Undescended testes - Clinicals, Diagnosis, and Management

Pediatric surgery

Clinicals - 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. 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.
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. 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.
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. 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.
Family history Familial predisposition has also been identified. History of undescended testis in father or brothers may be present. Family history
Familial predisposition has also been identified. History of undescended testis in father or brothers may be present.
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. 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.
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. 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.
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. 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.

Clinicals - 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. 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.
Absence of testes in the scrotum During the palpation one or both testes are absent in the scrotum. Absence of testes in the scrotum
During the palpation one or both testes are absent in the scrotum.
Hypertrophied contralateral testes This is a common feature in cases of unilateral disease mostly due to the compensatory effect. Hypertrophied contralateral testes
This is a common feature in cases of unilateral disease mostly due to the compensatory effect.
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. 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.
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. 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.
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. 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.

Investigations - 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. 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.
Serum electrolytes Low serum aldosterone is seen with salt-wasting forms of adrenal hyperplasia which gives rise to hyponatremia and hyperkalemia. Serum electrolytes
Low serum aldosterone is seen with salt-wasting forms of adrenal hyperplasia which gives rise to hyponatremia and hyperkalemia.
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. 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.
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. 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.
Magnetic resonance angiography (MRA) This reported to have a nearly 100% sensitivity. But this investigation requires sedation or anesthesia. Magnetic resonance angiography (MRA)
This reported to have a nearly 100% sensitivity. But this investigation requires sedation or anesthesia.
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. 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.

Investigations - Management

Fact Explanation
Ultrasound scan Patient should be followed up later regarding the fertility, occurrence of testicular carcinoma and recurrence of the dislodgement. Ultrasound scan
Patient should be followed up later regarding the fertility, occurrence of testicular carcinoma and recurrence of the dislodgement.

Management - Specific

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. 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.
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. 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.
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.
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.
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. 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.

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