Genitoplasty in newborn females with adrenogenital syndrome : focus on the reconstruction technique and its outcomes

The adrenogenital syndrome is an autosomal recessive disorder in which an enzyme defect in the steroid pathway leads to excessive prenatal exposure of androgens. In the female fetus, masculinization of the external genitalia is observed. Surgery aims for functional and aesthetical reconstruction. Many techniques have been described. A video of our modified pull-through reconstruction technique is hereby presented. A retrospective descriptive database was created with patients who underwent genitoplasty for a CAH-associated genital condition. A video demonstrating the reconstructive technique was recorded while operating on a 9-month-old girl. Prior to surgery a cystoscopy is performed to evaluate the length of the urogenital sinus. Surgery starts with creating a reversed U-flap, after which the urogenital sinus is mobilized. The corpora cavernosa are released and the neurovascular bundle is isolated. To create vaginal space the urogenital sinus is subsequently separated. The vaginal introitus is anchored to the perineal skin flap. Labia minora are created by splitting the preputial skin. Finally excessive skin tissue is resected. Twenty-two female patients underwent reconstructive surgery for the adrenogenital syndrome in a tertiary referral centre over 16 years. Median age at surgery was 3 months (0-190). Median follow-up was 36 months (0-108) after surgery. A good functional and aesthetical outcome was observed. The modified pull-through technique, illustrated by this video, provided satisfactory results with a low complication rate. Follow-up until adulthood is needed to evaluate long-term outcomes

Circadian rhythm of water diuresis and salt excretion in treatment naïve children with nocturnal polyuria and the influence on desmopressin response

Nocturnal enuresis is caused by a mismatch between nocturnal diuresis and functional bladder volume. Nocturnal polyuria (nocturnal diuresis > 130% of the expected bladder capacity for age, by ICCS definition) is a known pathophysiological mechanism of bedwetting. Other comorbidities such as constipation, mental health problems, and sleep disorders may play a role in prognosis and/or therapy response. In the prospective study (B670201212) we investigated the correlation of different sleep parameters and neuropsychological findings with specific enuresis characteristics and response to desmopressin treatment in children with nocturnal polyuria. The children participating in this study underwent polysomnography and had a 24-hour urine concentration profile before and 6 months after starting desmopressin. The primary research questions have since been published. Recently, there are indications that, but by analogy with nocturia in adults, not only water diuresis but also disturbed circadian rhythm of osmotic excretion play a role, but especially in treatment-resistant enuresis: The existing database offers the possibility to assess the importance of these factors. evaluate without having to re-study patients Our aim is to perform a post-hoc analysis on the existing anonymized database of the above study, in which we wish to analyze data (urine volumes, electrolytes, osmolarity, creatinine), to determine the renal circadian rhythm of water diuresis and salt and osmotic excretion analyze. In addition, the correlation with nocturnal polyuria and desmopressin response will also be investigated

Dietary considerations in the evaluation and management of nocturia

Aim: This narrative review investigates the effect of dietary intake on nocturnal voiding severity. The primary aims of this review are to provide a framework for future research and ultimately contribute to more comprehensive, lifestyle-centered guidelines for the management of nocturia. Methods: A literature search was conducted in Web of Science, PubMed, and Google Scholar databases using the keywords “nocturia”, “diuresis”, “natriuresis”, “food”, “diet”, and “nutrients”. Results: High fruit and vegetable consumption was negatively associated with nocturia. High intake of tea and dietary sodium showed a positive association with nocturia. Several foods have also been directly linked to changes in diuresis rate, glycemic control, and endogenous serum melatonin concentration, offering potential mechanisms for this observed effect. Overall quality of the evidence was low. Conclusion: At present, there is limited evidence to suggest that certain foods, electrolytes, and specific compounds may contribute to the pathogenesis of nocturia. A greater understanding of the impact of food and nutrients on body fluid metabolism is needed to further refine the evaluation and treatment of nocturia

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development

Background: One in 4500 children is born with ambiguous genitalia, milder phenotypes occur in one in 300 newborns. Conventional time-consuming hormonal and genetic work-up provides a genetic diagnosis in around 20-40% of 46, XY cases with ambiguous genitalia. All others remain without a definitive diagnosis. The investigation of milder cases, as suggested by recent reports remains controversial. Methods: Integrated clinical, hormonal and genetic screening was performed in a sequential series of 46, XY children, sex-assigned male, who were referred to our pediatric endocrine service for atypical genitalia (2007-2013). Results: A consecutive cohort of undervirilized 46, XY children with external masculinization score (EMS) 2-12, was extensively investigated. In four patients, a clinical diagnosis of Kallmann syndrome or Mowat-Wilson syndrome was made and genetically supported in 2/3 and 1/1 cases respectively. Hormonal data were suggestive of a (dihydro) testosterone biosynthesis disorder in four cases, however no HSD17B3 or SRD5A2 mutations were found. Array-CGH revealed a causal structural variation in 2/6 syndromic patients. In addition, three novel NR5A1 mutations were found in non-syndromic patients. Interestingly, one mutation was present in a fertile male, underlining the inter-and intrafamilial phenotypic variability of NR5A1-associated phenotypes. No AR, SRY or WT1 mutations were identified. Conclusion: Overall, a genetic diagnosis could be established in 19% of non-syndromic and 33% of syndromic cases. There is no difference in diagnostic yield between patients with more or less pronounced phenotypes, as expressed by the external masculinisation score (EMS). The clinical utility of array-CGH is high in syndromic cases. Finally, a sequential gene-by-gene approach is time-consuming, expensive and inefficient. Given the low yield and high expense of Sanger sequencing, we anticipate that massively parallel sequencing of gene panels and whole exome sequencing hold promise for genetic diagnosis of 46, XY DSD boys with an undervirilized phenotype

Focus op underactive bladder - een kindgerichte aanpak

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