| 1. |
- Borg, Helena, et al.
(författare)
-
Impact of spinal cord malformation on bladder function in children with anorectal malformations.
- 2009
-
Ingår i: Journal of pediatric surgery. - : Elsevier BV. - 1531-5037 .- 0022-3468. ; 44:9, s. 1778-85
-
Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Risk factors for the presence of neurogenic bladder dysfunction (NBD) in children born with high anorectal malformations (ARMs), were investigated, to identify the need for urodynamics in these patients. MATERIAL AND METHODS: The study included 37 patients with high ARMs (21 boys and 16 girls). Bladder function was evaluated with urodynamics both before and after anorectoplasty (posterior sagittal anorectoplasty [PSARP]). All patients were investigated with spinal radiograph. Spinal ultrasound was performed in the neonatal period, and magnetic resonance imaging was added in case of abnormal ultrasound or urodynamics and in case of cloacal malformation. RESULTS: In ARM patients with rectourethral and vestibular fistulas and cloacas, NBD was identified in 9 children (25%). The bladder dysfunction was innate in all cases except in one girl with cloaca, indicating that the risk of iatrogenic denervation seems minimal using the PSARP technique. All children with innate NBD had a spinal cord malformation either as spinal cord regression or tethering with or without a lipoma. Concerning vertebral status, almost all children with NBD had partial sacral agenesis. Abnormal perineal appearance was highly correlated to NBD in boys, especially in those with a spinal cord regression malformation. Innate NBD was not found in any child with normal spinal cord. CONCLUSION: From these results, we suggest that spinal ultrasound and perineal inspection are used as screening procedures for NBD in children with ARM. Urodynamic investigation is recommended only when spinal cord anomalies or other signs indicative of NBD are present. In case of spinal cord malformation, repeated urodynamics during follow-up is mandatory because of the risk for developing tethered cord syndrome.
|
|
| 2. |
- Falhammar, H, et al.
(författare)
-
Fractures and Bone Mineral Density in Adult Women with 21-Hydroxylase Deficiency.
- 2007
-
Ingår i: J Endocrinol Metab. - : The Endocrine Society. - 0021-972X .- 1945-7197.
-
Tidskriftsartikel (refereegranskat)abstract
- Context: Patients with classic congenital adrenal hyperplasia (CAH) receive lifelong, often supraphysiological, glucocorticoid therapy. Pharmacologic doses of glucocorticoids are an established risk factor for osteoporosis. Objectives: To evaluate bone mineral density (BMD), fracture prevalence and markers of bone metabolism in adult females with CAH. Design: This was a cross-sectional observational study. Setting: Tertiary care referral centers. Participants: We studied 61 women, aged 18-63 years, with genetically verified CAH due to 21-hydroxylase deficiency. They were patients with salt-wasting (n = 27), simple virilising (n = 28) and non-classic 21-hydroxylase deficiency (n = 6). Sixty-one age-matched women were controls. Main outcome measures: History of fractures was recorded. Total body, lumbar spine and femoral neck BMD were measured by dual-energy X-ray absorptiometry. The WHO criteria for osteopenia and osteoporosis were used. Serum marker of bone resorption, beta-C telopeptide (CTX) was studied. Results: The mean glucocorticoid dose in hydrocortisone equivalents was 16.9 +/- 0.9 mg/m(2). Patients had lower BMD than controls at all measured sites (P < 0.001). In patients < 30 years old 48% were osteopenic vs 12% in controls (P < 0.009). In patients >/= 30 years old 73% were osteopenic or osteoporotic vs 21% in controls (P < 0.001). BMD was similar in the two classic forms and had no obvious relationship to genotypes. CTX was decreased in older patients. More fractures were reported in patients than controls (P < 0.001). The number of vertebrae and wrist fractures almost reached significance (P = 0.058). Conclusion: Women with CAH have low BMD and increased fracture risk. BMD should be monitored, adequate prophylaxis and treatment instituted, and glucocorticoid doses optimized from puberty.
|
|
| 3. |
- Falhammar, Henrik, et al.
(författare)
-
Increased liver enzymes in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- 2009
-
Ingår i: Endocrine journal. - 1348-4540. ; 56:4, s. 601-8
-
Tidskriftsartikel (refereegranskat)abstract
- The aims were assessing liver function tests (LFT) in women with congenital adrenal hyperplasia (CAH) on glucocorticoids. Sixty-one women with genetically verified CAH due to 21-hydroxylase deficiency, aged 18-63 years were compared to 61 controls. Serum alkaline phosphatase (ALP), alanine aminotransferase (ALT), aspartate aminotransferase (AST) and gamma-glutamyl transpeptidase (GGT), anthropometry and fat mass (dual energy X-ray absorptiometry) were measured. ALT and GGT were higher in the entire patient group (p=0.01 and 0.002); AST, GGT and ALP in patients > or =30 years (p=0.007-0.045); all LFT in salt-wasting (p<0.001-0.042); GGT in simple virilizing (p=0.008); ALT, GGT and ALP in Null/Null genotype (p=0.018-0.040); ALT and GGT in I2splice genotype (p<0.001 and 0.011). Using a recently proposed cut-off level for ALT (>0.317 microkat/L), 54% of patients vs 23% of controls had elevated levels (p=0.028). In patients, GGT and ALP correlated with waist circumference and with total body and trunk fat (r=0.274-0.406, p=0.001-0.043). However, ALT, GGT and ALP were increased even in non-obese patients (waist circumference < or =88 cm and body mass index <30 kg/m(2)) (p=0.012-0.045) mainly attributed to the patients > or =30 years who also demonstrated elevated insulin levels and HOMA-indices. In conclusion, compared with controls, women with CAH have higher LFT, in particular patients > or =30 years and those with severe forms, probably reflecting a higher lifetime glucocorticoid exposure. LFT were positively correlated to measurements of body fat. These women might have increased frequency of NAFLD. The finding of higher LFT also in non-obese patients suggests that not only central obesity but also glucocorticoids per se may influence.
|
|
| 4. |
- Falhammar, Henrik, et al.
(författare)
-
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
- 2007
-
Ingår i: The Journal of clinical endocrinology and metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 92:1, s. 110-6
-
Tidskriftsartikel (refereegranskat)abstract
- CONTEXT: The chronic, often supraphysiological glucocorticoid doses used in congenital adrenal hyperplasia (CAH) might increase morbidity in cardiovascular disease and diabetes. OBJECTIVE: Our aim was to assess risk factors for cardiovascular disease and diabetes in CAH women. SUBJECTS, METHODS, AND DESIGN: We compared 61 women, 18-63 yr, with CAH due to 21-hydroxylase deficiency with 61 age- and sex- matched controls. Twenty-seven were younger than 30 yr, and 34 were 30 yr or older. Anthropometry, fat and lean mass measured by dual-energy x-ray absorptiometry, serum lipids, insulin, and adrenocortical steroids were studied. MAIN OUTCOME MEASURE: Body composition and cardiovascular risk factors were the main outcome measures. RESULTS: Younger patients and controls had similar waist to hip ratio, lean and fat mass, and insulin. Older patients had higher waist to hip ratio, lean mass, and insulin than controls. Fat mass was similar to controls but higher than in younger patients. Lipid profiles were slightly more favorable in older patients than controls. Gestational diabetes was more common in patients (21% of pregnancies vs. 0, P < 0.026). Few older patients had hypertension, cardiovascular disease, or diabetes. Despite moderate glucocorticoid doses, most patients had suppressed androgens. CONCLUSIONS: No clear evidence of unfavorable cardiovascular risk factors were found. Increased fat mass and higher insulin levels were, however, found in patients older than 30 yr. High frequency of gestational diabetes is a risk marker for future diabetes. Lifelong follow-up, lifestyle modifications, and attempts to adjust and reduce the glucocorticoid doses seem important.
|
|
| 5. |
- Frisén, Lars, et al.
(författare)
-
Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency
- 2009
-
Ingår i: J Clin Endocrinol Metab. - : The Endocrine Society. ; 94:9, s. 3432-9
-
Tidskriftsartikel (refereegranskat)abstract
- CONTEXT: Gender-atypical behavior has been described in young girls as well as in women with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency. OBJECTIVE: The aim of the study was to assess health-related, psychosexual, and psychosocial parameters and correlate the results to CYP21A2 genotype. DESIGN AND PARTICIPANTS: Sixty-two Swedish women with CAH and age-matched controls completed a 120-item questionnaire and a validated quality of life instrument [psychological general well-being (PGWB) formula] to identify psychosexual and psychosocial parameters. The patients were divided into four CYP21A2 genotype groups. RESULTS: The women with CAH held more male-dominant occupations (30%) compared to controls (13%) (P = 0.04), especially those in the null genotype group (55%) (P = 0.006). They also reported a greater interest in rough sports (74%) compared to controls (50%) (P = 0.007). Eight women with CAH (14%) reported a prime interest in motor vehicles, compared to none of the controls (P = 0.002). Non-heterosexual orientation was reported by 19% of women with CAH (P = 0.005), 50% in the null genotype group (P = 0.0001), 30% in I2 splice (NS), and 5% in I172N (NS). PGWB total score did not differ between patients and controls. CONCLUSION: We identified increased gender-atypical behavior in women with CAH that could be correlated to the CYP21A2 genotype. This speaks in favor of dose-dependent effects of prenatal androgens on the development of higher brain functions. The impact of the disease on upbringing and interpersonal relationships did not correlate with disease severity, indicating that other factors, such as coping strategies, are important for psychosocial adaptation. This illustrates the need for psychological support to parents and patients.
|
|
| 6. |
|
|
| 7. |
- Hellström, Anna-Lena, 1946, et al.
(författare)
-
Feeling good in daily life: from the point of view of boys with posterior urethral valves
- 2006
-
Ingår i: J Urol. - 0022-5347. ; 176:4 Pt 2, s. 1742-6
-
Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: We determined what is important to feel good in daily life when living with a long-term illness that requires daily treatment routines. MATERIALS AND METHODS: Seven boys between 6 and 16 years old who were born with posterior urethral valves narrated their experiences with daily life. They were on clean intermittent catheterization, had impaired renal function and 2 had undergone transplantation. RESULTS: Being involved in decisions about themselves was important, as was having their own doctor and nurse. Friends were important. Clean intermittent catheterization was something that worried them in relation to friends and made them feel uncertain about how they would react to it. The boys accepted the catheterization procedure as something that had to be done but they needed strategies to be able to comply. A single event, such as no available toilet, was enough to interrupt treatment. CONCLUSIONS: In these boys prescribed treatment was a surprisingly small part of their lives. The clean intermittent catheterization routine was sometimes experienced as an obstacle in company with friends. The new challenge might be to achieve compliance with the treatment routine in daily life in a long-term perspective.
|
|
| 8. |
- Hjälmås, Kelm, 1933, et al.
(författare)
-
Pediatrisk urologi
- 2005
-
Ingår i: Urologi. - : Studentlitteratur. - 9144028741
-
Bokkapitel (övrigt vetenskapligt/konstnärligt)
|
|
| 9. |
- Holmdahl, Gundela, 1956, et al.
(författare)
-
Boys with posterior urethral valves: outcome concerning renal function, bladder function and paternity at ages 31 to 44 years
- 2005
-
Ingår i: J Urol. - : Ovid Technologies (Wolters Kluwer Health). - 0022-5347. ; 174:3
-
Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: The short-term prognosis for boys with posterior urethral valves (PUV) has improved in recent decades, but the long-term prognosis in terms of renal and bladder function and fertility is still a matter of great concern. This study is a followup of boys with PUV and dilated upper urinary tract treated in 1956 to 1970 at the Children's Hospital in Goteborg, Sweden. MATERIALS AND METHODS: The records of 54 boys treated for PUV were reviewed. Of 27 boys with PUV and upper urinary tract dilation, 5 boys (18%) died at an early age and 3 boys were lost to followup during adolescence, leaving 19 to be included in the followup. They all answered a questionnaire about renal and bladder function and paternity. RESULTS: Of the 19 men 32% were uremic, 21% had moderate renal failure and 47% had not been checked since adolescence. There were signs of bladder dysfunction in 40% and all these subjects had bladder symptoms suggesting detrusor weakness as the cause. All the men were continent. The ability to father children was dependent on whether or not the man was uremic. CONCLUSIONS: This long-term followup study emphasizes the importance of checking renal and bladder function throughout life in men born with PUV. Increasing attention to bladder dysfunction and its early treatment could probably improve the long-term prognosis.
|
|
| 10. |
- Holmdahl, Gundela, 1956, et al.
(författare)
-
Hypospadias repair with tubularized incised plate. Is uroflowmetry necessary postoperatively?
- 2006
-
Ingår i: Journal of pediatric urology. - : Elsevier BV. - 1873-4898 .- 1477-5131. ; 2:4, s. 304-7
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: Hypospadias repair with tubularized incised plate urethroplasty (TIP) produces good cosmesis, but is reported to result in a change in urinary stream postoperatively, with an obstructive pattern. The aim of this retrospective study was to determine whether early uroflowmetry is a good method for diagnosing neourethral stricture. PATIENTS AND METHOD: In 126 boys, primary TIP repair was performed between 1999 and 2003. Uroflowmetry was performed in potty-trained boys 2 months' postoperatively (68 boys) and both 2 and 12 months (38 boys) after TIP. Boys with obstructed flow and/or clinical symptoms were calibrated in their neourethra. RESULTS: Forty-nine percent of the boys with distal hypospadias and 87% of the proximal cases had a flow rate of less than 10 ml/s at uroflowmetry 2 months after TIP, but only 12/126 boys (10%) were considered to have a neourethral stricture. There was a spontaneous increase in maximum flow rate between 2 and 12 months after TIP repair both in patients who had been calibrated and in boys in whom no intervention had been performed. CONCLUSION: Early uroflowmetry appears to be unnecessary, as the voiding history appears to be just as good at alerting a suspicion of urethral stricture after TIP repair. There is a spontaneous normalization of the urinary flow in boys after TIP repair, but the need for long-term follow up beyond puberty is great, especially in cases of proximal hypospadias.
|
|
