Acquired undescended testis: putting the pieces together.

Acquired undescended testis is now a well-recognized disorder. It is seen in 1.5% of pre-pubertal boys and accounts for the 1-2% orchidopexy rate in older boys. Its pathogenesis remains largely unclear, but it may be caused by a fibrous remnant of the processus vaginalis. There is much controversy over its management, and the proper management awaits a randomized-controlled trial. Until now, follow-up data are available only for cases of spontaneous descent or pubertal orchidopexy. It is speculated that acquired undescended testis is in fact congenital and because of a short funiculus at birth, allowing a low-scrotal position early in life. However, as the boy grows, the testis might evolve into an undescended state. When testosterone surges at puberty, spontaneous descent occurs in three of every four cases.

The volume of retractile testes.

PURPOSE: We used ultrasound to determine the volume of retractile testes in boys and compared these volumes with normative testicular volume values. MATERIALS AND METHODS: A total of 171 boys were enrolled in the study, of whom 14 were excluded from analysis. The 157 boys included (age 0.8 to 11.5 years) were recruited from 2 different populations. The first subgroup comprised 92 boys previously excluded from a study aimed at obtaining normative values of ultrasonographically scanned testes. The second group included 65 boys who had been referred to our outpatient clinic for nonscrotal testis and who were diagnosed with retractile testis. Testicular volume was measured by ultrasound in a scrotal position or in an inguinal position. Three separate transverse and longitudinal images of each testis were recorded. Length, width and height were measured, and the volume was calculated with the formula for an ellipsoid, π/6 × length × width × height. The highest value of the 3 testicular volumes was determined and taken as the volume measurement. RESULTS: The volumes measured by ultrasound for the 157 boys with 276 retractile testes ranged from 0.18 to 1.49 ml (mean 0.50). The volumes of the retractile testes were significantly smaller than normative values (p <0.001). Furthermore, the testicular volumes of retractile testes measured in an inguinal position were significantly smaller than those measured in a scrotal position (p <0.001). CONCLUSIONS: The volumes of retractile testes are significantly smaller than recently determined normative values.

Prevalence of testicular microlithiasis in asymptomatic males 0 to 19 years old.

PURPOSE: We assessed the prevalence of testicular microlithiasis via ultrasound in asymptomatic males 0 to 19 years old. MATERIALS AND METHODS: We studied only patients with 2 scrotal testes at birth and at examination. We excluded boys with a history of undescended testis, hydrocele, varicocele and syndromes associated with testicular microlithiasis. To assess for testicular microlithiasis, we scanned the scrotum ultrasonographically by recording transverse and longitudinal images of each testis. Classic testicular microlithiasis was defined as 5 or more echogenic foci in either or both testes. Boys with fewer than 5 microliths (but with at least 1) were deemed to have limited testicular microlithiasis. RESULTS: We examined 694 asymptomatic boys between October 2007 and July 2008, of whom 670 participated in the study. Classic testicular microlithiasis was present in 16 boys (2.4%) and limited testicular microlithiasis in 12 (1.8%), yielding a total prevalence of 4.2%. Classic testicular microlithiasis was found in 1 patient younger than 6 years, 8 boys 6 to 12 years old and 7 boys older than 12 years. There was a significant difference in prevalence among the 3 age groups (p = 0.032). Testicular malignancies were not found in any patient. Of the 24 boys excluded from the study testicular microlithiasis was seen in 4. CONCLUSIONS: The prevalence of classic testicular microlithiasis in asymptomatic boys is 2.4% and increases with age.

Long-term testicular growth and position after orchidopexy for congenital undescended testis.

AIM: We aimed to investigate long-term testicular growth and the position of congenital undescended testes (UDT) after orchidopexy (ORP), taking into account that nowadays UDT has to be divided into congenital and acquired forms. METHODS: This study included 181 patients with 199 congenital UDT (91 right-sided, 72 left-sided, 18 bilateral), in whom ORP had been carried out (1986-2006). Long-term testicular position and growth were assessed by clinical examination and ultrasound (US). RESULTS: In 44.5% (65/146), testicular volume of the unilaterally operated congenital UDT was >50th percentile for age. In 55.5% (81/146), the volume was < or =50th percentile, and 13.0% (19/146) of these were < or =10th percentile. In 7 of 34 (20.6%) bilaterally operated congenital UDT, testicular volume was < or =10th percentile. The difference in size between the operated congenital UDT and the contralateral non-operated testes measured by both Prader orchidometer (p = 0.00) and US (p = 0.00) was statistically significant. There was a strong correlation between the orchidometer and US. On examination, 87.9% (175/199) of the operated testes were located in the lower scrotum. CONCLUSION: The findings of this study suggest that ORP for congenital UDT is safe, and even when performed later than current recommendations did not result in severe growth retardation.

The frequency of undescended testis from birth to adulthood: a review.

We performed a systematic review and critique of the literature on the frequency of undescended testis (UDT) among boys from birth to adolescence. Special attention was given to whether previous testicular position was taken into account to distinguish between congenital and acquired UDT. We searched Medline, Embase, Cinahl and the Cochrane Library. Any study reporting on the frequency of UDT was included. Study population age, number of boys studied, period of examination, primary examiner, area of study, study design, ethnicity, definitions used and previous testicular position were analysed. A total of 46 studies met the inclusion criteria. Twenty-three of the 46 (50%) studies involved newborns. Definitions were described in half of the studies; however, the definitions used were heterogeneous. Previous testis position was described in 11% (5/46) of the studies. At birth, in term and/or birth weight >2.5 kg infants, the UDT rate ranged from 1.0 to 4.6%, and in premature and/or birth weight <2.5 kg infants from 1.1 to 45.3%. At the age of 1 year UDT in term and/or birth weight >2.5 kg infants was seen in 1.0-1.5%, at 6 years in 0.0-2.6%, at 11 years in 0.0-6.6% and at 15 years in 1.6-2.2% of boys. The frequency of UDT shows variable figures in the literature. The actual frequency of acquired UDT essentially remains unclear because of the shortage of studies performed at an older age, and of studies reporting on previous testicular position.

[Undescended testis: current views and advice for treatment]. / De niet-scrotale testis: huidige inzichten en advies voor behandeling.

--Undescended testis (UDT) is one of the most common urogenital abnormalities in boys. --UDT is defined as a testis which cannot be brought into a stable scrotal position. --At present, congenital and acquired forms of UDT are recognised. Congenital UDT is defined as a UDT which has never descended from birth. Acquired UDT is defined as a UDT which has been fully descended in the past. --Congenital UDT should be treated surgically between 6 to 12 months of age. --The treatment of acquired UDT is still disputed. As yet, awaiting spontaneous descent at early puberty seems to be the most rational treatment. --In the Netherlands, the high number of late orchidopexies is due to surgery for acquired UDT. To reduce this high number, the guidelines of the first development conference on 'non-scrotal testis' dating back to 1986 should be revised on several points.

Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.

A female infant with dysmorphic facial features, psychomotor retardation, and clitoris hypertrophy is described. Molecular cytogenetic analyses revealed a de novo unbalanced translocation, causing partial monosomy 1p36 and partial trisomy 18q22. Monosomy 1p was confirmed by FISH, and trisomy of the distal part of chromosome 18q was demonstrated by microFISH. Gene copy number changes in these chromosomal regions were determined by array-CGH. The absence of a number of facial dysmorphic signs, and the presence of clitoris hypertrophy indicate that the combination of a del(1p36->pter) with a dup(18q22->qter) may lead to a unique phenotypic constellation. The findings at birth and at age 12 years in our patient are compared with genotype-phenotype correlations discussed in the literature.

[Haemorrhagic colitis in a young male after the use of amoxicillin]. / Hemorragische colitis bij een jongen na amoxicillinegebruik.

A 16-year-old boy had rectal blood loss due to haemorrhagic colitis probably resulting from oral and intravenous administration of amoxicillin. He also had haemolytic anaemia and thrombocytopenia, both also most likely resulting from the use of amoxicillin and/or ibuprofen. In the week following the discontinuation of amoxicillin and ibuprofen, the symptoms of bloody diarrhoea disappeared spontaneously and the blood picture became normal. Haemorrhagic colitis is a known side effect of amoxicillin that is rarely seen. Discontinuation of treatment typically results in a quick and uneventful recovery.

[Urethral meatal stenosis in boys easily overlooked]. / Urethrale-meatusstenose bij jongens gemakkelijk gemist.

Three boys aged 8, 5, 3 and 9 years, respectively, appeared to have urethral meatal stenosis. In the first patient this appeared during a check-up following treatment for balanitis. Patient history revealed that his micturition duration was longer than before. In the second patient, who underwent surgical correction for hypospadia, it was discovered because he took longer to urinate than his brother. In the third patient stenosis was observed during an appointment for a retracted testicle; he had been circumcised earlier for cultural reasons. Meatomy was performed under anaesthesia in all 3 patients, after which the micturition duration and stream velocity were normal. The third patient continued to have an extremely large bladder capacity and residual volume. Meatal stenosis may lead to obstructive uropathy, urinary tract infection and eventually damage to renal parenchyma. Symptomatic presentation can be late. Diagnostic tests include urine analysis and culture, and uroflowmetry. Visual inspection by spreading the meatal dimple to visualise a pinhole urethra cannot be overemphasised.

[From gene to disease: basal cell naevus syndrome]. / Van gen naar ziekte; basaalcelnaevussyndroom.

Nevoid basal cell carcinoma syndrome (NBCCS, basal cell naevus syndrome, Gorlin syndrome) is an autosomal dominant disorder, caused by mutations in the PTCH gene mapped to chromosome 9q22.3. It is characterised by multiple basal cell carcinomas, keratocysts of the jaws, palmar and plantar pits, cerebral ectopic calcification and several skeletal anomalies. Occasionally, patients with NBCCS develop other neoplasms, particularly medulloblastomas and ovarian fibromas, indicating that the PTCH gene is a tumor-suppressor gene. Early recognition and careful follow-up are needed. Guidelines for managing these patients are presented.

Acquired undescended testes and fertility potential: is orchiopexy at diagnosis better than awaiting spontaneous descent?

The aim of this study was to evaluate testicular function in men with previous acquired undescended testis (UDT) in whom orchiopexy was performed at diagnosis compared with a similar group of men in whom spontaneous descent was awaited until puberty. Secondly, we examined the influence of age at orchiopexy on fertility parameters in adult life. A total of 169 men of the 'orchiopexy at diagnosis' group and 207 men of the 'wait and see' protocol group were invited for participation. All participants underwent an andrological evaluation, including medical history, physical examination, scrotal ultrasound, determination of reproductive hormones, and semen analysis. Results were compared for men in whom orchiopexy was performed at diagnoses with men in whom spontaneous descent was awaited until puberty followed by orchiopexy in case of non-descent. In the 'orchiopexy at diagnosis' group, 63 men of whom 14 with bilateral UDT, and in the 'wait and see' protocol group, 65 men of whom 15 with bilateral UDT were included. For unilateral UDT Inhibin B was found to be significantly lower and median progressive motility was higher in men with orchiopexy at diagnosis. For bilateral UDT, semen concentration and progressive motility showed a trend toward a favorable outcome for orchiopexy at diagnosis. Age at orchiopexy being under or above 10 years of age had no significant influence on the fertility potential. The outcome of physical examination, scrotal ultrasound, endocrine function, and semen analysis indicates a compromised fertility potential in men with previous acquired UDT. None of the protocols proved to be superior. For bilateral UDT, a trend toward favorable outcome of orchiopexy at diagnosis was seen. Furthermore, age at orchiopexy did not have an influence on fertility parameters. Therefore, in our opinion a 'conservative policy' is warranted for unilateral UDT, especially because over 50% of acquired UDT descend spontaneously.

Incidence of forearm and hand ischaemia related to radial artery cannulation in newborn infants.

We report the incidence of transient and permanent ischaemia of the forearm and hand caused by radial artery cannulation in a series of 98 newborn infants. Birth weight ranged from 550 to 3920 g (median 1600 g) and gestational age ranged from 26 to 40 weeks (median 31 weeks). In 4 of the 98 infants transient ischaemia of the forearm and/or hand occurred. In three infants the onset of ischaemia was probably related to thrombo-embolic events and in one infant to inadequate palmar collateral circulation. Permanent ischaemic damage with tissue loss did not occur in any infant. It is concluded that permanent ischaemic damage to the forearm and/or the hand with tissue loss, attributable to radial artery cannulation, is seldom encountered in newborn infants. In minimizing the risk of ischaemia, careful assessment of palmar collateral circulation prior to cannulation and of all factors predisposing to the onset of ischaemia is essential. Immediate removal of the catheter at the earliest signs of ischaemia, is essential to prevent ensuing tissue loss.

Accuracy of oscillometric blood pressure measurement in critically ill neonates with reference to the arterial pressure wave shape.

OBJECTIVE: To perform further evaluation of the oscillometric device for neonatal arterial blood pressure (ABP) measurement, using a catheter-manometer system (CMS) for accurate intraarterial measurement. We aimed to describe the influence of the radial artery wave shape on oscillometric ABP determination, as pressure wave-shape influences the relationships between systolic arterial pressure (SAP), diastolic arterial pressure (DAP) and mean arterial pressure (MAP) in the wave. These relationships are part of the algorithms contributing to the final ABP determination in the oscillometric device. DESIGN: Intra-patient comparison of two blood pressure measurement systems. SETTING: Neonatal intensive care unit. PATIENTS: In 51 critically ill newborn infants, ABP was determined oscillometrically in the brachial artery and, simultaneously, invasively in the radial artery using a high-fidelity CMS. Clinical data of the infants were: gestational age: 29 (25-41) weeks; birthweight: 1200 (500-3675) g, postnatal age: 6 (2-46) h. METHODS: Statistical analysis was performed with the paired Student's t-test. Multiple regression analysis was used to determine the influence of birthweight and height of the blood pressure on the results. MEASUREMENTS AND MAIN RESULTS: In 51 infants, 255 paired values of SAP, DAP and MAP were recorded. In all recordings, we determined the relationship between SAP, DAP and MAP, using the equation: MAP = alpha%(SAP - DAP) + DAP. For SAP, DAP, MAP and alpha, we computed mean differences (bias) and the limits of agreement (precision). Biases for SAP, DAP, MAP and alpha were significantly different from zero (P < 0.001) and the limits of agreement for SAP, DAP and MAP were wide: 18.8 mmHg, 17.2 mmHg and 15.2 mmHg respectively. The relationship between invasive and noninvasive values is only partly (7-19%) influenced by the height of the blood pressure; low values of SAP, DAP and MAP tend to give overestimated oscillometric values. In the relationship between SAP, DAP and MAP, alpha was found to be 47% invasively (as generally found in the radial artery in newborns) and 34% noninvasively (as generally found in the brachial/radial artery in adults). CONCLUSIONS: Inaccuracy of the oscillometric device may be partly explained by the incorporation of an inappropriately fixed algorithm for final ABP determination in newborns. Care should be taken when interpreting the oscillometrically derived values in critically ill newborn infants.

Intra-arterial pressure measurement in neonates: dynamic response requirements.

A computer simulation of a catheter manometer system was used to quantify measurement errors in neonatal blood pressure parameters. Accurate intra-arterial pressure recordings of 21 critically ill newborns were fed into this simulated system. The dynamic characteristics, natural frequency and damping coefficient, were varied from 2.5 to 60 Hz and from 0.1 to 1.4, respectively. As a result, errors in systolic, diastolic and pulse arterial pressure were obtained as a function of natural frequency and damping coefficient. Iso-error curves for 2%, 5% and 10% were constructed. Using these curves, the maximum inaccuracy of any neonatal catheter manometer system can be determined and used in the clinical setting.

Congenital camptodactyly associated with the 48,XXYY syndrome.

A male premature infant presented with slow development and congenital camptodactyly of both hands. Chromosome analysis showed a 48,XXYY karyotype. As far as we know, this is the first report describing congenital camptodactyly associated with the 48,XXYY syndrome.

Retrograde flow detection in the radial artery as a means to assess palmar collateral circulation in newborn infants.

The aim of this clinical study was to determine whether Doppler ultrasound can be used in newborn infants to assess the adequacy of palmar collateral circulation. Retrograde flow in the radial artery, distal to the site of manual occlusion of the vessel, was studied by Doppler technique. Forty-seven newborn infants, who underwent percutaneous radial artery cannulation were studied. Prior to cannulation palmar collateral circulation was tested in each infant, using the timed Allen test and was considered to be adequate. Pulsatile retrograde flow could be demonstrated in 11 out of 47 infants, but not in 36 of the 47 studied. During the period of cannulation none of the infants showed any sign of vascular insufficiency of the hand. It can be concluded that in newborn infants, the detection of pulsatile retrograde flow in the radial artery, using a Doppler flow meter, does not appear to have advantages over the Allen test as an indicator of adequate palmar collateral circulation.

[Acquired non-scrotal testis in boys: an underrated phenomenon]. / De verworven niet-scrotale testis bij jongens: een onderschat fenomeen.

OBJECTIVE: To differentiate undescended testis into a congenital and an acquired form using earlier information on testis position. DESIGN: Descriptive. SETTING: Paediatric outpatients' clinic, Medical Centre Alkmaar, the Netherlands. METHOD: In a 3-year period (1991-1994), 77 boys were referred to the paediatric outpatients' clinic for non-descended testis. The testis positions in their earlier years were documented. The undescended testis was defined according to these data as a congenital or an acquired condition. RESULTS: In 23 boys (age: 2.2-12.7; mean: 7.6 years) the testis turned out to be retractile. In 25 boys (0.1-14.3 years; mean: 3.1) the diagnosis was congenital undescended testis; 21 of these underwent orchidopexy. In 29 boys (1.9-14.3 years: mean: 9.9) the non-descent was an acquired condition. Ten of these boys were treated with orchidopexy as initial therapy. In eleven hormonal therapy was given (human chorionic gonadotrophin administered by intramuscular injection) resulting in a fully descended position of the testis in 8 boys. CONCLUSION: The phenomenon of acquired non-descended testis is frequent. Incidence and aetiology are insufficiently known. There is no general agreement whether the condition should be treated and which treatment should be favoured. Very likely, the relatively high incidence of orchidopexy operations in the Netherlands is mainly due to operative treatment of the acquired undescended testis.

[Diagnostic image (196). A newborn with fever and a swollen finger]. / Diagnose in beeld (196). Een pasgeborene met koorts en met een dik vingertje.

A 5-day-old girl was presented with monoarthritis of the proximal interphalangeal joint of the right fourth digit, without signs of septic illness or meningitis, due to group B Streptococcus agalactiae.

[Diagnostic image (194). A boy with a translucent swelling on the glans penis]. / Diagnose in beeld (194). Een jongen met een doorzichtige zwelling op de glans.

A 5-year-old boy presented with a swelling on the glans penis resulting from a parameatal, urethral cyst.

[Lichen sclerosus et atrophicus as a cause of genital lesions in a girl]. / Lichen sclerosus et atrophicus als oorzaak van genitale afwijkingen bij een meisje.

In a 10-year old girl with irritated vulva lichen sclerosus et atrophicus (LSA) was diagnosed. She was successfully treated with local application of equal amounts of a cortisol ointment and zinc oil. LSA is a disease of the skin infrequently seen in children, and then mostly in girls. Diagnosis is based on typical lesions in the anogenital region (sharply delineated ivory discoloration, moderate sclerosis and atrophy, haemorrhagic erosions). Knowledge of this disease is important in order to distinguish it from sexual abuse.