Version May 2024
INTRODUCTION — Cryptorchidism is the most common congenital abnormality of the genitourinary tract [1]. Most cryptorchid testes are undescended, but some are absent (due to agenesis or atrophy).
The clinical features and evaluation of cryptorchidism will be discussed here. The management of undescended testes is discussed separately. (See "Undescended testes (cryptorchidism) in children: Management".)
TERMINOLOGY
Cryptorchidism – Cryptorchidism by definition suggests a hidden testis: a testis that is not within the scrotum and does not descend spontaneously into the scrotum by four months of age (or corrected age for premature infants) (picture 1). Cryptorchid testes may be absent or undescended.
Absent testis – An absent testis may be due to agenesis or atrophy secondary to intrauterine vascular compromise (eg, prenatal testicular torsion), also known as the "vanishing testis syndrome" or testicular regression syndrome [2]. Boys who have bilaterally absent testes have anorchia. (See "Neonatal testicular torsion", section on 'Prenatal'.)
Undescended testes – True undescended testes stop short along their normal path of descent into the scrotum (figure 1). They may remain in the abdominal cavity (picture 2) or they may be palpable in the inguinal canal (intracanalicular) or just outside the external ring (suprascrotal (picture 3)) [3].
Retractile testes – Retractile testes are normally descended testes that can be pulled into a suprascrotal position by the cremasteric reflex. These testes can be brought into a dependent scrotal position and will remain there if the cremasteric reflex is overcome (eg, by holding the testis in the scrotum for at least one minute to fatigue the cremaster muscle) [4]. (See 'Examination' below.)
Ascending testes – Ascending testes are noted to be in a scrotal position in early childhood and then to "ascend" and become undescended (ie, acquired undescended testes) [5-8]. The ascent may occur at any age before puberty [9].
Ectopic testes – Ectopic testes descend normally through the external ring, but then are diverted to an aberrant position [3]. They may be palpable in the suprapubic region, femoral canal, perineum (most common) (picture 4), or contralateral scrotal compartment (least common) (figure 2). Noninguinal ectopic testes comprise less than 1 percent of all undescended testes.
PATHOGENESIS — The mechanisms responsible for normal testicular descent are not well understood. The intra-abdominal phase of descent is thought to be androgen-independent and mediated by descendin (figure 1) [10,11]. Passage through the inguinal canal, which begins in the 28th week of gestation, is believed to result from interaction between mechanical, hormonal, and neurotransmitter effects. Changes in abdominal pressure, patency of the processus vaginalis, gubernacular regression, androgens, gonadotropins, müllerian inhibiting substance (MIS), and calcitonin gene-related peptide are all thought to play a role [10-16].
The pathogenesis of undescended testes is not as well understood as that of normal testicular descent [17]. Alterations in any of the factors that contribute to normal testicular descent may theoretically result in undescended testes. Gonadotropin deficiency in utero, decreased MIS, and increased expression of estradiol in the placenta have been proposed as contributing factors [18-21].
Absent testes can result from agenesis or, much more commonly, intrauterine vascular compromise (eg, prenatal testicular torsion).
Ascending testes probably represent testes that have enough laxity in the spermatic cord to reach the scrotum in early childhood but become tethered and pulled out of the scrotum as the child grows [11,22]. (See "Clinical features and diagnosis of male hypogonadism", section on 'Clinical features'.)
EPIDEMIOLOGY AND RISK FACTORS — Between 2 and 5 percent of full-term and approximately 30 percent of premature male infants are born with an undescended testis [23-27]. Most (approximately 70 percent) undescended testes descend spontaneously so that by one year of age the prevalence is approximately 1 percent, which is similar to that in adults [23,28,29]. Ascending testes (acquired undescended testes) appear to be more common than congenital undescended testes, although this is controversial [8].
The prevalence of cryptorchidism varies geographically. In a prospective cohort study, cryptorchidism was present in 9 percent (95% CI 7.3-10.8) of newborn boys in Denmark but only 2.4 percent (95% CI 1.7-3.3) of newborn boys in Finland [30]. Whether this variation is due to genetics or environmental factors (eg, endocrine-disrupting chemicals, lifestyle factors), or the clinical definition of undescended versus retractile testis, is unclear.
Risk factors for undescended testes include prematurity, being small for gestational age at birth, and birth weight <2.5 kg [24,25,31-33]. Prenatal exposure to endocrine-disrupting chemicals (eg, diethylstilbestrol, pesticides) also has been associated with cryptorchidism in some studies [34]. (See "Endocrine-disrupting chemicals".)
ASSOCIATED CONDITIONS — Cryptorchidism usually is an isolated finding. However, it may occur in association with endocrine disorders, genetic syndromes, and morphologic abnormalities, particularly if the cryptorchidism is bilateral [31]. Associated conditions may include:
●Abdominal wall defects (eg, prune belly [Eagle-Barrett] syndrome) (see "Prune-belly syndrome", section on 'Clinical manifestations')
●Neural tube defects (eg, myelomeningocele) [35-37]
●Cerebral palsy [38,39]
●Differences of sex development (DSD) (eg, mixed gonadal dysgenesis (picture 5), ovotesticular differences of sex development, persistent Müllerian duct syndrome); patients who have cryptorchidism and hypospadias have an increased likelihood of having an underlying DSD [40-43] (see "Hypospadias: Pathogenesis, diagnosis, and evaluation", section on 'Cryptorchidism')
●Genetic disorders causing diminished testosterone secretion (eg, Kallmann syndrome, Klinefelter syndrome, Prader-Willi syndrome) or action (androgen insensitivity syndrome) (see "Isolated gonadotropin-releasing hormone deficiency (idiopathic hypogonadotropic hypogonadism)" and "Clinical features, diagnosis, and management of Klinefelter syndrome", section on 'Clinical features' and "Prader-Willi syndrome: Clinical features and diagnosis", section on 'Clinical manifestations')
●Genetic disorders associated with primary hypogonadism and increased gonadotropin levels (eg, Noonan syndrome, Laurence-Moon syndrome) (see "Noonan syndrome", section on 'Clinical manifestations')
●Genetic disorders that do not affect gonadotropins or testosterone (eg, trisomy 18, trisomy 13, 22q11.2 deletion syndrome, 1p36 deletion syndrome, Beckwith-Wiedemann syndrome, Smith-Lemli-Opitz syndrome, Cornelia de Lange syndrome)
Genetic alterations are uncommon in boys with cryptorchidism but occur more frequently than in boys without cryptorchidism. In a case-control study, genetic alterations were present in 17 of 600 boys with cryptorchidism (2.8 percent) versus only 1 of 300 boys without cryptorchidism (0.3 percent). The genetic alterations in the boys with cryptorchidism included Klinefelter syndrome in eight and mutations in the insulin-like factor 3 (INSL3) receptor gene (RXFP2) in five [44]. Other studies have identified mutations in the INSL3 gene and the androgen receptor gene in cryptorchid patients [45].
CLINICAL FEATURES — Clinical features of cryptorchidism include an empty and hypoplastic or poorly rugated scrotum or hemiscrotum (picture 1) [3,31]. Inguinal fullness from the testicle or hydrocele/hernia sac may be present.
Approximately 10 percent of cases of cryptorchidism are bilateral [32,46]. Bilateral cryptorchidism is increased when cryptorchidism is associated with other conditions (see 'Associated conditions' above). Among the unilaterally nonpalpable cases, there is a left-sided predominance [46].
The most common location for an undescended testis is just outside the external ring (suprascrotal (picture 3)), followed by the inguinal canal (intracanalicular), and finally the abdomen [47]. In approximately 20 percent of boys with cryptorchidism, at least one testis is nonpalpable [32,46,48,49].
Most testicles that are undescended at birth complete their descent within the first four months of life [28,50]. If they have not descended by four months of age, they are unlikely to descend and generally require surgical placement of the testicle into the scrotum (orchiopexy, orchidopexy) [33]. (See "Undescended testes (cryptorchidism) in children: Management", section on 'Management of undescended testes'.)
Some testes that fully descended in infancy will, later in childhood (typically between the ages of four and eight years), ascend to an undescended position and require surgical management [3-5,8]. (See "Undescended testes (cryptorchidism) in children: Management", section on 'Surgical treatment'.)
COMPLICATIONS AND SEQUELAE — Potential complications and sequelae of true undescended testes (including ascending or acquired undescended testes but not retractile or absent testes) include inguinal hernia, increased risk of testicular torsion and testicular trauma (for intracanalicular testis – from compression against the pubic bone), subfertility, and malignant transformation [4,51,52]. Potential complications of ectopic testes include blunt trauma from compression against the pubic bone and decreased spermatogenesis [3].
Prompt recognition of truly undescended and ectopic testes by the primary care provider and timely referral for treatment can minimize the risk of developing these complications and sequelae. (See "Undescended testes (cryptorchidism) in children: Management", section on 'Complications and sequelae'.)
EVALUATION
History — Important aspects of the history in a patient with cryptorchidism include [31,53]:
●Whether the testes were in a scrotal location in the neonatal period (testes that were in a scrotal location in the neonatal period are more likely to be retractile than truly undescended) (see 'Terminology' above)
●Previous inguinal surgery (may be associated with iatrogenic cryptorchidism related to mechanical tethering of the testis or cord in scar tissue) [54,55]
●Evidence of endocrine abnormalities during pregnancy (eg, maternal androgen exposure, which may result in significant virilization of a female fetus)
●Family history of unexplained neonatal deaths or genital anomalies, abnormal pubertal development, or infertility (may indicate an associated genetic or endocrinologic abnormality) (see 'Associated conditions' above)
Examination
General examination — Although most cases of cryptorchidism are isolated, the general examination of the patient with cryptorchidism should include evaluation for findings suggestive of endocrine, genetic, or metabolic disorders (eg, dysmorphic features; midline defects such as nystagmus, single central maxillary central incisor, hypertelorism, or cleft palate; short stature; tall stature; skeletal anomalies; hypotonia, etc) [53,56]. (See 'Associated conditions' above and "Clinical features and diagnosis of male hypogonadism", section on 'Physical findings'.)
Examination of the testes and genitalia — The testicular examination in the infant and young child requires two hands. The hands may be lubricated with surgical lubricant or warm, soapy water if necessary. One hand is placed near the anterior superior iliac spine and the other on the scrotum. The first hand's finger tips are swept from the anterior iliac spine along the inguinal canal to gently express any retained testicular tissue into the scrotum. A true undescended or ectopic inguinal testis may slide or "pop" under the examiner's fingers during this maneuver. A low ectopic or retractile testis may be felt by the second hand as the testis is milked into the scrotum by the first hand.
Several maneuvers can be used in an attempt to bring a retractile testis into the scrotum or to differentiate an ectopic from a retractile testis [3,57]:
●Having the child sit in the cross-legged position ("tailor's position")
●Placing a warm compress along the inguinal canal
●Placing the child in the knee-chest or squatting position
●Holding the testis that can be manipulated into the dependent portion of the scrotum in position for at least one minute fatigues the cremasteric muscle; after this maneuver, a retractile testis remains in the scrotum whereas an ectopic testis immediately springs out of the scrotum
Differentiation between a retractile and a truly undescended testis can be difficult and any uncertainty should prompt a consultation with a pediatric urologist. (See 'Indications for referral' below.)
If the testis is palpable, the examiner should note the testicular position, consistency, and size in relation to the opposite testis. Although a palpable "nubbin" of tissue may appear to be an atrophic testis, it may actually represent gubernaculum or dissociated epididymis and vas deferens and is not specific enough to avoid the need for exploratory surgery to look for an intraabdominal testis [58].
If a testis cannot be palpated in the inguinal canal or the scrotum, or in the typical ectopic sites (figure 2), evaluation for a nonpalpable testis must be performed. (See 'Unilaterally nonpalpable testis' below.)
A unilaterally nonpalpable testis and enlarged contralateral testis may suggest testicular absence or atrophy, particularly after the onset of puberty [31,59,60]. However, enlargement of the contralateral testis is not specific enough for testicular absence or atrophy to avoid the need for surgery to look for an intra-abdominal testis. (See 'Unilaterally nonpalpable testis' below.)
In addition to examination of the testes, examination of the genitalia should include assessment of the phallus, position of the urethral meatus, scrotum, and inguinal canal [3,31]. (See "The pediatric physical examination: The perineum", section on 'Male genitourinary system'.)
●Phallus – A small phallus may be a clue to a difference of sex development (DSD) or hypopituitarism. (See "Evaluation of the infant with atypical genital appearance (difference of sex development)".)
●Urethral meatus – Hypospadias, particularly if the meatus is scrotal or perineal, is associated with DSDs [33,40,41,61]. (See "Hypospadias: Pathogenesis, diagnosis, and evaluation", section on 'Cryptorchidism' and "Pathogenesis and clinical features of disorders of androgen action", section on 'Clinical features'.)
●Scrotum – A hypoplastic or poorly rugated scrotum may indicate decreased likelihood of spontaneous descent [62]; a bifid scrotum may be a clue to a DSD. (See "Pathogenesis and clinical features of disorders of androgen action", section on 'Partial androgen insensitivity (PAIS)'.)
●Inguinal canal – The inguinal area should be examined for fullness. Inguinal fullness may be associated with an intracanalicular testis, inguinal hernia, or inguinal lymphadenopathy. (See "Evaluation of inguinal swelling in children".)
Almost 90 percent of true or infantile undescended testes have an associated patent processus vaginalis [63,64]. Occult inguinal hernia in boys with untreated undescended testis can present at any time with the typical symptoms or complications, including incarceration. (See "Inguinal hernia in children" and "Inguinal hernia in children", section on 'Clinical features and diagnosis'.)
Imaging — Imaging is not routinely warranted to locate nonpalpable testes. Imaging studies lack the sensitivity and the specificity to alter the need for exploratory surgery [33,65,66]. (See 'Unilaterally nonpalpable testis' below.)
In a systematic review, the sensitivity and specificity of ultrasonography in detecting nonpalpable testes were 45 and 78 percent, respectively [67]. In contrast, the sensitivity and specificity of exploratory surgery are nearly 100 percent. (See "Undescended testes (cryptorchidism) in children: Management", section on 'Exploratory surgery'.)
Imaging may be necessary to evaluate conditions in the differential diagnosis or for surgical planning. As examples:
●Ultrasonography may be indicated to look for gonads or a uterus in a phenotypically male infant with bilaterally nonpalpable testes (to evaluate the possibility of DSD). (See "Evaluation of the infant with atypical genital appearance (difference of sex development)", section on 'Imaging'.)
●Ultrasonography may be warranted in obese boys, in whom intracanalicular testes may be difficult to palpate and would change the surgical approach (from laparoscopic to inguinal). In a systematic review of the literature, the accuracy of ultrasonography in identifying inguinal or scrotal testes was 92 percent, but the included studies were of poor quality and lacked important clinical information (eg, position of contralateral testis, associated clinical findings, etc) [66]. (See "Undescended testes (cryptorchidism) in children: Management", section on 'Surgical treatment'.)
DIAGNOSTIC APPROACH — The differential diagnosis and diagnostic approach to cryptorchidism depends upon whether the testis is palpable or nonpalpable (algorithm 1). (See 'Examination of the testes and genitalia' above.)
Palpable cryptorchid testes — The major considerations in the differential diagnosis of palpable cryptorchid testes include true undescended testes, retractile testes, and ectopic testes (algorithm 1) [3]. The distinction between these can usually be made with a combination of history and examination findings; however, if the diagnosis is uncertain, referral to a urologist may be warranted [31].
●True undescended testis – A true undescended testis is palpable in the inguinal canal (intracanalicular) or just outside the external ring of the inguinal canal (suprascrotal (picture 3)) and has been in this position since birth. It may slide or "pop" under the examiner's fingers as the examiner's hand is swept along the inguinal canal.
●Retractile testis – A retractile testis often can be brought into a dependent scrotal position and will remain there if the cremasteric reflex is overcome (eg, by holding the testis in the scrotum for at least one minute). However, differentiation between a retractile and a truly undescended testis can be difficult and may require consultation with a pediatric urologist. (See 'Indications for referral' below.)
●Ectopic testis – Ectopic testes typically are located in areas that are distinct from undescended testes (eg, suprapubic, perineal (picture 4), femoral (figure 2)). Ectopic testes in the superficial pouch of the inguinal area may be indistinguishable from true undescended testes on examination.
Unilaterally nonpalpable testis
Unilaterally nonpalpable testis without hypospadias — The major considerations in the differential diagnosis of unilaterally nonpalpable testis without hypospadias include true undescended testis, absent testis (agenesis or intrauterine vascular compromise), and ectopic testis (algorithm 1). Surgical exploration is usually necessary to distinguish among these conditions [3,46]. (See "Undescended testes (cryptorchidism) in children: Management", section on 'Exploratory surgery'.)
●In true undescended testis, normal testis, testicular vessels, and vas deferens can be identified along the path of normal testicular descent (picture 2)
●In testicular agenesis, all testicular structures (eg, testis, testicular vessels, vas deferens) are absent
●In intrauterine vascular compromise, remnants of the normal testicular architecture typically remain (picture 6)
●In ectopic testis, normal testis, testicular vessels, and vas deferens are identified in an aberrant position (figure 2)
In a retrospective series of 447 nonpalpable testes, at the time of surgery, 41 percent were atrophic or absent; 20 percent were intra-abdominal; 30 percent were intracanalicular; and 9 percent were in other locations (suprascrotal, upper scrotum, superficial inguinal pouch, perineum) [46].
Unilaterally nonpalpable testis and hypospadias — Phenotypic males with unilaterally nonpalpable testis and hypospadias should be evaluated for a difference of sex development (DSD) (eg, mixed gonadal dysgenesis). This evaluation is discussed separately. (See "Evaluation of the infant with atypical genital appearance (difference of sex development)".)
Diagnostic considerations other than DSD include true undescended testis, absent testis, and ectopic testis (algorithm 1).
Bilaterally nonpalpable testes — The diagnostic evaluation for phenotypic boys with bilaterally nonpalpable testes depends upon their age. Diagnostic considerations include DSDs, true undescended testes, congenital anorchia, and bilateral testicular atrophy (algorithm 1).
Newborn — Bilaterally nonpalpable testes in a phenotypically male newborn require immediate evaluation at the time of birth because the differential diagnosis includes DSDs that have important psychosocial implications and may be life-threatening [33,68]. Immediate consultation with or referral to a multidisciplinary team experienced in the evaluation and management of DSDs usually is warranted. The sex assignment should be deferred until the evaluation for a DSD has been completed, no matter how masculinized the phallus. (See 'Indications for referral' below and "Evaluation of the infant with atypical genital appearance (difference of sex development)" and "Management of the infant with atypical genital appearance (difference of sex development)", section on 'Overview of decisions about sex of rearing' and "Undescended testes (cryptorchidism) in children: Management", section on 'Indications for referral'.)
The differential diagnosis of bilaterally nonpalpable testes in an otherwise phenotypically male newborn includes:
●Congenital adrenal hyperplasia (CAH) with severe virilization in a genotypic female (most likely due to 21-hydroxylase deficiency); although congenital adrenal hyperplasia rarely presents with a nonambiguous male phenotype, it is a life-threatening condition when the salt-wasting form is present; and early diagnosis is essential and aided by newborn screening [69] (see "Genetics and clinical manifestations of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", section on 'Atypical genitalia' and "Uncommon congenital adrenal hyperplasias", section on '11-beta-hydroxylase deficiency')
●A DSD with abnormal testicular activity (eg, persistent Müllerian duct syndrome, gonadal dysgenesis) (see "Causes of differences of sex development", section on 'Global defects in testicular function')
●A disorder of the androgen receptor or hypogonadotrophic hypogonadism (eg, Kallmann syndrome) (see "Pathogenesis and clinical features of disorders of androgen action", section on 'Clinical features' and "Isolated gonadotropin-releasing hormone deficiency (idiopathic hypogonadotropic hypogonadism)", section on 'Clinical presentation')
●An ovotesticular DSD (ie, presence of ovarian and testicular tissue in the same individual (picture 7))
●Bilaterally undescended testes
●Anorchia
The initial laboratory evaluation, which helps to differentiate among these possibilities, includes [70]:
●Karyotype ("stat") for sex determination
●Ultrasonography of the pelvic structures (looking for gonads and/or uterus)
●Adrenal hormones and metabolites to evaluate CAH (eg, serum 17-hydroxyprogesterone, testosterone, cortisol, androstenedione, dehydroepiandrosterone [DHEA], 17-hydroxypregnenolone, and 11-deoxycortisol, and plasma corticotropin [ACTH] and renin activity) (see "Clinical manifestations and diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in infants and children", section on 'Additional testing for infants with equivocal results' and "Uncommon congenital adrenal hyperplasias", section on 'Lipoid congenital adrenal hyperplasia' and "Uncommon congenital adrenal hyperplasias", section on '11-beta-hydroxylase deficiency')
If CAH (21-hydroxylase deficiency) is a concern, serial monitoring of electrolytes may be warranted. (See "Treatment of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in infants and children", section on 'Management in neonates'.)
●Luteinizing hormone (LH), follicle-stimulating hormone (FSH), testosterone, müllerian inhibiting substance (MIS) (to evaluate the presence and function of testicular tissue); these tests are best at approximately six weeks of age during the height of the "mini-puberty of infancy"; testosterone (and possibly other androgen precursors) may need to be assessed after ACTH (to assess for CAH) and/or human chorionic gonadotropin (hCG) stimulation (to assess for testicular presence and/or reserve) (see "Definition, etiology, and evaluation of precocious puberty", section on 'Normal pubertal development' and "Evaluation of the infant with atypical genital appearance (difference of sex development)")
Newborns with evidence of a DSD should undergo further evaluation and management according to the specific findings. (See "Evaluation of the infant with atypical genital appearance (difference of sex development)" and "Management of the infant with atypical genital appearance (difference of sex development)", section on 'Overview of decisions about sex of rearing'.)
Older child — In the older child (ie, after the newborn period) with bilaterally nonpalpable testes, the main diagnostic considerations are testicular absence and bilaterally undescended testes, although nonsalt losing CAH must still be considered in the differential diagnosis. Exploratory surgery is usually necessary for definitive diagnosis and referral to a pediatric urologist is recommended. (See "Undescended testes (cryptorchidism) in children: Management", section on 'Exploratory surgery'.)
Hormonal evaluation for testicular absence may be tried as an initial step in the evaluation of an older boy with bilaterally nonpalpable testes. Definite hormonal evidence of testicular absence may preclude surgical exploration in the rare boy with bilaterally absent testes [66,70-72].
The evaluation includes measurement of serum testosterone, gonadotropins (LH, FSH), and MIS, and a human chorionic gonadotropin (hCG) stimulation test (to evaluate the presence and function of testicular tissue via a rise in testosterone production) [33,51,73-75]. Elevated gonadotropins, absence of MIS, and undetectable or very low baseline testosterone level with little or no increase after hCG stimulation confirm the diagnosis of testicular absence. However, normal gonadotropin levels or detectable MIS warrant surgical exploration, even if the hCG stimulation test is negative, because of the potential complications associated with nonpalpable testicular tissue (eg, testicular cancer, occult testicular torsion). (See "Undescended testes (cryptorchidism) in children: Management", section on 'Complications and sequelae' and "Undescended testes (cryptorchidism) in children: Management", section on 'Exploratory surgery'.)
A systematic review found only two small cohort studies, with a total of fewer than 50 patients, to support hormonal stimulation testing in the evaluation of boys with bilateral nonpalpable cryptorchid testes [66,74,75]. The reviewers concluded that the evidence is insufficient to recommend for or against hormonal stimulation testing in the evaluation of bilateral cryptorchidism.
INDICATIONS FOR REFERRAL — Indications for referral in phenotypic males with cryptorchidism include [33]:
●Phenotypically male newborn infants with bilateral nonpalpable testes, unilaterally nonpalpable testis with hypospadias, or suspected difference of sex development (including congenital adrenal hyperplasia) – Immediate consultation with or referral to a multidisciplinary team (see "Management of the infant with atypical genital appearance (difference of sex development)", section on 'Initial stabilization')
●Bilaterally nonpalpable testes in boys beyond infancy – Referral to a pediatric urologist for exploratory surgery (as an initial step, some clinicians may perform a hormonal evaluation to exclude absent testes) (see 'Older child' above)
●Congenital unilateral nonpalpable testis – Referral to a pediatric urologist for examination under anesthesia and exploratory surgery, ideally between 4 and 12 months of age (see "Undescended testes (cryptorchidism) in children: Management", section on 'Nonpalpable testes')
●Congenital palpable undescended testis (unilateral or bilateral) in infants – Referral to a pediatric urologist for evaluation and possible orchiopexy, ideally between 4 and 12 months of age (see "Undescended testes (cryptorchidism) in children: Management", section on 'Palpable testes')
●Ascending testis in boys beyond infancy – Referral to a pediatric urologist for evaluation and possible orchiopexy whenever the physical examination change is noted (see "Undescended testes (cryptorchidism) in children: Management", section on 'Timing of surgery')
●Palpable tissue in the scrotum that is thought to be an atrophic testis – Referral to a pediatric urologist for exploratory surgery to exclude an intra-abdominal testis [58] (see "Undescended testes (cryptorchidism) in children: Management", section on 'Exploratory surgery')
●Difficulty differentiating between undescended, retractile, or ectopic testis (at any age) – Refer to a pediatric urologist for evaluation and possible orchiopexy if beyond four months of age
SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Undescended testes".)
INFORMATION FOR PATIENTS — UpToDate offers two types of patient education materials, "The Basics" and "Beyond the Basics." The Basics patient education pieces are written in plain language, at the 5th to 6th grade reading level, and they answer the four or five key questions a patient might have about a given condition. These articles are best for patients who want a general overview and who prefer short, easy-to-read materials. Beyond the Basics patient education pieces are longer, more sophisticated, and more detailed. These articles are written at the 10th to 12th grade reading level and are best for patients who want in-depth information and are comfortable with some medical jargon.
Here are the patient education articles that are relevant to this topic. We encourage you to print or email these topics to your patients. (You can also locate patient education articles on a variety of subjects by searching on "patient education" and the keyword[s] of interest.)
●Basics topic (see "Patient education: Undescended testes (The Basics)")
SUMMARY AND RECOMMENDATIONS
●Terminology – A testis that is not within the scrotum and does not descend spontaneously into the scrotum by four months of age (or corrected age for premature infants) is a cryptorchid testis (picture 1). Most cryptorchid testes are undescended, but some are absent (due to agenesis or atrophy). (See 'Terminology' above.)
True undescended testes have stopped short along their normal path of descent into the scrotum (figure 1). They may remain in the abdominal cavity (picture 2) or they may be palpable in the inguinal canal (intracanalicular) or just outside the external ring (suprascrotal (picture 3)). (See 'Terminology' above.)
●Epidemiology and risk factors – Between 2 and 5 percent of full-term and approximately 30 percent of premature male infants are born with an undescended testis. (See 'Epidemiology and risk factors' above.)
Cryptorchidism usually is an isolated finding. However, it may occur in association with endocrine disorders, genetic syndromes, and morphologic abnormalities. (See 'Associated conditions' above.)
●Clinical features – Clinical features of cryptorchidism include an empty and hypoplastic or poorly rugated scrotum or hemiscrotum (picture 1). Inguinal fullness may be present. Most congenitally undescended testes descend spontaneously by four months of age. (See 'Clinical features' above.)
Some testes that have fully descended in infancy will, later in childhood (typically between the ages of four and eight years), ascend to an undescended position. (See 'Clinical features' above.)
●Evaluation and diagnostic approach – The evaluation of cryptorchidism typically includes history and physical examination. Imaging and laboratory studies are not routinely warranted but may be necessary to exclude associated conditions. (See 'Evaluation' above.)
●The diagnostic approach to cryptorchidism depends upon whether the testis is palpable or nonpalpable (algorithm 1). (See 'Diagnostic approach' above.)
•Palpable cryptorchid testes – The diagnosis of a truly undescended testis can be made with history and examination if the testis is palpable in the inguinal canal or just outside the external ring and has been in this position since birth. Unlike retractile testes, palpable undescended testes cannot be milked into a normal scrotal position and/or will not remain in a normal scrotal position if the cremasteric reflex is overcome.
Palpable undescended testes are differentiated from ectopic testes by their position (intracanalicular or suprascrotal (picture 3) versus suprapubic, femoral canal, perineum (picture 4), or contralateral scrotal compartment). (See 'Palpable cryptorchid testes' above.)
•Unilaterally nonpalpable testis – The major diagnostic considerations for a unilaterally nonpalpable testis include true undescended testis, absent testis, and ectopic testis. Surgical exploration is usually necessary to distinguish among these possibilities. (See 'Unilaterally nonpalpable testis' above and "Undescended testes (cryptorchidism) in children: Management", section on 'Exploratory surgery'.)
•Bilaterally nonpalpable testes – The major diagnostic considerations for bilaterally nonpalpable testes include differences of sex development (DSDs), true undescended testes, anorchia, and bilateral testicular atrophy. The diagnostic evaluation differs depending on age. (See 'Bilaterally nonpalpable testes' above.)
●Indications for referral – Phenotypically male newborn infants with bilaterally nonpalpable testes, unilaterally nonpalpable testis with hypospadias, or suspected DSD, including congenital adrenal hyperplasia, should be immediately referred to a multidisciplinary team for evaluation and initial management of possible DSD. Boys beyond the newborn period with bilaterally nonpalpable testes should be referred to a pediatric urologist for evaluation and/or exploratory surgery. (See 'Bilaterally nonpalpable testes' above and "Evaluation of the infant with atypical genital appearance (difference of sex development)" and "Management of the infant with atypical genital appearance (difference of sex development)".)
Additional indications for referral to pediatric urologist may include (see 'Indications for referral' above):
•Congenital unilaterally nonpalpable testis or palpable incompletely descended testis (unilateral or bilateral); referral between 4 and 12 months of age is recommended
•Ascending testis in boys beyond infancy (whenever the examination change is noted)
•Palpable tissue in the scrotum that is thought to be an atrophic testis
•Difficulty differentiating between undescended, retractile, or ectopic testis (at any age)
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
