IRIS: methodological assessment of psychopathological disease in a cohort of hirsute women.

BACKGROUND: Hirsutism in females can be a source of considerable psychological distress and a threat to female identity. The aim of our study was to evaluate a possible relationship between facial, total body hair involvement and physical, mental and social well-being during 12 months of follow-up and treatment. Both objective and subjective methods of evaluating hirsutism were used: the Ferriman-Gallwey (FG) scoring method and the questionnaires General Health Questionnaire (GHQ)-12, Polycystic Ovary Syndrome Questionnaire (PCOSQ) and SF-12. METHODS: The total of 469 female patients (mean age 27.61±7.63 years) was enrolled in 27 Italian centers participating in this study. Higher total body score was correlated to significant emotional discomfort. The correlation between the FG total body score, the facial score and physical/mental health was found to be significant in all the patients assessed by SF-12 questionnaire. The ongoing reduction of GHQ-12 score was found for the facial FG score at the first follow-up (T0-T1 period) and at the second one (T0-T2). No relationship was found between T1 and T2. At both 6 (T1) and 12 months (T2) follow-up an increase of PCOSQ Score (psychological improvement) was accompanied by a concomitant reduction of the FG Score (reduction of hirsutism). Physical health assessed by SF-12 questionnaire does not change at both 6- and 12-month follow-up, but mental health decreased at both T1 and T2. RESULTS: The clinical improvement was achieved at 6 months regardless on treatment used and it was maintained for the next six-month follow-up. The clinical outcome could be assessed both by FG Score both through questionnaires administrated to each patient with hirsutism. CONCLUSIONS: For the evaluation of psychopathological discomfort the most appropriate questionnaire was GHQ-12, because of it major sensitivity to identify the psychological discomfort in the hirsutism.

Observational, prospective, multicentre study to evaluate the effects of counselling on the choice of combined hormonal contraceptives in Italy--the ECOS (Educational COunselling effectS) study.

BACKGROUND: Adequate counselling on contraceptive methods can help users choose the most appropriate method. The aim of this study was to assess the effects of structured counselling provided by gynaecologists on selection of a combined hormonal contraception method. METHODS: Women aged 18-40 years (n = 1871) who were considering the use of a combined hormonal contraception method (pill, transdermal patch or vaginal ring) underwent a structured counselling session in which gynaecologists provided comprehensive information. Pre- and post-counselling questionnaires on combined hormonal contraception choice were completed by participants. RESULTS: After counselling, many women (38 %) selected a combined hormonal contraception method that was different from the originally intended one. Preferences for the transdermal patch approximately doubled (from 3.2 % pre-counselling to 7 %; p < 0.0001) and those for the vaginal ring increased four-fold (from 5.2 to 21.2 %; p < 0.0001), while preference for the pill remained unchanged (from 64.5 % [pre-] to 64.1 % [post-counselling]). The proportion of undecided women decreased from 18 to 2.1 % (p < 0.0001). The main reasons for choosing a method were related to ease of use (all methods), and preferences for administration frequency (daily, weekly or monthly). The number of patients requiring post-counselling contact with the physician's office was low (5.1-6.9 %), as was the incidence of adverse events (1.8-3.1 %). CONCLUSIONS: Counselling has a significant impact on women's choice of combined hormonal contraception and encourages them to consider alternative methods to combined oral contraceptives. Moreover, it also enables women to use their chosen method with confidence. TRIAL REGISTRATION: NCT01181778 , Trial registration date: August 12, 2010.

Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.

OBJECTIVE: To determine the genetic cause of primary amenorrhea in a 46,XY woman. DESIGN: Case report. SETTING: Centre of Gynecological Endocrinology and Cytogenetics and Molecular Genetics Laboratory of university medical school. PATIENT(S): A 19-year-old woman referred for primary amenorrhea. INTERVENTION(S): Clinical, endocrinologic, and ultrasonographic investigation and SRY mutation analysis. MAIN OUTCOME MEASURE(S): Hormone profile (LH, FSH, PRL, leptin, E(2), 17alpha-hydroxyprogesterone, 3alpha-androstanediol glucuronide), ultrasonographic evaluation, clinical follow-up. RESULT(S): A new SRY sporadic mutation due to a single nucleotide insertion at codon 13 position 38 (38-39insA) was found in a 46,XY woman with sex reversal. This mutation determined a frameshift of the reading frame sequence and a protein truncation at codon 16. Clinical and endocrinologic data are reported. CONCLUSION(S): This is a new rare case of a single nucleotide insertion affecting the SRY gene in 46,XY females with sex reversal. This new mutation should be considered in genetic counseling.

Endocrine profiles and neuropsychologic correlates of functional hypothalamic amenorrhea in adolescents.

OBJECTIVE: To determine trigger factors and neuropsychologic correlates of functional hypothalamic amenorrhea (FHA) in adolescence and to evaluate the correlations with the endocrine-metabolic profile. DESIGN: Cross-sectional comparison of adolescents with FHA and eumenorrheic controls SETTING: Academic medical institution PATIENT(S): Twenty adolescent girls with FHA (aged <18 years) and 20 normal cycling girls INTERVENTION(S): All subjects underwent endocrine-gynecologic (hormone) and neuropsychiatric (tests and interview) investigations. A separate semistructured interview was also used to investigate parents. MAIN OUTCOME MEASURE(S): Gonadotropins, leptin, prolactin, androgens, estrogens, cortisol, carrier proteins (SHBG, insulin-like growth factor-binding protein 1), and metabolic parameters (insulin, insulin-like growth factor 1, thyroid hormones) were assayed in FHA and control subjects. All girls were evaluated using a test for depression, a test for disordered eating, and a psychodynamic semistructured interview. RESULT(S): Adolescents with FHA showed a particular susceptibility to common life events, restrictive disordered eating, depressive traits, and psychosomatic disorders. The endocrine-metabolic profile was strictly correlated to the severity of the psychopathology. CONCLUSION(S): Functional hypothalamic amenorrhea in adolescence is due to a particular neuropsychologic vulnerability to stress, probably related to familial relationship styles, expressed by a proportional endocrine impairment.

Androgens, insulin-like growth factor-I (IGF-I), and carrier proteins (SHBG, IGFBP-3) in postmenopause.

OBJECTIVE: To determinate the profile of androstenedione (A), total (T), and free testosterone (FT), dehydroepiandrosterone (DHEA), DHEA-sulphate (DHEAS), sex hormone-binding globulin (SHBG), insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) in non-smoking, postmenopausal women of normal weight and to search for correlations between hormones and carrier proteins and chronological age, number of years of postmenopause and age of onset of menopause. DESIGN: A group of 149 postmenopausal women aged 49 to 74 years were divided into three groups based on the number of years of postmenopause: 2-4 years (group A), 9-12 years (group B), and 19 years or more (group C). Seventy-two women aged 21 to 35 years were the controls. Hormones and carriers were assessed in all groups. RESULTS: A, DHEA, DHEAS, and IGF-I were significantly lower than controls in all groups, whereas T, FT, SHBG, and IGBFP-3 were lower only in groups B and C. All hormones and carriers were negatively correlated with the number of years of postmenopause; DHEA and T also showed a positive correlation with the age of onset of menopause. CONCLUSIONS: Androgens, SHBG, and IGF-I/IGFBP-3 show a diversified decline in postmenopause that is involved in the physiological aging process. Thus, a modification, in excess or deficiency, could favor the development of central symptoms or pathologies.