| 11. |
- Nordenvall, Anna Skarin, et al.
(författare)
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Hypospadias as a novel feature in spinal bulbar muscle atrophy
- 2016
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Ingår i: Journal of Neurology. - Stockholm : Karolinska Institutet, Dept of Medical Epidemiology and Biostatistics. - 0340-5354 .- 1432-1459.
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Tidskriftsartikel (refereegranskat)abstract
- Spinal and bulbar muscle atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG repeat expansions in the androgen receptor (AR) gene. The SBMA phenotype consists of slowly progressive neuromuscular symptoms and undermasculinization features as the result of malfunction of the AR. The latter mainly includes gynecomastia and infertility. Hypospadias is also a feature of undermasculinization with an underdeveloped urethra and penis; it has not been described as part of the SBMA phenotype but has been suggested to be associated with a prolonged CAG repeat in the AR gene. This study includes the first epidemiologic description of the co-occurrence of hypospadias and SBMA in subjects and their male relatives in Swedish population-based health registers, as well as an additional clinical case. One boy with severe hypospadias was screened for mutations in the AR gene and was found to have 42 CAG repeats in it, which is in the full range of mutations causing SBMA later in life. We also detected a maximum of four cases displaying the combination of SBMA and hypospadias in our national register databases. This is the third case report with hypospadias in association with CAG repeat expansions in the AR gene in the full range known to cause SBMA later in life. Our findings suggest that hypospadias may be an under diagnosed feature of the SBMA phenotype and we propose that neurologists working with SBMA further investigate and report the true prevalence of hypospadias among patients with SBMA.
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| 12. |
- Ortqvist, Lisa, et al.
(författare)
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Longterm followup of adult men born with hypospadias: Urological and cosmetic results. : Long-Term Followup of Men Born with Hypospadias: Urological and Cosmetic Results
- 2015
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Ingår i: The Journal of urology. - : Ovid Technologies (Wolters Kluwer Health). - 1527-3792 .- 0022-5347. ; 193:3, s. 975-982
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: We present data on long-term functional and cosmetic results after hypospadias surgery. MATERIALS AND METHODS: Males older than 18 years with hypospadias treated in Sweden were asked to participate in the study, as well as age matched controls and circumcised men. All participants answered questionnaires, and a subgroup was examined during an outpatient visit. Relationships with outcome were analyzed using analysis of variance and regression analysis. RESULTS: A total of 167 patients with a mean age of 34 years and 169 controls with a mean age of 33 years answered the questionnaire. Of the patients 63% had distal, 24% mid and 13% proximal hypospadias. A total of 46 patients and 49 controls presented for physical examination. Patients were significantly less satisfied with the penile cosmetic outcome regarding all parameters of the Penile Perception Score. There was a difference in penile length between patients and controls (mean 9.7 vs 11.6 cm, p <0.001). More patients than controls reported voiding dysfunction symptoms (p = 0.003). Patients had a lower maximum urinary flow rate than controls (p = 0.001). These differences were most prominent between patients with proximal hypospadias and controls. CONCLUSIONS: Men operated on for hypospadias were less satisfied with the cosmetic result than controls, and had a shorter penile length. Patients presented with more symptoms of voiding dysfunction and displayed a lower maximum urinary flow rate. Patients with proximal hypospadias were more affected than those with milder hypospadias. Our results indicate that patients with hypospadias can be subgrouped and that those with severe phenotypes should be followed more closely during childhood as well as later in adulthood.
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| 13. |
- Strandqvist, Anna, et al.
(författare)
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Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia : epidemiological studies in a nonbiased national cohort in Sweden
- 2014
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Ingår i: The Journal of Clinical Endocrinology & Metabolism. - Stockholm : Karolinska Institutet, Dept of Medical Epidemiology and Biostatistics. - 0021-972X .- 1945-7197.
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Tidskriftsartikel (refereegranskat)abstract
- Context: Congenital adrenal hyperplasia (CAH), CYP21A2 deficiency, results in cortisol and aldosterone deficiency and increased production of androgens, with a good genotype phenotype correlation. Objective: To study psychosocial outcomes in relation to clinical severity, CYP21A2 genotype, in men and women. Design: An epidemiological study with a matched cohort control design. Setting: All known CAH patients in Sweden. Participants: 588 patients, >95% with known severity of CAH; 100 controls per patient matched for sex, year and place of birth. Main outcome and measures: Proxies for quality of life were selected: level of education, employment, income, sick-leave, disability pension, marriage and children. Results: Women with salt-wasting (SW) CAH had completed primary education less often (OR 0.3), not explained by neonatal salt-crisis or hypoglycemia since the men did not differ from controls. Men and women in the less severe I172N genotype group were more likely to have an academic education (OR 1.8) SW women were more likely to have an income in the top 20 percentile (OR 2.0 ). Both men and women had more disability pension (OR 1.5) and sick leave (OR 1.7). The men more often had long lasting employment (OR 3.1). Men were more often (OR 1.6) while women were less often married (OR 0.7). Patients had children less often (OR 0.3). Conclusions: This study shows important outcome differences regarding education, employment, marriage and fertility depending on sex and severity of CAH. The mechanisms behind this and the increased risk for sick leave or disability pension in both men and women should be identified to improve medical and psychological care.
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