Women's response regarding timing of genital surgery in congenital adrenal hyperplasia.

Purpose: To study what adult women with congenital adrenal hyperplasia (CAH) thought about the timing of genital surgery.

Methods: As part of a larger follow-up study performed between the years 2002-2005 there were questionnaires concerning genital surgery, type of surgery, their thoughts about timing of genital surgery and experience of information about surgery. Early surgery was defined as ≤4 years of age and late ≥10 years.

Identity, Sexuality, and Parenthood in Women with Congenital Adrenal Hyperplasia.

Study Objective: To explore how women with congenital adrenal hyperplasia (CAH) describe their experiences of gender role behavior, psychosexual development, and intimate relationships. CAH results in increased androgen exposure in affected females, and is the most common reason for unclear sex at birth. Women with CAH have been studied to find answers to the role of androgens in psychosexual development.

The experience of women living with Congenital Adrenal Hyperplasia: impact of the condition and the care given.

Context: Congenital adrenal hyperplasia (CAH) is caused most often by mutations in the CYP21A2 gene, resulting in cortisol and aldosterone deficiency and increased production of androgens.

Objective: To describe how women with CAH experience their condition and the care given.

Design, Setting And Participants: Semi-structured interviews with 13 adult Swedish women with CAH were transcribed.

Voice problems due to virilization in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Objective: Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder in which the lack of 21-hydroxylase results in cortisol and aldosterone insufficiency and an overproduction of adrenal androgens. High levels of androgens in women may cause virilization of the larynx and a masculine voice. The purpose of the present study was to investigate subjective voice problems due to virilization in women with CAH.

Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception.

Context: Females with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency are exposed to androgens during fetal development, resulting in virilization of the external genitalia. Little is known about how these women feel that the disease has affected their lives regarding surgery and psychosexual adaptation.

Objective: Our objective was to investigate the correlation between the surgical results, the self-perceived severity of the disease, and satisfaction with sexual life and relate the results to the CYP21A2 genotype.

Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.

Context: Gender-atypical behavior has been described in young girls as well as in women with congenital adrenal hyperplasia (CAH) due to a CYP21A2 deficiency.

Objective: The aim of the study was to assess health-related, psychosexual, and psychosocial parameters and correlate the results to CYP21A2 genotype.

Design And Participants: Sixty-two Swedish women with CAH and age-matched controls completed a 120-item questionnaire and a validated quality of life instrument [psychological general well-being (PGWB) formula] to identify psychosexual and psychosocial parameters.

Reduced bone mineral density in adult women diagnosed with menstrual disorders during adolescence.

Objective: To evaluate the long-term effects on bone mineral density (BMD) in women diagnosed with menstrual disorders in their adolescence.

Design: Prospective follow-up study six years after the initial investigation.

Setting: A youth clinic that is part of the school health system in Stockholm.

Increased liver enzymes in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

The aims were assessing liver function tests (LFT) in women with congenital adrenal hyperplasia (CAH) on glucocorticoids. Sixty-one women with genetically verified CAH due to 21-hydroxylase deficiency, aged 18-63 years were compared to 61 controls. Serum alkaline phosphatase (ALP), alanine aminotransferase (ALT), aspartate aminotransferase (AST) and gamma-glutamyl transpeptidase (GGT), anthropometry and fat mass (dual energy X-ray absorptiometry) were measured.

Prospective follow-up of menstrual disorders in adolescence and prognostic factors.

Objective: Clinical follow-up of menstrual status and eating behavior in grown-up women diagnosed with menstrual disturbance in adolescence.

Design: Prospective follow-up study six years after the initial study.

Setting: A youth clinic that is part of the school health system in Stockholm.

Voice characteristics in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Objective: Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder resulting in lack of cortisol and often aldosterone and overproduction of androgens. Raised levels of androgens can lead to increased mass in the laryngeal tissues, which may lower the fundamental frequency (F0) of the voice.

Design/patients: A follow-up study of voice characteristics in 38 women with CAH and 24 age-matched controls between 18 and 63 years of age using subjective self-ratings of voice symptoms and acoustic and perceptual analyses.

Ovarian epithelial neoplasia after hormonal infertility treatment: long-term follow-up of a historical cohort in Sweden.

Objective: To study the association between hormonal infertility treatment and ovarian neoplasia.

Design: Historical cohort study.

Setting: Three university hospitals in Sweden.

Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia.

Context: In congenital adrenal hyperplasia (CAH) caused by different mutations, feminizing surgery is mostly performed in childhood, and many patients are lost to follow-up.

Objective/patients: A follow-up study on 62 CAH women aged 18-63 yr and 62 age-matched controls to correlate findings of both operative method and mutation was performed.

Design: Semistructured interviews were performed in cases and controls, as well as a gynecological examination in the cases.

Fractures and bone mineral density in adult women with 21-hydroxylase deficiency.

Context: Patients with classical congenital adrenal hyperplasia (CAH) receive lifelong, often supraphysiological, glucocorticoid therapy. Pharmacological doses of glucocorticoids are an established risk factor for osteoporosis.

Objective: Our objective was to evaluate bone mineral density (BMD), fracture prevalence, and markers of bone metabolism in adult females with CAH.

Menstrual disorders and associated factors among adolescent girls visiting a youth clinic.

Background: Menstrual disturbances are common among teenagers and are often explained by immaturity of the hypothalamic-pituitary-gonadal axis. However, little is known about the underlying causes. The aim of this study was to evaluate endocrine mechanisms of menstrual disturbances and associated factors among adolescent girls visiting a Swedish youth clinic.

Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Context: The chronic, often supraphysiological glucocorticoid doses used in congenital adrenal hyperplasia (CAH) might increase morbidity in cardiovascular disease and diabetes.

Objective: Our aim was to assess risk factors for cardiovascular disease and diabetes in CAH women. SUBJECTS, METHODS, AND DESIGN: We compared 61 women, 18-63 yr, with CAH due to 21-hydroxylase deficiency with 61 age- and sex- matched controls.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--the adult woman.

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disease with a varying phenotype depending on the mutation(s) present and the severity of the disease. All children with CAH need to be continuously cared for from birth or early infancy by specialists in paediatric endocrinology and surgery. Complications due to over- or under-treatment with corticosteroids are often seen during adolescence, and these problems often continue into adulthood.

[End-of-life sedation--definition and clinical guidelines needed].

End-of-life sedation is not well defined in clinical medicine. The Swedish Society of Medicine, Delegation for Medical Ethics, arranged a Nordic expert workshop to discuss issues of terminology, indications, information and consent, follow up and teaching. It was concluded that the following issues must be part of the decision-making process: the diagnosis and prognosis must be correct, all other treatment options including psychological and existential support must have been tried, there must be consensus between the patient, the family and the staff about the situation and the proposed treatment.