Anke Lux

Psychosexual Development in Adolescents and Adults with Disorders of Sex Development—Results from the German Clinical Evaluation Study

INTRODUCTION Both biological and psychosocial factors influence psychosexual development. High levels of pre- and postnatal androgens lead to more male-typical behavior. So far, the influence of androgens on gender identity and sexual orientation is unclear. Disorders of sex development (DSDs) are heterogeneous genetic conditions with different levels of prenatal androgens resulting in variations of genital development. Through DSD, the role of the different factors, especially androgen exposure, on psychosexual development can be evaluated. AIM The purpose of the study was to assess psychosexual development in adolescents and adults with different forms of DSD. METHODS For the examination of psychosexual development of 66 adolescents and 110 adults with DSD, the authors used the Utrecht Gender Dysphoria Scale for adolescents, the Questionnaire of Gender Identity for adults, and a condition-specific DSD study questionnaire. Individuals were analyzed in four subgroups reflecting the karyotype, absence/presence of androgen effects, and gender of rearing. MAIN OUTCOME MEASURES Main outcome measures used were gender identity, friendships, love and sexual relationships, and sexual orientation in adolescents and adults with DSD. RESULTS Individuals with DSD did not show increased gender dysphoria. However, partnership and sexuality were identified to be difficult areas of life. Both adolescents and adults with DSD reported fewer experiences regarding love or sexual relationships compared with unaffected individuals. Especially men with DSD and undervirilization and women with DSD and androgen effects less often had a love relationship. Adult women with DSD and androgen effects more frequently engaged in love and sexual relationships with individuals of the same gender compared with women without DSD. CONCLUSION Individuals with DSD experience atypical hormonal influences (higher levels of androgens in girls/women and lower levels in androgens in boys/men); however, they did not show increased gender dysphoria in this study. However, partnership and sexual relationships are difficult areas of life for adolescents and adults with DSD. We recommend that individuals with DSD should get support from a multiprofessional team with competency in assessing and counseling issues regarding relationships and sexuality. Contact to other individuals with DSD can be helpful for nonprofessional support and exchange of experiences.

Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality

BackgroundThe German Network of Disorders of Sex Development (DSD)/Intersexuality carried out a large scale clinical evaluation study on quality of life, gender identity, treatment satisfaction, coping, and problems associated with diagnoses and therapies in individuals with disorders of sex development (DSD). DSD are a heterogeneous group of various genetic disorders of sex determination or sex differentiation, all of which are rare conditions. In about half of all cases the molecular genetic diagnosis is unknown and diagnosis rests on clinical features.Methods and designThe multi-centre clinical evaluation study includes short-term follow-up in some and cross-sectional assessments in all age and diagnostic groups fitting the criteria of DSD. Recruitment was from January 2005 until December 2007 in whole Germany and, additionally, in 2007 in Austria and German-speaking Switzerland. The study consists of a psychosocial inquiry for children, adolescents and their parents, and adults with standardized instruments and the collection of DSD-specific medical data by the attending physician. The main goal was the description of clinical outcomes and the health-care situation of individuals with DSD using a broad generic definition of DSD including all conditions with a mismatch of chromosomal, gonadal and phenotypical sex. 439 children and adolescents, their parents and adults with DSD participated.DiscussionThe clinical evaluation study represents the most comprehensive study in this clinical field. The paper discusses the study protocol, the data management and data quality as well as the classification used, and it describes the study population. Given the lack of large datasets in rare conditions such as DSD and often biased results from small scale clinical case series, the study aims to generate concrete hypotheses for evidence-based guidelines, which should be tested in further studies.

Psychological Adjustment and Sexual Development of Adolescents With Disorders of Sex Development

PURPOSE Disorders of sex development (DSD) are a heterogeneous group of congenital conditions characterized by an atypical development of chromosomal, gonadal, or anatomical sex. Particularly at the time of expected puberty, adolescents with DSD may become aware of being different from peers. This study explores the effect of DSD on psychosocial well-being and sexual development. METHODS We interviewed 60 adolescents aged 13-16 years with a DSD. To measure health-related quality of life, mental health, and body image, we used standardized instruments and additional questions related to sexuality and coping with DSD. Reference and control data were available from the German Health Survey for Children and Adolescents (Kiggs) and from a secondary school survey. RESULTS The general psychological well-being of adolescents with DSD was not impaired. However, outcomes related to adolescent developmental tasks like sexual activities demonstrated impaired participation, especially girls with DSD reported fewer sexual activities than female controls. Adolescents who needed hormonal treatment to induce puberty reported impaired well-being in nearly all outcomes in contrast to those who entered puberty spontaneously. CONCLUSIONS Interdisciplinary health care teams should focus on the pressure of conformity and openly discuss it with the adolescent in context of treatment decisions. Furthermore, special counseling concerning sexuality and coping with the condition in daily life is needed.

Utilization of Health Care Services and Satisfaction with Care in Adults Affected by Disorders of Sex Development (DSD)

ABSTRACTBACKGROUNDDisorders of sex development (DSD) are a heterogeneous group of rare genetic disorders of sex determination or differentiation. Evidence-based guidelines concerning gender assignment and surgical and hormonal treatment are limited for many DSD entities, and health care is highly fragmented across various sub-specialties and settings. A lack of informed consent, secrecy about the condition, shame, and impaired sexual and psychosocial functioning may affect satisfaction with care.OBJECTIVESThe main goal of this study was to describe satisfaction with care in individuals with DSD and to identify factors associated with low satisfaction with care.METHODS / MAIN MEASURESUsing both biological (chromosomes) and social categories (sex of rearing), we classified participants according to the nomenclature of the European Society for Pediatric Endocrinology/Lawson Wilkins Pediatric Endocrine Society (ESPE/LWPES) consensus statement. We used standardized measures to assess satisfaction with care (CSQ-8), health-related quality of life (SF-36), psychological symptoms (BSI), and gender identity (FGI), in addition to self-constructed questionnaires probing experiences with health care and access to self-help groups.PARTICIPANTSA total of 110 adults were recruited between January 2005 and December 2007 in four study centers in Germany, Austria, and German-speaking Switzerland.RESULTSReports of half the participants scored below the cut-off indicating low quality of care. Women with XX DSD conditions and virilization (i.e., congenital adrenal hyperplasia) reported the highest scores for satisfaction with care, and women with XY DSD conditions and complete lack of androgen effects reported the lowest scores. Satisfaction with care was positively associated with indicators of psychological well-being.CONCLUSIONSSatisfaction with care is lowest among participants with the rarest conditions, highlighting the lack of evidence-based recommendations and the lack of coordination of care. Associations of satisfaction and well-being indicate the need to ensure access to mental health services.

Alternating Current Stimulation for Vision Restoration after Optic Nerve Damage: A Randomized Clinical Trial

Background Vision loss after optic neuropathy is considered irreversible. Here, repetitive transorbital alternating current stimulation (rtACS) was applied in partially blind patients with the goal of activating their residual vision. Methods We conducted a multicenter, prospective, randomized, double-blind, sham-controlled trial in an ambulatory setting with daily application of rtACS (n = 45) or sham-stimulation (n = 37) for 50 min for a duration of 10 week days. A volunteer sample of patients with optic nerve damage (mean age 59.1 yrs) was recruited. The primary outcome measure for efficacy was super-threshold visual fields with 48 hrs after the last treatment day and at 2-months follow-up. Secondary outcome measures were near-threshold visual fields, reaction time, visual acuity, and resting-state EEGs to assess changes in brain physiology. Results The rtACS-treated group had a mean improvement in visual field of 24.0% which was significantly greater than after sham-stimulation (2.5%). This improvement persisted for at least 2 months in terms of both within- and between-group comparisons. Secondary analyses revealed improvements of near-threshold visual fields in the central 5° and increased thresholds in static perimetry after rtACS and improved reaction times, but visual acuity did not change compared to shams. Visual field improvement induced by rtACS was associated with EEG power-spectra and coherence alterations in visual cortical networks which are interpreted as signs of neuromodulation. Current flow simulation indicates current in the frontal cortex, eye, and optic nerve and in the subcortical but not in the cortical regions. Conclusion rtACS treatment is a safe and effective means to partially restore vision after optic nerve damage probably by modulating brain plasticity. This class 1 evidence suggests that visual fields can be improved in a clinically meaningful way. Trial Registration ClinicalTrials.gov NCT01280877

A randomized investigator-blind parallel-group study to assess efficacy and safety of azelaic acid 15% gel vs. adapalene 0.1% gel in the treatment and maintenance treatment of female adult acne

Growing numbers of post‐adolescent females are suffering from treatment‐resistant or relapsing adult acne forms, therefore requiring the definition of safe and effective treatment options for this burdening disease.

Health-related quality of life and psychological well-being in adults with differences/disorders of sex development

Rare congenital conditions with incongruence of chromosomal, gonadal and phenotypic sex have been classified as differences/disorders of sex development (DSD). Included in DSD are conditions with diverse genetic aetiology, varying levels of prenatal androgen effects, phenotypes and, subsequently, different medical treatments. Quality of life (QoL) and psychological well‐being are indicators of successful psychosocial adaptation to the conditions. We sought to investigate the HRQoL and psychological well‐being in this population.

New aspects in shear-wave elastography of prostate cancer.

Aim This study was designed to evaluate the performance of shear-wave elastography as a diagnostic tool for prostate cancer in a larger cohort of patients than previously reported. Patients and methods Seventy-three patients with suspected prostate carcinoma were investigated by ultrasound elastography followed by directed biopsy. The elastographic and histological results for all biopsies were compared. Results After exclusion of invalid and non-assessable results, 794 samples were obtained for which both a histological assessment and an elastometric result (tissue stiffness in kPa) were available: according to the histology 589 were benign and 205 were malignant. Tissue elasticity was found to be weakly correlated with patients age, PSA level and gland volume. ROC analysis showed that, for the set of results acquired, elastometry did not fulfil literature claims that it could identify malignant neoplasia with high sensitivity and specificity. However, it did show promise in distinguishing between Gleason scores ≤6 and >6 when malignancy had already been identified. Unexpected observations were the finding of a smaller proportion of tumours in the lateral regions of the prostate than generally expected, and also the observation that the elasticity of benign prostate tissue is region-sensitive, the tissue being stiffest in the basal region and more elastic at the apex. Conclusions Shear-wave elastography was found to be a poor predictor of malignancy, but for malignant lesions an elasticity cut-off of 80 kPa allowed a fairly reliable distinction between lesions with Gleason ≤6 and those with Gleason >6. We demonstrate an increase in elasticity of benign prostate tissue from the basal to the apical region.

Psychiatric Disorders in Complex Regional Pain Syndrome (CRPS): The Role of the Consultation-Liaison Psychiatrist

Background Complex regional pain syndrome (CRPS) is a multifactorial disorder with complex aetiology and pathogenesis. At the outpatient pain clinic of Magdeburg University Hospital, all patients, without exception, are subject to permanent psychiatric care delivered by a consultation-liaison psychiatrist. In CRPS, psychological stabilization and treatment of the neuropathic aspects are equally important. The aim of this single-center retrospective study was to determine mental/psychiatric defects impairing pain processing at the time of investigation and show the effects of treating mental disorders and neuropathic pain with the same psychotropic drugs. Method On admission, the consultation-liaison psychiatrist examined the mental state of every patient in a semistructured interview according to AMDP (working group for methods and documentation in psychiatry). Due to the model of the Department of Anaesthesiology, we are able to compare the group of CRPS patients with all other outpatients treated for pain. Results The medical treatment of psychiatric dysfunction leads to an analgesic effect. Only every second CRPS patient had an additional psychiatric diagnosis, and 15.6% were diagnosed with depressive mood disorders and show a higher prevalence of depressive symptoms than the general population and exceed the mean for all patients treated in our pain clinic. Conclusions In neuropathies, treatment of the neuropathic pain has a modulating effect on mental disorders. As CRPS patients are frequently affected by depressions, and owing to the connection between depression and suicidal tendencies, patients should be seen by a consultation-liaison psychiatrist, and nonpsychiatrists should pay special attention to this patient group.

Female mice carrying a defective Alox15 gene are protected from experimental colitis via sustained maintenance of the intestinal epithelial barrier function

Lipoxygenases (ALOXs) are involved in the regulation of cellular redox homeostasis. They also have been implicated in the biosynthesis of pro- and anti-inflammatory lipid mediators and play a role in the pathogenesis of inflammatory diseases, which constitute a major health challenge owing to increasing incidence and prevalence in all industrialized countries around the world. To explore the pathophysiological role of Alox15 (leukocyte-type 12-LOX) in mouse experimental colitis we tested the impact of systemic inactivation of the Alox15 gene on the extent of dextrane sulfate sodium (DSS) colitis. We found that in wildtype mice expression of the Alox15 gene was augmented during DSS-colitis while expression of other Alox genes (Alox5, Alox15b) was hardly altered. Systemic Alox15 (leukocyte-type 12-LOX) deficiency induced less severe colitis symptoms and suppressed in vivo formation of 12-hydroxyeicosatetraenoic acid (12-HETE), the major Alox15 (leukocyte-type 12-LOX) product in mice. These alterations were paralleled by reduced expression of pro-inflammatory gene products, by sustained expression of the zonula occludens protein 1 (ZO-1) and by a less impaired intestinal epithelial barrier function. These results are consistent with in vitro incubations of colon epithelial cells, in which addition of 12S-HETE compromised enantioselectively transepithelial electric resistance. Consistent with these data transgenic overexpression of human ALOX15 intensified the inflammatory symptoms. In summary, our results indicate that systemic Alox15 (leukocyte-type 12-LOX) deficiency protects mice from DSS-colitis. Since exogenous 12-HETE compromises the expression of the tight junction protein ZO-1 the protective effect has been related to a less pronounced impairment of the intestinal epithelial barrier function.