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Frontiers in Endocrinology 2018Cryptorchidism is reported in 40-50% of small case series of cerebral palsy (CP) and attributed to hypothalamic-pituitary-gonadal axis abnormalities, intellectual...
BACKGROUND
Cryptorchidism is reported in 40-50% of small case series of cerebral palsy (CP) and attributed to hypothalamic-pituitary-gonadal axis abnormalities, intellectual disability (ID), or cremaster spasticity. We collected demographic and clinical data to define the frequency of cryptorchidism and clinical comorbidities in a large CP population.
METHODS
Electronic health record data were collected for all male patients ≥7 years of age seen in a large, multidisciplinary CP clinic between 2000 and 2016. Variables including age, testicular position, surgical findings, CP severity, birth history, and comorbidities were tested for association using univariable and stepwise backward logistic regression analyses.
RESULTS
Of 839 established patients, testis position was scrotal in 553, undescended in 185 (24%), retractile in 38 (5%), and undocumented in 63 cases. Cryptorchidism were diagnosed at a mean age of 5.8 years, with 20% documented as acquired, and testes were most commonly in the superficial inguinal pouch (41%) and associated with an inguinal hernia (56%). Severity was bilateral in 114/166 (69%) undescended and 24/36 (66%) retractile cases, respectively. Mean birth weight and the frequency of prematurity (55, 58, and 54%) and multiple birth (14, 13, and 9%) were not significantly different among the three groups. We observed a strong ordinal trend in the frequency of comorbidities, including quadriplegia, syndromic features/known genetic disease, intrauterine growth restriction (IUGR), death, brain malformations, seizures, gastrostomy, absent continence, ID and hearing, speech or visual impairment, with the retractile group holding the intermediate position for the majority. The stepwise multivariable analysis showed independent positive associations of cryptorchidism with quadriplegia, syndromic features/known genetic disease, hearing loss, and absent continence, and inverse associations with gestational age and multiple birth.
CONCLUSION
These data suggest that cryptorchidism is less common than previously reported in CP cases, but most strongly associated with quadriplegia. Delayed diagnosis may be related to an acquired condition or to the multiple additional functional deficits that occur in this population. Our data suggest that UDT and CP may both be components of malformation syndromes occurring in singleton births whose clinical features are more likely to include earlier delivery, IUGR, hearing loss, and/or global spasticity.
PubMed: 29713311
DOI: 10.3389/fendo.2018.00151 -
Urology Case Reports May 2023We describe a case of spontaneous, rapid, atraumatic transcanalicular translocation of a previously retractile testis into the abdomen of a post-pubertal 16-year-old...
We describe a case of spontaneous, rapid, atraumatic transcanalicular translocation of a previously retractile testis into the abdomen of a post-pubertal 16-year-old male. The testis was lowered back into the inferior scrotum laparoscopically, through a patent processus vaginalis, and was under no tension in that location without lengthening of cord structures. At 7 months postoperative, the patient reported bilateral intrascrotal testicles with no further complications. This exceptional case demonstrates that post-pubertal males with a history of retractile testis may be at risk for developing testicular translocation into the abdomen.
PubMed: 37089195
DOI: 10.1016/j.eucr.2023.102397 -
European Review For Medical and... Aug 2015Failure to replace the testes in the scrotum during hernia repair leads to iatrogenic undescended testes. At other times, the testes may spontaneously move back to the...
OBJECTIVE
Failure to replace the testes in the scrotum during hernia repair leads to iatrogenic undescended testes. At other times, the testes may spontaneously move back to the inguinal area after being placed in the scrotum, thus resulting in ascending testes. The cases in this study were assessed.
PATIENTS AND METHODS
Records of 910 boys operated due to inguinal hernia were assessed retrospectively. Following hernia repair, the testes were placed in the scrotum. After the operation, all the testes were checked for being in the scrotum. They were called for follow-up after the operation. Their testes were checked for remaining in the scrotum.
RESULTS
Ascending testes were detected in 4 (0.43%) of the patients. These patients had scrotal hypoplasia and/or retractile testes. Their age ranged between 1-3 years. Ascending testes were bilateral in 2 patients, and on the right side in 2. Human chorionic gonodotropin (hCG) was initiated in 3 patients. Two of them improved. Two underwent scrotal orchiopexy.
CONCLUSIONS
These patients may benefit from hCG in the early postoperative period. Later, scrotal orchiopexy may be needed. Patients who have retractile testes or scrotal hypoplasia in addition to inguinal hernia need orchiopexy together with herniorrhaphy.
Topics: Adolescent; Child; Child, Preschool; Cryptorchidism; Hernia, Inguinal; Humans; Infant; Male; Orchiopexy; Postoperative Period; Retrospective Studies; Testicular Diseases
PubMed: 26367711
DOI: No ID Found -
African Health Sciences Dec 2017Abnormalities of the male external genitalia and groin, a set of lesions which may be congenital or acquired, are rather obscured to many kids and their parents and...
BACKGROUND
Abnormalities of the male external genitalia and groin, a set of lesions which may be congenital or acquired, are rather obscured to many kids and their parents and Nigerian health care system has no formal program to detect them.
OBJECTIVES
To identify and determine the prevalence of abnormalities of external genitalia and groin among primary school boys in Bida, Nigeria.
METHODS
This was a cross-sectional study of primary school male pupils in Bida. A detailed clinical examination of the external genitalia and groin was performed on them.
RESULTS
Abnormalities were detected in 240 (36.20%) of the 663 boys, with 35 (5.28%) having more than one abnormality. The three most prevalent abnormalities were penile chordee (37, 5.58%), excessive removal of penile skin (37, 5.58%) and retractile testis (34, 5.13%). The prevalence of complications of circumcision was 15.40% and included excessive residual foreskin, excessive removal of skin, skin bridges and meatal stenosis. Undescended testes were seen in 6 (0.90%) boys, with median age of 9 years and 2 were bilateral. Also, micropenis was detected in 27 (4.07%) of the pupils.
CONCLUSION
Inguino-penoscrotal abnormalities are common in our community (36.20%). Screening of pre-school and school children to detect them should be introduced into the school health programs in Nigeria.
Topics: Child; Circumcision, Male; Cross-Sectional Studies; Cryptorchidism; Female; Genital Diseases, Male; Groin; Hernia, Inguinal; Humans; Male; Nigeria; Penis; Prevalence; Scrotum
PubMed: 29937883
DOI: 10.4314/ahs.v17i4.20 -
Endocrine Journal Sep 2016Although MAMLD1 on chromosome Xq28 is known as a causative gene for 46,XY disorders of sex development, clinical information is virtually limited in patients of infancy...
Although MAMLD1 on chromosome Xq28 is known as a causative gene for 46,XY disorders of sex development, clinical information is virtually limited in patients of infancy to early childhood. Here, we report long-term genital and hormonal findings in three previously described Japanese patients with MAMLD1 mutations, i.e., patients 1 and 2 with p.E197X and patient 3 with p.R726X. As previously reported, patients 1-3 exhibited penoscrotal hypospadias with chordee, microphallus, bifid/hypoplastic scrotum, and/or bilateral cryptorchidism/retractile testes, in the presence of sufficiently high serum basal or hCG-stimulated testosterone values in the mini-pubertal period to early childhood. Subsequently, patient 1 had low serum hCG-stimulated testosterone value (126 ng/dL) at 13 11/12 years of age, and manifested microphallus (4.5 cm), relatively small testes (left 8 mL and right 10 mL), Tanner stage 3 genitalia and pubic hair development at 18 3/12 years of age. Similarly, patients 2 and 3 showed mild hypergonadotropic hypogonadism at 7 0/12 and 9 9/12 years of age, respectively, with serum GnRH-stimulated LH values of 5.5 and 7.2 mIU/mL and FSH values of 10.3 and 19.8 mIU/mL and hCG-stimulated testosterone values of 70 and 80 ng/dL, respectively. Testis ultrasound studies delineated microlithiasis in patients 1 and 3. These results imply for the first time deterioration of testicular function with age in patients with pathologic MAMLD1 mutations.
Topics: Adolescent; Child; Codon, Nonsense; Cryptorchidism; DNA-Binding Proteins; Humans; Hypospadias; Male; Nuclear Proteins; Penis; Testis; Testosterone; Transcription Factors
PubMed: 27383042
DOI: 10.1507/endocrj.EJ16-0143 -
Journal of Pediatric Urology Jun 2023Accurate referral of boys with suspected undescended testes (UDT) is of importance to preserve fertility and reduce risk of future testicular cancer. While late referral...
BACKGROUND
Accurate referral of boys with suspected undescended testes (UDT) is of importance to preserve fertility and reduce risk of future testicular cancer. While late referral is well studied, there is less knowledge about incorrect referrals, hence, referral of boys with normal testes.
OBJECTIVE
To evaluate the proportion of UDT referrals that did not lead to surgery or follow-up, and to assess risk factors for referral of boys with normal testes.
STUDY DESIGN
All UDT referrals to a tertiary center of pediatric surgery during 2019-2020 were retrospectively assessed. Only children with suspected UDT in the referral (not suspected retractile testicles) were included. Primary outcome was normal testes at examination by a pediatric urologist. Independent variables were age, season, region of residence, referring care unit, referrer's educational level, referrer's findings, and ultrasound result. Risk factors for not needing surgery/follow-up were assessed with logistic regression and presented as adjusted odds ratios with a 95% confidence interval (aOR, [95% CI]).
RESULTS
A total of 378 out of 740 included boys (51.1%) had normal testes. Patients >4 years (aOR 0,53, 95% CI [0,30-0,94]), referrals from pediatric clinics (aOR 0.27, 95% CI [0.14-0.51]) or surgery clinics (aOR 0.06, 95% CI [0.01-0.38]) had lower risk of normal testes. Boys referred during spring (aOR 1.80, 95% CI [1.06-3.05]), by a non-specialist physician (aOR 1.58, 95% CI [1.01-2.48]) or referrer's description of bilateral UDT (aOR 2.34, 95% CI [1.58-3.45]), or retractile testes (aOR 6.99, 95% CI [3.61-13.55]) had higher risk of not needing surgery/follow-up. None of the referred boys that had normal testes had been re-admitted at the end of this study (October 2022).
DISCUSSION
Over 50% of boys referred for UDT had normal testes. This is higher or equal to previous reports. Efforts to reduce this rate should in our setting probably be directed towards well-child centers and training in examination of testicles. The main limitation of this study is the retrospective design and the rather short follow-up time, which however should have very modest effect on the main findings.
CONCLUSION
Over 50% of boys referred for UDT have normal testes. A national survey regarding the management and examination of boys testicles has been launched and directed at well-child centers to further evaluate the findings of the current study.
Topics: Male; Child; Humans; Infant; Cryptorchidism; Testicular Neoplasms; Retrospective Studies; Risk Factors; Referral and Consultation
PubMed: 36898865
DOI: 10.1016/j.jpurol.2023.02.016 -
Global Pediatric Health 2019Cryptorchidism, or undescended testes, is the most common congenital genitourinary anomaly. A failure or delay of treatment may result in reduced fertility or an...
Cryptorchidism, or undescended testes, is the most common congenital genitourinary anomaly. A failure or delay of treatment may result in reduced fertility or an increased risk of testicular cancer. The American Urological Association (AUA) recommends that a scrotal ultrasound (SUS) not be performed in the preoperative management of cryptorchidism. This study investigated how likely pediatricians were to perform SUS despite the AUA guidelines. We retrospectively studied 243 patients referred to a single pediatric urology practice for clinically diagnosed testis pathology including undescended testis, hydrocele, and retractile testis over a 4-year period (January 1, 2015, to December 30, 2018). A total of 72 patients (29.6%) underwent a SUS ordered by their pediatrician prior to the pediatric urology visit. Pediatricians should be aware that SUS performed prior to pediatric urological evaluation does not alter management and is associated with a significant financial cost in patients with cryptorchidism or hydrocele.
PubMed: 31803796
DOI: 10.1177/2333794X19890772 -
Urology Case Reports Nov 2022Retractile testes have been associated with male factor infertility. However, whether surgical correction is indicated in those males is unknown. Herein, we report a...
Retractile testes have been associated with male factor infertility. However, whether surgical correction is indicated in those males is unknown. Herein, we report a case of a 37 year old male with primary infertile for 7 years with no apparent cause other than retractile testes. Bilateral orchidopexy was done and his wife achieved spontaneous pregnancy and delivery of a healthy girl.
PubMed: 36111290
DOI: 10.1016/j.eucr.2022.102207 -
World Journal of Clinical Cases Jun 2016A rare entity of persistent mullerian duct syndrome usually presents with a common symptom of undescended testis (UDT) or hernia. Male pseudo-hermaphroditism with...
A rare entity of persistent mullerian duct syndrome usually presents with a common symptom of undescended testis (UDT) or hernia. Male pseudo-hermaphroditism with persistent internal mullerian duct structures can present with a 46, XY karyotype with normal external genitalia and. It arises due to deficiency of anti-mullerian substance, resulting from reduced production/responsiveness to mullerian duct, leading to persistence of mullerian duct along with normal development of Wolffian duct structures. Presence of mullerian structure prevents testicular descent increasing the risk of testicular vanishing syndrome. The authors here report a case of 16 years old phenotypical male who came with retractile right sided testis and left side UDT in the urology out-patient department. Explorative laparotomy was performed and an ill-defined mass was excised and sent for histopathological examination. Histopathology revealed presence of mullerian structures. The serum testosterone level was normal, buccal smear cytology and karyotyping revealed a 46, XY genotype of the patient.
PubMed: 27326401
DOI: 10.12998/wjcc.v4.i6.151 -
Oncology (Williston Park, N.Y.) Jun 2017
Topics: Adult; Fertility Preservation; Humans; Leydig Cell Tumor; Magnetic Resonance Imaging; Male; Orchiectomy; Testicular Neoplasms; Testis; Treatment Outcome; Ultrasonography
PubMed: 28620904
DOI: No ID Found