Early Genital Surgery in Disorders/Differences of Sex Development: Patients' Perspectives.

Controversy continues over a proposed moratorium on elective genital surgery in childhood for disorders/differences of sex development (DSD). Empirical evidence on patient preference is needed to inform decision-making. We conducted a multicentre survey by cross-sectional questionnaire in 14 specialized clinics in six European countries. The sample comprised 459 individuals (≥ 16 years) with a DSD diagnosis, including individuals with congenital adrenal hyperplasia (CAH) (n = 192), XY DSD with prenatal androgen effect (A) (n = 150), and without (nA) (n = 117). Main outcome measures were level of agreement with given statements regarding genital surgery, including clitoris reduction, vaginoplasty, and hypospadias repair. A total of 66% of individuals with CAH and 60% of those with XY DSD-A thought that infancy or childhood were the appropriate age for genital surgery. Females with XY DSD were divided on this issue and tended to prefer vaginoplasty at a later age (XY DSD-A 39%, XY DSD-nA 32%). A total of 47% of males preferred early hypospadias surgery. Only 12% (CAH), 11% (XY DSD-A), and 21% (XY DSD-nA) thought they would have been better off without any surgery in childhood or adolescence. Individuals who had early genital surgery were more likely to approve of it. Outcome data failed to support a general moratorium on early elective genital surgery. Participant perspectives varied considerably by diagnostic category, gender, history of surgery, and contact with support groups. Case-by-case decision-making is better suited to grasping the ethical complexity of the issues at stake.Trial registration: German Clinical Trials Register DRKS00006072.

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

OBJECTIVE: 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. DESIGN: This multicentre clinical evaluation study was part of a German network related to DSD funded by the German Ministry of Science and Education (BMBF 2003 to 2007). METHODS: To assess health-related quality of life (HRQoL), we used the Short Form Health Survey (SF-36), and for psychological well-being, the Brief Symptom Inventory (BSI). Participants were classified into five groups: females with CAH, females with XY DSD conditions where there is a partial androgen effect (partial androgen insensitivity, mixed/partial gonadal dysgenesis, disorders of androgen biosynthesis), females with XY DSD without androgen effect (complete androgen insensitivity, complete gonadal dysgenesis), males with XY DSD, and individuals with DSD conditions and other gender. RESULTS: Participants included 110 adults with DSD (age range 17-62). We found a trend of lowered mental HRQoL and significant higher physical HRQoL for participants as compared to the norm. The high physical HRQoL especially applied to females with androgen effect and XY karyotype. Participants reported significant higher psychological distress compared to the norm. Forty-seven participants (42·7%) reported distress in a clinically relevant range on the BSI. CONCLUSIONS: Although we did not find significant impairments in overall HRQoL, participants reported significant impaired psychological well-being. Specialized interdisciplinary care should focus in particular on psychological issues to ensure good overall health and well-being.

Subjective need for psychological support (PsySupp) in parents of children and adolescents with disorders of sex development (dsd).

UNLABELLED: Disorders/diversity of sex development (dsd) is an umbrella term for congenital conditions often diagnosed within childhood. As most parents are unprepared for this situation, psychological support (PsySupp) is recommended. The aim of this study was to analyse the extent to which parents express a need for PsySupp. Three hundred twenty-nine parents of children with dsd were included; 40.4 % of the parents indicated to have a need for PsySupp, only 50 % of this group received it adequately. The diagnoses partial gonadal dysgenesis, partial androgen insensitivity syndrome (pAIS) and disorders of androgen synthesis are associated with a high need for PsySupp in parents (54, 65, and 50 %). Sex assignment surgery neither reduced nor increased the need for PsySupp. Taking a picture, radiography, laparoscopy, gonadal biopsy, gonadectomy and hormonal puberty induction are associated with a high need for PsySupp. There was no association between the need for PsySupp and the parents' perception of the appearance of the genitalia. CONCLUSION: Having a child with dsd is associated with a high need for PsySupp in parents. In particular, parents of children with XY-dsd with androgen effects other than hypospadias expressed a high need of PsySupp. PsySupp for parents should be an obligatory part of interdisciplinary care to reduce fears and concerns. What is known • In parents, having a child with dsd provokes insecurities and fears. Hence, psychological support is recommended as part of the interdisciplinary care. What is new • This is the first study investigating the subjective need for psychological support in a large sample of parents of children with dsd in Germany. We present data on the subjective need for psychological support of the parents, related diagnoses and factors, which should be considered in psychological counselling.

Psychological support for individuals with differences of sex development (DSD).

OBJECTIVE: Congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex characteristics are referred to as Differences of Sex Development (DSD). Psychosocial care is recommended to be an integral part of clinical management for individuals with DSD. Few studies have examined the perceived need for, utilization of and the opinions of individuals with DSD regarding psychological support. METHODS: This cross-sectional study was part of a European multicentre study in 14 different medical centres in six countries. In total, 1040 individuals with DSD participated in a patient-reported outcome questionnaire asking about experiences and opinions regarding psychological support in DSD care. RESULTS: A majority of the participants reported that they had not received psychological support, in childhood and/or adolescence (70.6%, n = 692) nor in adulthood (67.9%, n = 661). Need for psychological support in childhood and/or adolescence was reported by 51.3% (n = 503), need for psychological support in adulthood, was reported by 49.5% (n = 482). The majority (80.2%; n = 718) agreed with the statement that people with DSD should always be offered psychological support. According to 78.7% (n = 697) of the participants, parents of children with DSD should always be offered psychological support. CONCLUSION: Our findings support the existing consensus that psychological support should be an integral part of DSD care. The discrepancy between received and perceived need for psychological support suggests that individuals with DSD experience barriers to access mental health care services. Psychosocial and psychological services for children, adolescents and adults should therefore be available and offered throughout the lifespan to individuals with DSD.

Disorders or Differences of Sex Development? Views of Affected Individuals on DSD Terminology.

Over a decade ago, the participants at the International Consensus Conference on Intersex proposed Disorders of Sex Development (DSD) as an umbrella term for "congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical". The Group recommended the terminology be sensitive to concerns of individuals having these conditions. Yet, controversy rages over the term DSD. This multicentre clinical evaluation study was initiated as part of the European research group dsd-LIFE to evaluate patient-reported outcome. In total, 1,040 individuals with conditions labeled as Disorders of Sex Development were recruited in Poland, Sweden, Germany, France, United Kingdom and the Netherlands. All participants were asked to rate the terms describing their conditions. Overall, a large majority of participants (69%) reported that the term Disorders of Sex Development applied to their condition or that they felt neutral about it. Most participants preferred terms that were specific to their somatic condition. Overall, our data do not support the view that, in general, the term Disorders of Sex Development is insensitive to concerns of affected persons and that it should therefore be abandoned. However, in the clinical encounter, we recommend that clinicians evaluate each patient's preferences.

Sexuality in Males With Congenital Adrenal Hyperplasia Resulting From 21-Hydroxylase Deficiency.

PURPOSE: Although sexuality has been reported to be impaired in females with congenital adrenal hyperplasia (CAH) resulting from 21-hydroxylase deficiency, sexuality in males with CAH so far has remained largely unconsidered. PATIENTS: One of the largest European male cohorts of patients with CAH in which sexuality in male patients with CAH was assessed. METHODS: Sexuality was evaluated in 91 sexually active male patients with CAH using questionnaires investigating sexual orientation, age at sexual initiation, sexual activity, satisfaction with sex life, and sexual problems, such as fears or dislike of sexual activity, lack or excessive sexual desire, difficulties getting aroused or reaching an orgasm, premature ejaculation, and no or incomplete erection. RESULTS: Sexuality in male patients with CAH was similar to European reference populations. If sexuality problems were present, they were less frequently reported by the most severely affected CAH males. Adducing a holistic perspective, sexual problems showed substantial association to psychological problems, such as anxiety and depression. CONCLUSIONS: Sexuality in male patients with CAH in general was unaffected and sexuality problems seemed to be associated in particular with psychological problems. Because sexual health is a key factor of general health, we recommend that sexuality as well as psychological issues explicitly should be addressed in health care of patients with a CAH diagnosis, independent of sex.