Testicular adrenal rest tumors - Epidemiology, diagnosis and treatment.

INTRODUCTION: Testicular adrenal rest tumors (TART) are common in males suffering from congenital adrenal hyperplasia (CAH). Correct and timely diagnosis is important for differential diagnosis with malignant testis tumors, related infertility and as TART may worsen in time, especially in the absence of adequate and continuous hormonal control. The rarity of the disease, predominance of small cohorts and case reports and research heterogeneity (concerning type of CAH, patients' age and specific focus of the paper) complicate the understanding of this condition. OBJECTIVES: To review epidemiological and clinical aspects of TART, including treatment and prognosis. METHODS: Non-systematic review of CAH-related TART research. RESULTS: TART's prevalence grows progressively over time, predominating after puberty, affecting a mean of 20-40 % of CAH males. There is no proof of more frequent proportional affection of specific CAH phenotypes or types of enzyme deficiency, but cases of TART among non-classic CAH patients have been rarely reported. Chronic undertreated are more frequently affected and present larger tumors. Systematic ultrasound screening of CAH males is the state-of-the art for diagnosis, but TART are still often diagnosed in CAH adults seeking infertility treatment. TART are usually asymptomatic and present normal testicular volume. Biopsies are not recommended, except when the differential diagnosis between TART and testicular tumors cannot be guaranteed. Abnormal semen analysis is common. Leydig cell tumors are the main differential diagnosis, due to histological similarities to TART. Misdiagnosis may lead to unnecessary orchiectomies. Preservation of gonadal functions is inversely proportional to the total tumor volume. Tumors tend to regress under adequate adrenal suppression with steroids. Surgery in not indicated to treat TART. DISCUSSION: The reported prevalence of TART depends on age, usage of systematic follow-up ultrasound, and adequate CAH control. Timely detection of the disease is important to avoid irreversible gonadal dysfunction (not clinically apparent, due to high serum levels of androgen) and infertility. The relationship between TART and specific CAH phenotypes/genotypes has not been proved, and some cases do not present abnormal serum ACTH levels. Knowledge about TART should be disseminated among non-experts, to avoid unnecessary orchiectomies and false diagnosis of malignant testis tumors. Infertility is frequent, but has not been not satisfactorily addressed by physicians, even among experts. Sperm cryopreservation should be early offered to CAH adult males, but there are offer problems related to high cost.

Bladder exstrophy: We need to improve. A lot.

INTRODUCTION: Bladder exstrophy (BE) affects continence and sexual function, impacting on social life and mental health. Long-term data from the patients' point of view are needed to get a real-life perspective on the problem. STUDY DESIGN: A self-developed questionnaire concerning sexual, psychosexual and psychosocial outcomes was sent to the adult members of the Brazilian Exstrophy Group. RESULTS: Fifty out of 67 adults from the group (74.5%) responded to the questionnaire. Failure of initial bladder closure attained 62%. Almost ¾ of the patients had augmentation cystoplasty. Bladder lithiasis was common. Esthetic procedures were frequently done. Repetitive UTI (n = 32, 64%) and kidney scars/disease (n = 20, 40%) were frequent. Most (88%) patients either depend on CIC or remain incontinent. Sexual problems predominated in males. Surgery for continence often failed, requiring re-operations, but the prognosis without these procedures was comparatively worse. Continent patients underwent more surgeries (mean 18, 13 and 9 procedures in continent, imperfectly continent and incontinent patients, respectively). Augmented patients more frequently achieved dryness (p = 0.0035). Two-thirds of the women underwent vaginoplasties, but dyspareunia/feeling of "tight" vagina still affected a quarter of them. Four women (15.4%) delivered healthy children. 91.7% of the males reported "normal" erections, but sexual inhibition was common due to feeling of having a small penis (n = 18, 75%). Persistent dorsal curvature and abnormal ejaculation were common (58.3% and 77.1%, respectively). Patients' comments related mainly to mental health issues/need for specialized care, limitations of medicine to cure/treat their disease, unavailability of experts, especially adult specialists, embarrassment over deformities and insufficient information about disease/treatment/prognosis. DISCUSSION: Most BE patients are well-integrated into society, but feelings of sadness and low self-esteem are common. Most welcome procedures to become dry, despite self-catheterization. The results of bladder neck reconstruction are far from perfect, despite multiple attempts and bladder augmentation was often necessary. Volitional voiding is uncommon. Sexual problems are worse for males, and sexual avoidance is common. Sexual function and self-image are inter-related. It seems reasonable to offer selective esthetic procedures to improve social/sexual interaction. Obstetric complications are common, especially UTI, need for ureteral and/or conduit stenting, abnormal fetal positioning, uterine prolapse, technical problems during surgical deliveries and prematurity. CONCLUSION: Continence/dryness in BE was mostly eventually achieved, usually depending on multiple interventions, bladder augmentation and self-catheterization. Despite multiple surgeries many adults remain incontinent. Sexual problems and avoidance are the rule in males, due to the feelings of penile inadequacy. Pregnant females deserve expert obstetric care.

Idiopathic hemorrhagic urethritis of childhood.

INTRODUCTION: idiopathic hemorrhagic urethritis of childhood (IHU) is uncommon. Data about the disease are limited. There are no available protocols for diagnosis, treatment, or follow-up and prognostic factors are unknown. OBJECTIVE: We aim to review the available data about IHU, to organize and to synthesize information, to facilitate clinical choices and the establishment of future research protocols. STUDY DESIGN: Descriptive review of the literature. RESULTS: The disease typically affects peri-pubertal boys. A third evolve to chronic disease and circa 15% develop urethral stenoses. Voiding dysfunction is frequent. Acute scrotum secondary to orchiepididymitis may occur. Meatal stenosis and hypospadias are more frequent than in the general population. Diagnosis is clinical (urethrorrhagia ± dysuria). Complementary exams are mostly used for differential diagnosis. Indications for cystoscopy are controversial. Bulbar urethral inflammation with fibrinous "membranes" are typical. Treatment is controversial and mostly expectant. Topical steroids and indwelling catheterization are the most successful for severe or recalcitrant cases (summary table). CONCLUSION: IHU turns into a chronic condition in a significant proportion of the cases and associates to a low quality of life. Urethral stenosis is the most common complication. Indications for diagnostic cystoscopy, prolonged catheterization, and steroid prescription need to be better defined. Clinical protocols are deeply needed.

La verdad está en los detalles. ¿Pueden ser los check-lists una buena idea para ecografía pediátrica de riñón y vejiga? / The truth lies in the details - would check-lists be a good idea forkidney/bladder pediatric ultrasound?

La necesidad de estandarizar los informes de ultrasonido (US) dirigidos a urólogos pediátricos (PU) y medir las dimensiones de las estructuras anatómicas específicas es bien reconocida. Nuestra investigación tiene como objetivo verificar la integridad y precisión de la información contenida en los ultrasonidos de riñón y vejiga (K/B) de los pacientes que acuden a nuestra clínica de referencia de la PU. MÉTODOS: Evaluación prospectiva de los parámetros descriptivos y mensurables de 47 ultrasonografías K / B Pediátrica en un período de 3 meses. Análisis comparativo entre radiólogos pediátricos y generales, enfermedades funcionales contra las enfermedades no funcionales, tipo de institución que lleva a cabo el examen y la solicitud de la ultrasonografía (estandarizado versus rutina). RESULTADOS: Los informes de ultrasonografía consideran una media del 53 por ciento de los posibles parámetros sugeridos y presentaron una media de 53 por ciento de las mediciones precisas cuando aplicable. La única variable que se relacionó de forma independiente para mejores informes fue el uso de las solicitudes normalizadas por la PU (media del 64 por ciento de los posibles parámetros considerados, el 69 por ciento de las mediciones de los parámetros aplicables). La realización del examen por Radiólogos pediátricos (PR) o en los hospitales docentes o en pacientes que sufrían de enfermedades funcionales no fueron determinantes independientes de la calidad de los informes. CONCLUSIÓN: El uso de protocolos específicos y / o listas de verificación sería eficaz para normalizar y obtener una mejor calidad de informe en Ultrasonografía B / K en PU.

The need to standardize ultrasound (US) reports directed to Pediatric Urologists (PU) and to measure the dimensions of specific anatomical structures is well recognized. Our research aims to verify the completeness and precision of the information in kidney and bladder (K/B) US from patients presenting to our referral PU Clinic. METHODS: Prospective evaluation of descriptive and measurable parameters from 47 K/B Pediatric US in a 3-month period. Comparative analysis between pediatric versus general radiologists, functional versus non-functional disease, kind of institution that performed the exam and request for the US (standardized versus routine). RESULTS: The US reports considered a mean of 53 percent of the possible parameters suggested and presented a mean of 53 percent of precise measurements when applicable. The only variable that related independently to better reports was the usage of standardized requests by the PU (mean of 64 percent of the possible parameters considered, 69 percent of measurements of the applicable parameters). Accomplishment of the exam by Pediatric Radiologists (PR), in teaching hospitals or in patients suffering from functional diseases were not independent determinants to the quality of the reports. CONCLUSION: The usage of specific protocols and/or check-lists would be effective to standardize and get better quality B/K US reports in PU.