[Uterovaginal agenesis and polycystic ovary syndrome: psychological disturbance in adolescence].

Mayer-Rokitansky-Küster-Hauser Syndrome (MRKHS) is characterized by complete or partial absence of the vagina, uterus and proximal fallopian tubes and diagnosis is usually made in late adolescence, when primary amenorrhea appears as the major symptom. Polycystic Ovary Syndrome (PCOS), which is the most common endocrine disorder among women of reproductive age, includes a variety of clinical manifestations (menstrual irregularities, hirsuitism, acne, alopecia, obesity and infertility), due to androgen hypersecretion, insulin resistance and chronic anovulation. Both MRKHS and PCOS have been studied concerning the psychological aspects and have been associated with emotional distress as well as self-esteem, body image, identity and femininity impairment. The purpose of this study was to assess psychological functioning in adolescents with uterovaginal agenesis and primary amenorrhea due to MRKHS and those with hyperandrogenism and oligomenorrhea due to PCOS, compared with healthy adolescents. The participants were 70 adolescent girls, of whom 24 with MRKHS, 22 with PCOS and 24 healthy eumenorrheic adolescents (control group) matched by age and school grade. Psychological assessment included self report questionnaires, standardized in Greek population sample. Particularly, the "Beck Depression Inventory" (BDI), the "State-Trait Anxiety Inventory" (STAI-Gr) and the "Youth Self Report" (YSR) were used to measure depression, anxiety and psychopathology respectively, while the "Symptom Checklist-90-R" was used to measure psychopathology for the patients >18 years old. The results showed significantly higher scores on the state - anxiety scale for the MRKHS group compared with the control group. The MRKHS patients in late adolescence (18-20 years old) presented also significantly higher scores in depression and psychopathology scales (symptoms of anxiety, aggressive behavior and phobic disorder) than PCOS patients of the same age. On the contrary, regarding PCOS patients, age was negative correlated with attention problems and PCOS patients >18 reported significantly more somatic complaints compared with age-mate MRKHS patients and controls. PCO syndrome's clinical manifestations, including menstrual disorders, hirsuitism, acne, alopecia, obesity and infertility, may cause significant emotional distress. Nevertheless, they appear in great variety and our sample is characterized by mild features of hyperandrogenism and oligomenorrhea. This may explain findings of milder psychological disturbance associated with PCOS in this sample in comparison to other studies. As far as MRKHS is concerned, diagnosis and loss of reproductive ability, especially in late adolescence, obstruct emotional stability, physical maturity and sexual identity development ending that are expected in this period of life. Undoubtedly, the management of MRKHS in adolescence constitutes a complex multidisciplinary issue and psychological support of patients is needed in order to prevent possible psychological consequences and to achieve a normal transition to adulthood. Among the limitations of this study is the small sample size, which limits the generalisability of the reported results, especially in "Youth Self Report" and in "Symptom Checklist-90-R" questionnaires, where the sample was divided according to the age. Nevertheless, the very low incidence of MRKHS (1/5000) emphasize the value of the present results, which support the need for further investigation.

Psychological and behavioural aspects of patients with Turner syndrome from childhood to adulthood: a review of the clinical literature.

Turner syndrome (TS) is a chromosomal abnormality, which occurs in approximately one of every 2500 female births. Short stature, infertility, additional physical abnormalities, skeletal and medical problems may be present. Genetic, hormonal, and medical problems associated with TS are likely to affect psychosexual development of female adolescent patients, and thus influence their psychological functioning, behavior patterns, social interactions and learning ability. Although TS constitutes a chronic medical condition, with possible physical, social and psychological complications in a woman's life, hormonal and estrogen replacement therapy and assisted reproduction, are treatments that can be helpful for TS patients and improve their quality of life. Authors report on a review of the research literature clinical aspects of the syndrome as well as the beneficial effect of hormonal therapy in such patients.

Social adjustment in three cultures: data from families affected by chronic blood disorders. A sibling study.

This study explores the rate of psychosocial dysfunction in affected and unaffected children from families with haemophilia or beta-thalassaemia, as part of a cross-sectional, multicentre study into the resilience of 115 families with blood disorders. Sociodemographic and developmental data were collected from the parents using a standardized and semi-structured interview format, and medical data were obtained from the clinician. The children's social functioning over the year prior to the assessment was assessed with The Social Adjustment Scale adapted for school-aged children. Children with beta-thalassaemia showed significantly higher rates of social dysfunction than their unaffected siblings or children with haemophilia and their siblings. Older children showed significantly higher social dysfunction at school. The high rate of social dysfunction in children with beta-thalassaemia compared with unaffected siblings is likely to have a basis in the negative experiences associated with their medical problems. In contrast, the therapeutic advances in haemophilia allows boys to lead an almost normal life. Overall, the rates of social dysfunction in families with both these disorders proved commoner than reported in population surveys, but with the unavailability of local population controls, caution needs to be exercised in the interpretation of this finding.