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Background: Early postnatal administration of gonadotropins to infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty, thereby increasing penile growth. We assessed the effects of gonadotropin infusion on stretched penile length (SPL) and hormone levels in infants with congenital micropenis. Methods: Single-center study including 6 males with micropenis in case of isolated CHH (n = 4), panhypopituitarism (n = 1), and partial androgen insensitivity syndrome (PAIS; n = 1). Patients were evaluated at baseline, monthly and at the end of the study through a clinical examination (SPL, testicular position and size), serum hormone assays (testosterone, luteinizing hormone, follicle-stimulating hormone, inhibin B, anti-Müllerian hormone [AMH]), and ultrasound of penis/testes. Results: In CHH, significant increases occurred in serum testosterone (from undetectable level to 3.5 ± 4.06 ng/mL [12.15 ± 14.09 nmol/L]), SPL (from 13.8 ± 4.5 to 42.6 ± 5 mm; p < 0.0001), inhibin B (from 94.8 ± 74.9 to 469.4 ± 282.5 pg/mL, p = 0.04), and AMH (from 49.6 ± 30.6 to 142 ± 76.5 ng/mL, p = 0.03). Micropenis was corrected in all patients, except one. On treatment, in the patient with PAIS, SPL was increased from 13 to 38 mm. Conclusions: Early gonadotropin infusion is a safe, well-tolerated and effective treatment. The effect in PAIS has not been reported previously. Long-term follow-up is needed to assess the impact, if any, on future fertility and reproduction.

Two kinds of elimination disorders can be associated with Vesico Ureteral Reflux (VUR): pure bladder elimination disorders or combination of bladder and bowel elimination disorders. An elimination disorder is always a factor which worsens the prognosis of VUR, as it increases the risk of infectious complications and thus presents a threat for the upper urinary tract. Regarding pure bladder elimination disorders, a chronic urine residue is observed in four clinical situations: the syndrome megacystis-mega ureter; the mega bladder without mega ureter, but with VUR; high grade massive VUR without a mega bladder; organic obstructions of the urethra (such as posterior urethral valves.). VUR associated with urine and fecal elimination disorders cover functional pelvi perineal dyscoordination, bladder sphincter dysynergia, disturbances of visceral motricity and anal sphincter function. The most characteristic type is represented by the neuropathic detrusor-sphincter dysfunction; also enter in this category neurogenic non-neurogenic bladders (Hinman’s syndrome); However the vast majority of urine and fecal elimination disorders is represented by non neuropathic perineal dyscoordination associating at various degrees: voiding postponement, lack of sphincter relaxation during micturation, interrupted voiding, and constipation. The diagnosis of elimination disorders associated with VUR is based on non invasive investigations such as anamnesis and drinking/voiding chart in children and adolescents, and "four observation test" in infants. Ultrasound and uroflowmetry are also useful tools. Invasive investigations include mainly voiding cystourethrography and urodynamics, ideally combined in video urodynamic studies. The management of urinary and intestinal elimination disorders is based on the prevention of infections, the suppression of the post voiding residual urine and the treatment of an associated constipation. If surgical treatment of VUR is needed, it must be associated to the management of elimination disorders in the peri operative period. In many instances, an appropriate treatment of elimination disorders often leads to the VUR resolution. Dos tipos de trastornos de la excreción pueden asociarse con el reflujo vesicoureteral (RVU): trastornos puros del vaciado vesical o combinaciones del vaciado vesical y la excreción de heces. Un trastorno de la excreción es siempre un factor que empeora el pronóstico del RVU, porque aumenta el riesgo de complicaciones infecciosas y por lo tanto representa una amenaza para el tracto urinario superior. En relación con los trastornos puros del vaciado vesical, se observa un residuo urinario crónico en cuatro situaciones clínicas: el síndrome megavejiga-megauréter, la megavejiga sin megauréter pero con RVU, el RVU de alto grado masivo sin megavejiga, y obstrucciones orgánicas de la uretra (como valvas de uretra posterior). El RVU asociado con trastornos de la excreción urinaria y fecal cubre la descoordinación pelviperineal, la disinergia detrusoesfinteriana, y las alteraciones de la motricidad visceral y de la función del esfínter anal. El tipo más característico está representado por la disfunción detruso-esfinteriana neuropática; también entran en esta categoría las vejigas neurógenas no neurogénicas (síndrome de Hinman); sin embargo la inmensa mayoría de los trastornos de la excreción urinaria y fecal están representadas en la descoordinación perineal no neuropática que se asocia en varios grados: retraso de la micción, falta de relajación del esfínter durante la micción, micción interrumpida y estreñimiento. El diagnóstico de los trastornos de la excreción asociados con RVU se basa en pruebas no invasivas como la anamnesis, los diarios de ingesta líquida y miccionales en niños y adolescentes, y cuatro pruebas de observación en lactantes. La ecografía y la flujometría son también pruebas útiles. Las pruebas invasivas incluyen principalmente la cistouretrogrrafía miccional seriada y el estudio dinámico, idealmente combinadas en los estudios videourodinámicos. El tratamiento de los trastornos de la excreción urinaria e intestinal se basa en la prevención de las infecciones, la supresión del residuo postmiccional y el tratamiento del estreñimiento asociado. Si fuera necesario tratamiento quirúrgico del RVU, debe asociarse con el tratamiento perioperatorio de los trastornos de la excreción. En muchos casos, un tratamiento apropiado de los trastornos de la excreción conduce con frecuencia a la resolución del reflujo vesicoureteral.

Two kinds of elimination disorders can be associated with Vesico Ureteral Reflux (VUR): pure bladder elimination disorders or combination of bladder and bowel elimination disorders. An elimination disorder is always a factor which worsens the prognosis of VUR, as it increases the risk of infectious complications and thus presents a threat for the upper urinary tract. Regarding pure bladder elimination disorders, a chronic urine residue is observed in four clinical situations: the syndrome megacystis-mega ureter; the mega bladder without mega ureter, but with VUR; high grade massive VUR without a mega bladder; organic obstructions of the urethra (such as posterior urethral valves.). VUR associated with urine and fecal elimination disorders cover functional pelvi perineal dyscoordination, bladder sphincter dysynergia, disturbances of visceral motricity and anal sphincter function. The most characteristic type is represented by the neuropathic detrusor-sphincter dysfunction; also enter in this category neurogenic non-neurogenic bladders (Hinman’s syndrome); However the vast majority of urine and fecal elimination disorders is represented by non neuropathic perineal dyscoordination associating at various degrees: voiding postponement, lack of sphincter relaxation during micturation, interrupted voiding, and constipation. The diagnosis of elimination disorders associated with VUR is based on non invasive investigations such as anamnesis and drinking/voiding chart in children and adolescents, and "four observation test" in infants. Ultrasound and uroflowmetry are also useful tools. Invasive investigations include mainly voiding cystourethrography and urodynamics, ideally combined in video urodynamic studies. The management of urinary and intestinal elimination disorders is based on the prevention of infections, the suppression of the post voiding residual urine and the treatment of an associated constipation. If surgical treatment of VUR is needed, it must be associated to the management of elimination disorders in the peri operative period. In many instances, an appropriate treatment of elimination disorders often leads to the VUR resolution.

AIMS: Desmopressin is a useful treatment for primary nocturnal enuresis (PNE), a common childhood condition that can persist into adolescence. This open-label, randomised, cross-over study evaluated the preference of children and adolescents with PNE for sublingual desmopressin oral lyophilisate (MELT) vs. tablet treatment, and the efficacy, safety, compliance and ease of use associated with each formulation. In total, 221 patients aged 5-15 years who were already receiving desmopressin tablets were randomised 1 : 1 to receive desmopressin treatment in the order MELT/tablet (n = 110) or tablet/MELT (n = 111) for 3 weeks each. Each formulation was administered in bioequivalent doses (0.2/0.4 mg tablets identical with 120/240 microg MELT). Following treatment, patients were questioned regarding treatment preference. Diary card data and 100 mm Visual Analogue Scale scores were also recorded. RESULTS: Overall, patients preferred the MELT formulation to the tablet (56% vs. 44%; p = 0.112). This preference was age dependent (p = 0.006); patients aged < 12 years had a statistically significant preference for desmopressin MELT (p = 0.0089). Efficacy was similar for both formulations (MELT: 1.88 +/- 1.94 bedwetting episodes/week; tablet: 1.90 +/- 1.85 episodes/week). Ease of use of both formulations was high. Compliance (> or = 80%) was 94.5% for MELT patients vs. 88.9% for the tablet (p = 0.059). No serious/severe adverse events were reported. CONCLUSIONS: There was an overall preference for the MELT, and a statistically significant preference for desmopressin MELT in children aged 5-11 years. Desmopressin MELT had similar levels of efficacy and safety at lower dosing levels than the tablet, and therefore facilitates early initiation of PNE treatment in children aged 5-6 years. Udgivelsesdato: 2007-Sep