Persistent Müllerian duct syndrome (PMDS) presenting as bilateral cryptorchidism and left-sided inguinal hernia.

PMDS (persistent Müllerian duct syndrome) is a rare disorder of sex development characterised by the presence of Müllerian duct remnants in a phenotypically male individual with a 46XY karyotype. Radiological investigations play a crucial role in diagnosing and characterising this condition. Ultrasound and MRI are the modalities of choice. They help to non-invasively localise the gonads and Müllerian duct derivatives. Broadly, PMDS has two anatomical variants: male type and female type. The case report presented here does not fit into these classically described variants and can be called a variant of the female type. There is a risk of infertility and malignant transformation of undescended testis and Müllerian duct derivatives in cases of PMDS. Hence, management is focused on preventing these risks. Surgical intervention involves orchidopexy, removal of Müllerian duct derivatives and inguinal hernia repair.

Hyperbaric oxygen treatment in bilateral orchiopexy and post-circumcision haematoma in a thrombocytopenic patient with Noonan syndrome.

Hyperbaric oxygen treatment (HBOT) can be utilised for necrotising soft tissue infections, clostridial myonecrosis (gas gangrene), crush injuries, acute traumatic ischaemia, delayed wound healing, and compromised skin grafts. Our case was a 17-month-old male patient with Noonan syndrome, idiopathic thrombocytopenic purpura, and bilateral undescended testicles. Haematoma and oedema developed in the scrotum and penis the day after bilateral orchiopexy and circumcision. Ischaemic appearances were observed on the penile and scrotal skin on the second postoperative day. Enoxaparin sodium and fresh frozen plasma were started on the recommendation of haematology. Hyperbaric oxygen treatment was initiated considering the possibility of tissue necrosis. We observed rapid healing within five days. We present this case to emphasise that HBOT may be considered as an additional treatment option in patients with similar conditions. To our knowledge, no similar cases have been reported in the literature.

Clinical characteristics and outcome of children with acute cryptorchid testicular torsion: A single-center, retrospective case series study.

BACKGROUND: Cryptorchidism and testicular torsion (TT) are relatively common conditions in clinical practice; however, sparse information about cryptorchid TT is available in the current literature. METHODS: We retrospectively reviewed the clinical characteristics, treatment modalities, and long-term outcomes of pediatric patients treated for acute cryptorchid TT. RESULTS: We found eight patients with unilateral acute cryptorchid TT with a prevalence of 8.9% (8/90) among all TT cases. The left testis was affected in six patients. The median age of patients at the time of the surgery was 65 months (interquartile range (IQR) 4-136 months). The median duration of symptoms was 16 h (IQR 9-25 h), while the median time to treatment was 60 min (IQR 59-63 min). The most common symptoms were pain (abdominal and inguinal) and inguinal mass with no palpable testis in the ipsilateral hemiscrotum. Preoperative color Doppler ultrasonography revealed absent or decreased testicular blood flow in the affected testes in 7/8 of patients. Various degrees of testicular torsion (median 540°, min 360°, max 1260°) were found during surgery. A necrotic testis that led to orchidectomy was found in 4/8 of patients. The median follow-up period was 42.6 months (IQR 12.5-71.2 months), revealing only one patient with testicular atrophy. The final testicular salvage rate was 35%. CONCLUSIONS: Greater awareness among caregivers and primary care physicians about acute cryptorchid TT is required to improve their timely diagnosis and treatment. A physical examination of the external genitalia and inguinal regions should be mandatory to attain a proper diagnosis and treatment without delay.

Undiagnosed RASopathies in infertile men.

RASopathies are syndromes caused by congenital defects in the Ras/mitogen-activated protein kinase (MAPK) pathway genes, with a population prevalence of 1 in 1,000. Patients are typically identified in childhood based on diverse characteristic features, including cryptorchidism (CR) in >50% of affected men. As CR predisposes to spermatogenic failure (SPGF; total sperm count per ejaculate 0-39 million), we hypothesized that men seeking infertility management include cases with undiagnosed RASopathies. Likely pathogenic or pathogenic (LP/P) variants in 22 RASopathy-linked genes were screened in 521 idiopathic SPGF patients (including 155 CR cases) and 323 normozoospermic controls using exome sequencing. All 844 men were recruited to the ESTonian ANDrology (ESTAND) cohort and underwent identical andrological phenotyping. RASopathy-specific variant interpretation guidelines were used for pathogenicity assessment. LP/P variants were identified in PTPN11 (two), SOS1 (three), SOS2 (one), LZTR1 (one), SPRED1 (one), NF1 (one), and MAP2K1 (one). The findings affected six of 155 cases with CR and SPGF, three of 366 men with SPGF only, and one (of 323) normozoospermic subfertile man. The subgroup "CR and SPGF" had over 13-fold enrichment of findings compared to controls (3.9% vs. 0.3%; Fisher's exact test, p = 5.5 × 10-3). All ESTAND subjects with LP/P variants in the Ras/MAPK pathway genes presented congenital genitourinary anomalies, skeletal and joint conditions, and other RASopathy-linked health concerns. Rare forms of malignancies (schwannomatosis and pancreatic and testicular cancer) were reported on four occasions. The Genetics of Male Infertility Initiative (GEMINI) cohort (1,416 SPGF cases and 317 fertile men) was used to validate the outcome. LP/P variants in PTPN11 (three), LZTR1 (three), and MRAS (one) were identified in six SPGF cases (including 4/31 GEMINI cases with CR) and one normozoospermic man. Undiagnosed RASopathies were detected in total for 17 ESTAND and GEMINI subjects, 15 SPGF patients (10 with CR), and two fertile men. Affected RASopathy genes showed high expression in spermatogenic and testicular somatic cells. In conclusion, congenital defects in the Ras/MAPK pathway genes represent a new congenital etiology of syndromic male infertility. Undiagnosed RASopathies were especially enriched among patients with a history of cryptorchidism. Given the relationship between RASopathies and other conditions, infertile men found to have this molecular diagnosis should be evaluated for known RASopathy-linked health concerns, including specific rare malignancies.

[A Case of Testicular Torsion of Retractile Testis Requiring Orchidectomy].

We report a case of testicular torsion in an 8-year-old who was referred to our hospital for right groin pain. He was diagnosed with right retractile testis during a 12-month check-up. However, instead of performing orchiopexy, he was placed under observation until the age of 5, after which he did not seek medical attention. Physical examination revealed swelling and tenderness in the right inguinal region and no palpable testis in the right scrotum. Ultrasound and computed tomography revealed right testicular torsion, and emergency surgery was performed. Intraoperative findings revealed a dark and ischemic testis that was twisted at 180°in the right inguinal region. There was no improvement in blood flow even after the testicular torsion was released; therefore, right orchidectomy with left orchiopexy was performed. Although the incidence of testicular torsion is higher in patients with an undescended testis than in those with a normally positioned scrotal position testis, reports of testicular torsion associated with a retractile testis are rare.

Prevalence of urologic sequelae and bladder and bowel dysfunctions in patients with congenital Zika syndrome: A multicenter evaluation of the Zika virus bladder and bowel sequelae assistance network.

INTRODUCTION: Neurogenic bladder was first confirmed as a urological sequela of Congenital Zika Syndrome (CZS) in 2018. Further clinical-epidemiological evidence also confirmed neurogenic bowel dysfunction and cryptorchidism. To strengthen the care for these children, the Congenital Zika Virus Bladder and Bowel Sequelae Network (RASZ in Brazilian) was created, including six integrated centers in Brazil. This article represents the initial outcome of the efforts by RASZ. OBJECTIVE: To evaluate the prevalence of bladder and bowel dysfunction, cryptorchidism and other urological sequelae related to CZS in cohorts attended in six Brazilian states. STUDY DESIGN: Observational, prospective, multicenter study including children with CZS assisted in one of six RASZ collaborative centers between June 2016 and February 2023. Data were collected from patient's first assessment using the same protocols for urological and bowel evaluation. Categorical variables were analyzed by frequency of occurrence and numerical variables by mean, median, and standard deviation. The study was approved by the Research Ethics Committees of each center, all parents/caregivers provided written informed consent. RESULTS: The study included 414 children aged 2 months to 7 years (mean 2.77 years, SD 1.73), 227 (54.8 %) were male and 140 (33,8 %) referred urological and bowel symptoms on arrival. Prevalence of both urological and bowel sequelae was 66.7 %, 51 % of children aged 4 years and older had urinary incontinence (UI). UTI was confirmed in 23.4 % (two presented toxemia) and among males, 18.1 % had cryptorchidism. Renal ultrasonography, performed in 186 children, was abnormal in 25 (13.4 %), 7 had hydronephrosis. Among the 287 children who performed urodynamics, 283 (98.6 %) were altered: 232 had a lower bladder capacity, 144 a maximum bladder pressure of ≥40 cm H2O, and 127 did not satisfactorily empty their bladder. DISCUSSION: A higher prevalence of NLUTD, neurogenic bowel and cryptorchidism was confirmed in children with CZS. Early diagnosis and appropriate treatment, including a multidisciplinary approach, may reduce the risk of UTIs, UI and kidney damage. A limitation of the study was the inability of children to complete the protocol, specifically urodynamic evaluation, and ultrasonography. In both exams, the percentage of abnormal cases was higher than that expected in the normal population. CONCLUSION: A 66,7 % prevalence of combined urological sequelae and bladder-bowel dysfunction related to CZS was confirmed in patients evaluated in six Brazilian cohorts. The most frequent changes were related to NLUTD, neurogenic bowel, and cryptorchidism. Prevalence may be underestimated due to access restrictions to diagnostic tests.

Epididymal disjunction anomalies in undescended testis - a factor associated with spermatic obstruction

ABSTRACT Background: To analyze the incidence of epididymal anomalies (EAs) associated to spermatic obstruction in patients with undescended testis (UT) according to testicular position and age. Materials and Methods: We studied 87 patients (110 testis) with cryptorchidism and analyzed the presence of EAs correlated with the testicular position, age and patency of the processus vaginalis (PV). To analyze the relations between the testis and epididymis we considered three situations: (a) Normal pattern: the epididymis was attached to the testis at the head and tail and epididymis totally attached to the testis; (b) EAs: when the epididymis was attached to the testis only at the head (Figure-1A) and (c) EAs associated to spermatic obstruction: epididymis was attached to the testis only at the tail (Figure-1B) and when there are no visible connection between testis and epididymis (Figure-1C). We used the Wilcoxon-Mann-Whitney test and the Chi-square test for contingency analysis (p <0.05). Results: The mean age of the patients was 5.18 years (SD=2.867). Of 110 testes analyzed, 14 were abdominal (12.72%); 83 inguinal (75.45%) and 13 suprascrotal (11.81%). Normal relationships between testis and epididymis were observed in 54 patients (62.1%) with no significant differences in relation to the patient's age (p=0.666). Epididymal tail disjunction was observed in 23 patients (26.44%), with no significant differences in relation to age (p=0.59). EAs associated to spermatic obstruction were observed in 16 patients (18.4%), also with no significant differences in relation to age (p=0.684). We did not observe significant correlation between the testis position and the incidence of EAs (p=0.119). We did not observe significant correlations between patency of the PV (64.7%) and incidence of EAs (p=0.742). Conclusions: Epididymal anomalies associated with spermatic obstruction are present in almost 20% of undescended testes, without significant correlation with age, testicular position and patency of the PV. This information needs to be correlated to the infertility risk of this congenital anomaly.

Síndrome de persistencia de los conductos mullerianos: una rara entidad que debe ser conocida / Persistent Müllerian Duct Symdrome: a rare anomaly that must be known

Introducción: El síndrome de persistencia de los conductos müllerianos es un raro trastorno de la diferenciación sexual con menos de 300 casos publicados, que se caracteriza por la presencia en la persona afectada de ambos sistemas reproductores masculino y femenino. Un varón con cariotipo XY fenotípicamente masculino en quien el conducto de Müller (útero, trompas, 2/3 superior de la vagi-na) no sufrió regresión. Caso clínico: Masculino de 14 meses de edad ingresado en el Hospital de Especialidades del Seguro Social para laparoscopía diagnostica por criptorquidia bilateral con testículos no palpables y pene normal. En la laparoscopía se identiicó trompas, útero y 2/3 superior de la vagina. Además, se tomó biopsia de ambas gónadas que conirmó presencia de tejido testicular normal para la edad. Con estos datos se programa para orquidopexia bilateral más histerectomía, colpectomía y salpingectomía bilateral. Es controlado en consulta externa de endocrinología y cirugía con evolución normal. Conclusiones: El síndrome de persistencia de los conductos mül-lerianos es muy raro debe sospecharse en masculinos con criptorquidia bilateral con testículos no palpables y pene normal. El abordaje inicial debe ser laparoscopía diagnóstica con toma de biopsia de ambas gónadas y luego en la segunda intervención ya con el reporte de patología proceder a la orquidopexia bilateral más la remoción de los elementos del conducto de Müller...(AU)

Do retractile testes have anatomical anomalies?

ABSTRACT Objectives: To assess the incidence of anatomical anomalies in patients with retractile testis. Materials and Methods: We studied prospectively 20 patients (28 testes) with truly retractile testis and compared them with 25 human fetuses (50 testes) with testis in scrotal position. We analyzed the relations among the testis, epididymis and patency of the processus vaginalis (PV). To analyze the relations between the testis and epididymis, we used a previous classification according to epididymis attachment to the testis and the presence of epididymis atresia. To analyze the structure of the PV, we considered two situations: obliteration of the PV and patency of the PV. We used the Chi-square test for contingency analysis of the populations under study (p <0.05). Results: The fetuses ranged in age from 26 to 35 weeks post-conception (WPC) and the 20 patients with retractile testis ranged in ages from 1 to 12 years (average of 5.8). Of the 50 fetal testes, we observed complete patency of the PV in 2 cases (4%) and epididymal anomalies (EAs) in 1 testis (2%). Of the 28 retractile testes, we observed patency of the PV in 6 cases (21.4%) and EA in 4 (14.28%). When we compared the incidence of EAs and PV patency we observed a significantly higher prevalence of these anomalies in retractile testes (p=0.0116). Conclusions: Retractile testis is not a normal variant with a significant risk of patent processus vaginalis and epididymal anomalies.

Why are mini-implants lost: The value of the implantation technique!

The use of mini-implants have made a major contribution to orthodontic treatment. Demand has aroused scientific curiosity about implant placement procedures and techniques. However, the reasons for instability have not yet been made totally clear. The aim of this article is to establish a relationship between implant placement technique and mini-implant success rates by means of examining the following hypotheses: 1) Sites of poor alveolar bone and little space between roots lead to inadequate implant placement; 2) Different sites require mini-implants of different sizes! Implant size should respect alveolar bone diameter; 3) Properly determining mini-implant placement site provides ease for implant placement and contributes to stability; 4) The more precise the lancing procedures, the better the implant placement technique; 5) Self-drilling does not mean higher pressures; 6) Knowing where implant placement should end decreases the risk of complications and mini-implant loss.

O uso de mini-implantes trouxe grandes contribuições ao tratamento ortodôntico. Essa demanda gerou curiosidade científica sobre os procedimentos e técnicas de implantação. Entretanto, instabilidades desses dispositivos ocorrem por motivos ainda não totalmente esclarecidos. Objetiva-se, com esse trabalho, relacionar a técnica de implantação com a taxa de sucesso dos mini-implantes por meio das seguintes hipóteses: 1) áreas com osso alveolar pobre e com pouco espaço inter-radicular levam à inadequada implantação; 2) diferentes áreas requerem distintos tamanhos de mini-implantes! O tamanho do implante deve acompanhar o diâmetro do osso alveolar; 3) a correta determinação do local em que será colocado o mini-implante facilita a instalação e contribui para a estabilidade; 4) quanto mais precisa for a lancetagem, melhor será a técnica de implantação; 5) autoperfuração não significa alta pressão; 6) saber onde finalizar a implantação diminui a incidência de complicações e de perda dos mini-implantes.

A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report / Caso raro de hamartoma perineal associado a criptorquidia e ânus imperfurado: relato de caso

A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature, bilateral congenital clubfoot, hipospadic urethra, criptorquidy bilateral with nonpalpable testis and imperforate anus. A colostomy was constructed immediately after birth. The child underwent excision of perineal mass, bilateral orchidopexy, Duplay neourethroplasty and coloanal anastomosis at 3 months of age. The histopathological examination of the perineal mass revealed a hamartoma.

Recém-nascido a termo do sexo masculino encaminhado ao nosso serviço por anomalia anorretal e anomalias perineais externas. O exame físico revelou massa perineal epitelizada, com orifícios cutâneos que apresentavam saída de urina, musculatura perineal hipotrófica, pé torto congênito bilateral, uretra hipospádica, criptorquidia bilateral com testículos não palpáveis e ânus imperfurado. Logo após o nascimento, o paciente foi submetido à colostomia. Aos 3 meses de idade, a criança foi submetida à excisão da massa perineal, orquidopexia bilateral, neouretroplastia a Duplay e anastomose coloanal. A análise anatomopatológica da massa perineal indicou hamartoma.

Clinical importance and prevalence of testicular microlithiasis in pediatric patients / Importância clínica e prevalência de microlititíase testicular em pacientes pediátricos

PURPOSE: To evaluate the prevalence of testicular microlithiasis among pediatric patients with inguinoscrotal affections. METHODS: Between January 2005 and January 2010, we evaluated, prospectively 1504 children ranging from 1 to 15 years with inguinoscrotal affections with a high-frequency ultrasound system, which employs a 10-MHz transducer. RESULTS: Testicular microlithiasis was identified in 20 testes of eleven children (0.71 percent of 1504 patients evaluated), through an ultrasound scan. Testicular microlithiasis was found in 5 children with cryptorchidism (3.93 percent of 127 patients), 4 children with retractile testes (14.8 percent of 27 patients), 1 child with a hypotrophic testis (100 percent of 1 patient), and 1 child with inguinal hernia (0.07 percent of 1349 patients). The children with testicular microlithiasis were submitted to annual physical examinations and ultrasound evaluations. CONCLUSIONS: Testicular microlithiasis was a rare condition and occurred in 0.7 percent of the subjects studied. The association with cryptorchidism, retractile and hypotrophic testis was significant.

OBJETIVO: Avaliar a prevalência de microlitíase testicular entre pacientes pediátricos com afecções inguinoescrotais. MÉTODOS: Estudo prospectivo entre janeiro de 2005 a janeiro de 2010, utilizando ultrasonografia escrotal em 1504 crianças (de 1 a 15 anos) com afecções inguinoescrotais. RESULTADOS: Microlitíase testicular foi identificada em 20 testículos de 11 crianças (0,71 por cento dos 1504 pacientes). 5 crianças com criptorquidia (3,93 por cento de 127 pacientes), 4 com testículo retrátil (14,8 por cento de 27 pacientes), 1 com hipotrofia testicular e 1 com hérnia inguinal (0,07 por cento de 1349 crianças). As crianças foram avaliadas anualmente com exame físico e ultrassonografia inguinoescrotal. CONCLUSÕES: A microlitíase testicular é uma entidade rara, ocorrendo em 0,7 por cento dos pacientes pediátricos com afecções inguinoescrotais. A associação com a criptorquidia, testículo retrátil e a hipotrofia testicular foi significativa.

Infertilidad masculina / Male infertility

Se estima que aproximadamente un 15 por ciento de las parejas son incapaces de concebir luego de un año de relaciones sexuales no protegidas; 30 por ciento son debidas a factor femenino y 30 por ciento a factor masculino. El 40 por ciento restante es de causa mixta. La evaluación inicial de rutina en el varón (que incluye una detallada historia clínica, examen físico y test básicos como perfil hormonal y análisis seminal) es por lo tanto esencial para la mejoría de su fertilidad. El varicocele, criptorquidia no tratada y las infecciones del tracto urogenital son las causas identificables más frecuentes de infertilidad masculina. Causas menos frecuentes son las disfunciones sexuales, trastornos endocrinos y efectos adversos de medicamentos. Los tratamientos para estas patologías han sido efectivos en la mayoría de los casos, permitiendo a un importante número de parejas concebir en forma espontánea. Si esto no es posible, las parejas pueden recurrir a técnicas de reproducción asistida de baja complejidad, tales como la Inseminación Intrauterina. Y sólo en aquellos casos con problemas más severos recurriremos a técnicas de reproducción de alta complejidad como por ejemplo el ICSI (Inyección Intracitoplasmática de Espermatozoides). Importantes progresos en el área de la Microcirugía permiten no sólo reparar la vía seminal en muchos casos, sino también recuperar espermatozoides de pacientes con atrofia testicular. En los últimos años, junto con el ICSI, han sido una importante contribución.

It is estimated that approximately 15 percent of couples are unable to conceive after one year of contraceptive-free intercourse; 30 percent of which are due to female factors and 30 percent to malefactors. The remaining 40 percent are due to both partners. A routine initial evaluation of the male partner (including detailed medical history, physical exam and basic tests such as hormonal profile and semen analysis) is therefore essential, for improvement of their fertility. Varicocele, untreated Cryptorquidism, infections (eg. epididymitis, orquitis, prostatitis and vesiculitis, most of which are related with sexually transmitted diseases) are the most frequent causes of male infertility. Other minor causes include sexual dysfunctions, drug adverse effects, exposure to radiationor contaminants, endocrine and genetic factors. Treatment for this condition has been effective in most cases, allowing a significant proportion of couples to conceive spontaneously. Whenever this is not possible, patients may resort to low complexity techniques such as artificial insemination, and only in more severe cases, to advanced assisted reproduction techniques such as In Vitro Fertilization (IVF) and in particular Intracytoplasmic Sperm injection (ICSI).Microsurgery has also progressed. Not only used to repair the seminal path when obstructed, but also to recover sperm from patients with testicular atrophy. In recent years, these techniques, together with ICSI, have made an important therapeutic contribution.

Successful treatment of unilateral cryptorchid boys risking infertility with LH-RH analogue

INTRODUCTION: Infertility is the primary concern for boys with uni- or bilateral undescended testes. An early and seemingly successful orchiopexy does not improve fertility in a substantial number of cryptorchid males. We confirmed that LH-RH analogue (LH-RHa) treatment induces an increase in and maturation of the germ cells; however, it was uncertain if treatment would improve the chance of fertility later in life. MATERIALS AND METHODS: Thirty unilateral cryptorchid boys, with an average age of 3 years at the time of surgery, were included in the study. Testicular biopsy showed that they had impaired testicular maturation and were therefore at high risk for infertility. Fifteen of the 30 unilateral cryptorchid boys were treated with 10 µg LH-RHa (Buserelin) nasal spray, administered on alternate days for a period of 6 months, following orchiopexy. The control group consisted of 15 cryptorchid boys who had been treated by Schoemakers type of orchiopexy, alone. After puberty, the ejaculates of both groups were analyzed. RESULTS: All males in the untreated group were severely oligospermic, with 20 percent being azoospermic. In contrast, 86 percent of the treated ex-cryptorchid males had a sperm concentration within the normal range; this was significantly different from the sperm concentration found in the untreated group (p = 0.000008). CONCLUSION: For the first time, we demonstrate that infertility in cryptorchidism can be successfully corrected when suitably treated with a LH-RHa. Sperm parameters normalized following therapy in the majority of cryptorchid males who, untreated, would have remained infertile. This innovative hormonal treatment will have a profound effect on the current recommended surgical treatment of boys with undescended testes.

Relevance of herniography for accurate diagnosis of patent processus vaginalis in cryptorchidism

OBJECTIVE: To clarify the role of peritoneography in assessing the patency of processus vaginalis (PV) in pediatric patients diagnosed with cryptorchidism. MATERIALS AND METHODS: We designed a prospective clinical trial to evaluate the patency of PV in boys presenting cryptorchidism. Herniography was performed in 310 prepubertal boys. Data about the morphology of PV was compared with operative findings in those surgically treated patients. Retractile and ectopic testes were excluded from the study. RESULTS: Of the 376 undescended testes (310 patients), 281 cases were associated with an obliterated PV. Herniography revealed 95 cases of open PV in cryptorchid boys. The 244 normally descended testes had associated patent processus vaginalis in only 31 cases. CONCLUSIONS: Herniography is the most relevant procedure for accurate diagnosis of persistent PV. The persistence of PV was significantly more frequent when the position of the testes is more cranial. The incidence of an open PV decreases with age.