Objective: The aim of this study was to assess the quality of life and psychosocial well-being in women with disorders of sex development (DSD).Design: An open case-control study. Methods: Social and psychiatric information was collected via a structured interview from 70 Danish women diagnosed with DSD, 70 controls matched on sex, age, and school education, and six women with isolated genital malformations. Quality of life and mental distress were assessed by 'Quality of LifeAssessment of Growth Hormone Deficiency in Adults' (QoL-AGHDA) and three symptom scales from the 'Hopkins Symptom Checklist' (SCL-90-R; i.e. somatization, depression, and anxiety) respectively. For both measures, higher scores reflected poorer outcomes. Results: Present relationships and having children were less frequent in patients than in controls (PZ0.02 and P!0.001 respectively). Previous suicidal thoughts (PZ0.002) and a higher frequency of psychological/psychiatric counseling for severe problems (PZ0.06) were more frequently reported in patients than in controls. The mean QoL-AGHDA score was significantly higher in patients than in controls (5.5 vs 2.9; PZ0.002), especially for congenital adrenal hyperplasia (CAH) females (PZ0.01) and virilized 46,XX and 46,XY females (PZ0.04). The total SCL score was higher in patients than in controls (mean 23.2 vs 20.0), reaching significance for anxiety (mean 6.3 vs 4.3, PZ0.03) with highest score in CAH (PZ0.01). Conclusion: An impaired quality of life and more affective distress were observed especially in CAH patients and virilized 46,XX and 46,XY females. This may be caused by trauma from distressing diagnostic procedures, the chronic illnesses per se, and psychosocial consequences of the disorders.European Journal of Endocrinology 155 877-885

Chronological age was inversely related to serum AMH concentration, total AFC, and ovarian volume. Subclasses of AFC sized 2-4 and 5-7 mm decreased with increasing age, whereas AFC sized 8-10 mm increased with increasing age. Within AFC, a shift toward larger follicles with increasing age was observed. The occurrence of large follicles was more strongly related to biological age in terms of AMH and AFC than chronological age.

Context The lack of sensitive and robust analytical methods has hindered the reliable quantification of estrogen metabolites in subjects with low concentrations. Objective To establish sex-specific reference ranges for estrone (E1) and estradiol (E2) throughout life and to evaluate sex-differences using the state-of-the-art liquid chromatography tandem mass spectrometry (LC-MS/MS) method for quantification of E1, E2, and estriol (E3). Design LC-MS/MS method development and construction of estrogen reference ranges. Settings Population-based cross-sectional cohorts from the greater Copenhagen and Aarhus areas. Participants Healthy participants aged 3 months to 61 years (n = 1838). Results An isotope diluted LC-MS/MS method was developed and validated for measurements of serum E1, E2, and E3. Limits of detections (LODs) were 3 pmol/L (E1), 4 pmol/L (E2), and 12 pmol/L (E3), respectively. This sensitive method made it possible to differentiate between male and female concentration levels of E1 and E2 in children. In girls, E2 levels ranged from <LOD to 100 pmol/L during mini-puberty, whereas it was ≤20 pmol/L during childhood. E1 and E2 increased with age and pubertal breast stage and varied during the menstrual cycle; E1 was lower than E2 in girls and premenopausal women, and higher than E2 in postmenopausal women. In boys, E1 and E2 increased with age and pubertal stage, whereas little changes with age were observed in men. High E3 concentrations were confirmed in pregnant women. Conclusion Reference ranges of simultaneous quantification of E1 and E2 by this novel specific and highly sensitive LC-MS/MS method provide an invaluable tool in clinical practice and in future research studies.

Reference ranges for reproductive hormones and LH/FSH ratio during mini-puberty were established in this study. The classifiers that best separated sex in mini-puberty were AMH, LH/FSH ratio, and T. Use of the LH/FSH ratio may add valuable information in the workup of infants suspected of DSD.