Objectives:The objectives of the study were 2-fold: 1) a detailed description of sexual and reproductive outcomes in adult women with congenital adrenal hyperplasia (CAH) of different phenotypic severity at birth; and 2) comparisons of these outcomes among CAH subtypes and between CAH women and non-CAH control women.Design: This was a cross-sectional study using a face-to-face interview, a written questionnaire, the Female Sexual Function Index, and a gynecological examination. Patients: Patients included 35 women with CAH, representingPrader stages I-V at birth, aged 18 -43 yr, who had been treated from birth to adolescence in the same pediatric endocrine clinics. Sixtynine non-CAH healthy control women were selected from hospitalstaff families.Results: None of the CAH women expressed doubts about their gender assignment. Twenty percent (seven of 35) had homosexual inclinations; 23% (eight of 35) were married; three reported a complete lack of sexual activity; and 37% (13 of 35) said they never had heterosexual intercourse with vaginal penetration. Sexual functioning as assessed by the Female Sexual Function Index was much lower in CAH women than controls and lowest in CAH women with high Prader stages. Eighty-one percent (18 of 22) experienced pain during vaginal penetration. Only eight women became pregnant, and 17% (six of 35) had children. Conclusions

Patients with PWS exhibit a high prevalence of SDB. The lack of association between obesity and SDB leads to hypothesize that hypotonia and/or facial dysmorphic features may play a major role in the occurrence of SDB.

Background Food allergy is a potentially life‐threatening disease, affecting up to 10% of the pediatric population. Objective The aim of our study was to assess the health‐related quality of life (HRQL) of food‐allergic patients compared with the general population and patients with other chronic diseases with dietary or allergic burden, in a cross‐sectional study. Methods We recruited patients aged 8–17 years diagnosed with food allergy and matched healthy controls recruited in schools. We also included patients with asthma, inflammatory bowel disease, celiac disease, diabetes, obesity, and eating disorders. We used the CHQ‐CF87 questionnaire for generic HRQL assessment. Food allergy HRQL was also assessed using specific questionnaires: Food Allergy Quality of Life Questionnaire (FAQLQ) and Food Allergy Independent Measure (FAIM). Results One hundred and thirty‐five food‐allergic children, 255 children with chronic diseases, and 463 healthy controls were included in the analyses. Food‐allergic patients had a better HRQL than healthy controls in the Behavior (BE), Bodily Pain (BP), Family Activities (FA), and Mental Health (MH) domains and a worse HRQL in the General Health Perception (GH) domain (p = .048). Food‐allergic patients exhibited a better HRQL than patients affected by other chronic diseases, notably diabetes. Although an epinephrine autoinjector had been prescribed to 87.4% of the food‐allergic children, only 54.2% of them carried it at all times. Conclusion Food‐allergic patients display overall good HRQL compared with the general population and those with other diseases with daily symptoms and treatments, in line with recent improvements in food allergy management.

Background Chromosome 8p deletions are associated with a variety of conditions, including cardiac abnormalities, mental, behavioral problems with variable morphotype and genitourinary anomalies in boys. Methods We describe the follow‐up over almost 15 years of a boy who initially presented with perineal hypospadias with a micropenis and cryptorchidism with 46, XY DSD . Results Imaging, pathology, and hormonal exploration suggested gonadal dysgenesis. Further genetic studies were deemed necessary during follow‐up. The child's further development recommended further genetic analyses. High‐resolution analysis showed an interstitial deletion on the short arm of a chromosome 8: 46, XY ,del(8)(p23.1p23.1). We reviewed the literature and found 102 cases including 54 boys: 62.7% had mental problems, 50.9% a dysmorphic disorder, 55.9% cardiac anomalies, and 46.3% of the boys had genitourinary anomalies. Our patient's genital abnormalities can be explained by the haploinsufficiency of the genes, such as GATA 4 ( OMIM 600576) that are included in the deleted area. Conclusion This case of severe 46, XY DSD raises the question of the role played by 8p23 microdeletion in gonadal dysgenesis. Clinicians are encouraged to look for this anomaly on chromosome 8 in cases of unexplained gonadal dysgenesis even when few signs suggestive of this anomaly are present.

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