diagnosis, treatment and long-term consequences. Dtsch Arztebl Int [online] 2009 Aug, 106(33):527-32 [viewed 25 August 2014] Available from: doi:10.3238/arztebl.2009.0527
  4. BAKR AA, KOTB M. Laparoscopic orchidopexy: the treatment of choice for the impalpable undescended testis. JSLS [online] 1998 Jul-Sep, 2(3):259-62 [viewed 25 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/9876750
  5. BRUNET J, DE MOWBRAY RR, BISHOP PM. Management of the undescended testis. Br Med J [online] 1958 Jun 14, 1(5084):1367-71 [viewed 25 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/13536506
  6. TASIAN GE, COPP HL, BASKIN LS. Diagnostic imaging in cryptorchidism: utility, indications, and effectiveness. J Pediatr Surg [online] 2011 Dec, 46(12):2406-13 [viewed 25 August 2014] Available from: doi:10.1016/j.jpedsurg.2011.08.008
  7. FERGUSON L, AGOULNIK AI. Testicular cancer and cryptorchidism. Front Endocrinol (Lausanne) [online] 2013:32 [viewed 25 August 2014] Available from: doi:10.3389/fendo.2013.00032

Investigations - Followup

Fact Explanation
Ultrasound scan Patient should be followed up later regarding the fertility, occurrence of testicular carcinoma and recurrence of the dislodgement. [1]
References
  1. MARCHETTI F, BUA J, TORNESE G, PIRAS G, TOFFOL G, RONFANI L, ITALIAN STUDY GROUP ON UNDESCENDED TESTES. Management of cryptorchidism: a survey of clinical practice in Italy. BMC Pediatr [online] 2012 Jan 10:4 [viewed 25 August 2014] Available from: doi:10.1186/1471-2431-12-4

Management - Specific Treatments

Fact Explanation
Human chorionic gonadotropin (hCG) Hormonal treatment is indicated in bilateral undescended testis, hypothalamic-pituitary dysfunction, in patients unfit for surgery and when diagnosis of retractile testes is uncertain. Process of testicular descent is hormonally mediated; therefore it can sometimes be induced with hormone administration. hCG is used with varying degrees of success. Multiple dosage schedules have been proposed. Administration of 1,500 to 2,500 units two times per week for four weeks is commonly used regimen. Adverse effects of hormonal therapy are increased in scrotal rugae, pigmentation growth of pubic hair, increased penile size, priapism, premature closure of epiphyseal plate, increased appetite and weight gain. [1,2,3,4,5]
Gonadotropin-releasing hormone (GnRH) GnRH is more effective than hCG in achieving testicular descent, though it is not commonly used due to lack of evidence. [2,3,4]
Orchiopexy Surgery remains the gold standard. Orchiopexy is a surgery to move an undescended testicle into the scrotum and permanently fix it there. Orchidopexy should be performed as early as 6 months because of rarity of spontaneous descent after 6 months. There are several approaches such as inguinal, microvascular, transabdominal, staged Fowler-Stephens orchiopexy and standard Fowler-Stephens orchiopexy. Post-operatively, usage of toys that must be straddled, such as bicycles, should be avoided for two weeks. Sports activities should also be limited in the older child in order to prevent dislodgment of the testis from the scrotum. Early orchidopexy may improve fertility. There are no evidence that it reduces risk of malignancy but allows early identification. [1,3,5,6]
Orchidectomy Orchidectomy is usually reserved for postpubertal men with a contralateral normally positioned testis. This is a a preventive measure as the undescended testis in this age is rarely fertile and the risk of developing testicular carcinoma is very high. [4,5,6]
References
  1. PENSON D, KRISHNASWAMI S, JULES A, MCPHEETERS ML. Effectiveness of hormonal and surgical therapies for cryptorchidism: a systematic review. Pediatrics [online] 2013 Jun, 131(6):e1897-907 [viewed 25 August 2014] Available from: doi:10.1542/peds.2013-0072
  2. COBELLIS G, NOVIELLO C, NINO F, ROMANO M, MARISCOLI F, MARTINO A, PARMEGGIANI P, PAPPARELLA A. Spermatogenesis and cryptorchidism. Front Endocrinol (Lausanne) [online] 2014:63 [viewed 25 August 2014] Available from: doi:10.3389/fendo.2014.00063
  3. MATHERS MJ, SPERLING H, RüBBEN H, ROTH S. The undescended testis: diagnosis, treatment and long-term consequences. Dtsch Arztebl Int [online] 2009 Aug, 106(33):527-32 [viewed 25 August 2014] Available from: doi:10.3238/arztebl.2009.0527
  4. TASIAN GE, COPP HL, BASKIN LS. Diagnostic imaging in cryptorchidism: utility, indications, and effectiveness. J Pediatr Surg [online] 2011 Dec, 46(12):2406-13 [viewed 25 August 2014] Available from: doi:10.1016/j.jpedsurg.2011.08.008
  5. MARCHETTI F, BUA J, TORNESE G, PIRAS G, TOFFOL G, RONFANI L, ITALIAN STUDY GROUP ON UNDESCENDED TESTES. Management of cryptorchidism: a survey of clinical practice in Italy. BMC Pediatr [online] 2012 Jan 10:4 [viewed 25 August 2014] Available from: doi:10.1186/1471-2431-12-4
  6. KLAUBER GT. Management of the undescended testis. Can Med Assoc J [online] 1973 May 5, 108(9):1129-31 [viewed 25 August 2014] Available from: http://www.ncbi.nlm.nih.gov/pubmed/4145116