Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis.

BACKGROUND: Many questions regarding the mechanisms behind sex differences in cognitive abilities are still unanswered. On a group level, men typically outperform women on certain spatial tasks, whereas women perform better on certain tests of memory and verbal ability. The prevailing theories concerning the biological predispositions for these and other differences in behaviour and brain function focus on early and prolonged exposure to sex hormones. There is, however, evidence of direct effects of sex chromosomes on sex-typical behaviour in other species. OBJECTIVES: To study the influence of sex hormones and sex chromosomes on cognition in women with Complete androgen insensitivity (CAIS) and Gonadal dysgenesis (GD). METHODS: Eighteen women with CAIS, 6 women with 46,XYGD, and 7 women with 46,XXGD were compared with age-matched male and female controls on tests of spatial and verbal abilities, memory functions, and emotion recognition. RESULTS: Women with CAIS, XYGD, and XXGD performed similar to female controls on cognitive tasks. However, on a test of emotion recognition, women with XXGD outperformed the other groups, whereas women with CAIS and XYGD performed similar to male controls. CONCLUSION: Our results support theories of androgen effects on cognitive abilities and suggest that factors related to sex chromosomes may influence emotion recognition. Implications of an atypical sex hormone situation and sex chromosome variation are discussed.

Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis.

OBJECTIVE: Knowledge concerning mental health outcomes is important to optimize the health of individuals with disorders or differences of sex development (DSD). Thus, the aim of this study was to estimate if the prevalence of psychiatric morbidity in adult women diagnosed with complete androgen insensitivity syndrome (CAIS) or complete gonadal dysgenesis (46,XY GD and 46,XX GD) differs from that in women with premature ovarian insufficiency (POI) or age-matched population controls. METHODS: This cross-sectional study was conducted at the Karolinska University Hospital, Stockholm, Sweden, and included 33 women with different DSDs: 20 CAIS, 6 46,XY GD, 7 46,XX GD, 21 women with POI and 61 population-derived controls. Psychiatric morbidity was assessed using the Mini International Neuropsychiatric Interview plus (MINI+). To complement the MINI+, three self-report questions were used to evaluate current and previous psychiatric history. Results are presented as p values and estimated risks (odds ratio [OR], 95% confidence intervals [CI]) of psychiatric conditions among women with CAIS or GD in comparison with women with POI and age-matched population-derived controls. RESULTS: Twenty-eight of the 33 women (85%) with CAIS or GD met the criteria for at least one psychiatric disorder according to the MINI+, with depression and anxiety disorders being most common. This was significantly higher compared with population controls (52%) (OR 5.1, 95% CI 1.7-14.9), but not compared to women with POI, who had a high frequency of psychiatric diagnoses (76%). CONCLUSION: The increased psychiatric morbidity in women with CAIS and GD highlights the need for clinical awareness of the psychiatric vulnerability in these patients.

Gender assignment and medical history of individuals with different forms of intersexuality: evaluation of medical records and the patients' perspective.

INTRODUCTION: Until now, there are only few studies that focus on the specific treatment experiences of people with intersexuality and evaluate their outcome in terms of psychological, physical, and social well-being. Further, the presentation of the patients' perspective is often neglected in research. AIM: Overview of preliminary results of the Hamburg-Intersex-Study on gender assignment and medical history of adult subjects with intersexuality (disorders of sex development), as well as the patients retrospectively stated thoughts and feelings regarding these interventions. MAIN OUTCOME MEASURES: Medical records from participants of the study were analyzed. The subjective attitudes and evaluation of the treatment measures were assessed with a self-constructed questionnaire. Data on psychological well-being were measured with the Brief Symptom Inventory. METHODS: In total, 37 adult participants (mean age 30.6 years) with following diagnosis were included: congenital adrenal hyperplasia, complete and partial androgen insensitivity syndrome, gonadal dysgenesis and disturbances of the androgen biosynthesis, such as 5 alpha reductase deficiency and 17 beta hydroxysteroid deficiency. RESULTS: The majority of participants had (often multiple) genital surgery to correct the appearance of their genitalia and/or to enable sexual functioning. The diagnostic groups differ not only in amount and invasiveness of experienced surgical and medical treatment but also in the subjective and retrospective evaluation of the treatment measures and in the amount of reported psychological distress. CONCLUSION: Many subjects stated to have experienced the medical procedures and care very negatively, whereby the aspects of secrecy, untruthfulness, and concealment were stated as most difficult and burdening.

Surgical, medical and psychological dilemmas of sex reassignment: report of a 46,XY patient assigned female at birth.

This is a report of a 16 year-old 46,XY male who was reassigned female and had feminizing surgery during infancy because of what was judged to be inadequate genital masculinization. This patient had a dysgenetic testis that was shown to be producing testosterone during infancy. Although initially the reassignment appeared to be successful, psychological problems became progressively more severe during childhood to incapacitation by age 10 years. After it was verified that he had a male sexual identity, reassignment as male began, initially by living as a boy, then with testosterone therapy. Staged phalloplasty surgery was begun at age 16 years. Currently he has an adult-sized penis, although its function is not yet clear. Sadly, none of the steps to align his sex assignment to his perception as male has significantly alleviated his psychological issues and he continues to be severely impaired and socially compromised. Major issues include the crippling psychiatric disease that is resistant to psychotherapy and surgical problems with phalloplasty after surgery at infancy that involved reduction of the phallus with recession of the glans to the typical clitoral location. The glans was left intact at the anterior base of the phallus. Genital responsiveness during sexual activity and satisfaction are as yet unknown.

Genital ambiguity with a Y chromosome: does gender assignment matter?

Recommendations for sex of rearing in newborns with genital ambiguity, testicular differentiation and a Y chromosome continue to be challenging. Complaints from former patients have forced those providing the medical, surgical and psychological care for these individuals to reassess evaluation and treatment strategies. In this paper, the histories of six patients born with genital ambiguity and at least partial testicular differentiation with a karyotype containing a Y chromosome are presented. Three of these patients were assigned as males and three as females. The factors involved in these individuals' adaptation to the assigned gender and their subsequent quality of life are discussed. Factors needing further study, including the parents' ability to accept and support the sex of rearing, the child's temperament, associated psychological disorders, and other influences, such as masculinization of the central nervous system, are highlighted.

[Intersex: which gender should be chosen?]. / Intersex: hvilket køn skal vaelges?

A newborn infant with ambiguous genitalia is a medical emergency, and the choice of gender must take into account both the chromosomal and the gonadal sex, the hormonal milieu during fetal life, surgical aspects, the anatomy of the internal genitalia, as well as the prospects for future fertility, normal psychosexual development, and sexual function as an adult. Counselling requires paediatric endocrine, surgical, and psychological expertise, but the lack of knowledge of the long-term consequences of an intersex condition hampers rational treatment. It has long been customary to assign the child a female gender, whereas recent research points to a choice of a gender compatible with the chromosomal sex, if at all possible. This article reviews our knowledge in this field.

[Disorder of gender identity in a child with asymmetric gonadal dysgenesis with complex karyotype abnormality]. / Trouble de l'identité de genre chez une enfant porteuse d'une dysgénésie gonadique asymétrique avec anomalie caryotypique complexe.

BACKGROUND: Gender identity is influenced by genetic and hormonal factors and also by the sex of rearing. CASE REPORT: A child was born with ambiguous genitalia. Male sex assignment was made. Hypospadias and left inguinal hernia were present. The hernial sac contained an ovarian tissue. Plasma testosterone, 17-OH progesterone, cortisone levels were normal as were basal FSH and LH levels. There was a vagina but no uterus. The karyotype showed 45X/46XY mosaicism. The testis in the right scrotum was removed and vulvoplasty was performed at the age of 10 months; the patient was than raised as a female. Several courses of reconstructive genital surgery were necessary between 1 and 8 years of age. The girl suffered from trichotillomania and sleep disorders from the age of 4 years and learning difficulties and social phobia from the age of 8. When 11.5 years-old, she had clinical features of Turner's syndrome, was depressive but appeared to prefer male playmates. CONCLUSION: Two mechanisms may explain alterations in gender identity in this patient with asymmetric gonadal dysgenesis; 1) early and prolonged androgen exposure as seen in patients with congenital adrenal hyperplasia; 2) insufficient counselling with parents regarding questions of gender identity.

Psychological aspects in anonymous and non-anonymous oocyte donation.

A study, in which 110 patients were screened by a psychoanalyst, included 69 recipients who chose non-anonymous oocyte donation, i.e. they received oocytes from a known donor, most frequently a sister or a close relative. Another 41 recipients received anonymous oocytes, but had to bring a donor. Psychological motivations for either choice are reported, and significant topics such as attitudes towards confidentiality and links to the child are compared. No specific psychopathology is reported at this stage. An additional study on children born by these techniques is ongoing.

Psychological considerations of anonymous oocyte donation.

This study involved 50 patients interviewed in conversations with a psychologist. It was found that it was possible to characterize the kind of couples using assisted reproductive techniques in terms of diagnostic and psychological profile. Other observations included the repercussions of this action on the couples' stability in case of failure or success, the desire for children and the plans concerning them, the secrecy theme and questions arising from the practice of anonymous or non-anonymous oocyte donation. The relationship between recipients and donors, as well as the specific relationship between couples and their consultants, were also examined. It is concluded that the problems encountered differ according to the infertility diagnosis. Donor anonymity allows oocyte recipients to impose their own identity patterns onto the future child and to introduce him/her in an unbiased way to their own lives. Artificial techniques to assist in the conception of a child do not appear to interfere with the couple's relationship and their desire for a child, which remains constant for each member of the couple.

Social, educational and vocational status of 48 young adult females with gonadal dysgenesis.

OBJECTIVE: The purpose of this study was to evaluate the educational, vocational and social function of young adults with gonadal dysgenesis. DESIGN: Forty-eight female patients with gonadal dysgenesis (17, 45XO; 26, 45XO/46XX or other mosaics; and five pure gonadal dysgenesis) followed by our multidisciplinary team from childhood, were re-evaluated in adult age. RESULTS: Mean age +/- SD at diagnosis was 11.4 +/- 5.0 years and mean age at the time of survey was 29.6 +/- 6.3 years. The mean final height for the patients was 145.5 +/- 8.3 cm (range 134-170 cm). Mean verbal IQ (WISC-R) for the 39 subjects tested was 101.4 +/- 20.7 and mean performance IQ was 86.8 +/- 17.7. No difference in verbal IQ levels was found between the various karyotype groups. Twenty-five had an academic education. All were employed except for one housewife; 37 work in white collar professions. A significant correlation was found between verbal IQ and education (P = 0.005) and between verbal IQ and profession (P = 0.005). Twenty-three served in the army. Fourteen are married: three have an adopted child and two a child born after in vitro fertilization (IVF); others are waiting for IVF or adoption. Five patients had some form of psychiatric problem that required psychiatric or psychological treatment in the past (two had transitory anorexia nervosa and three behavioural problems). Sixty-three per cent reported having wide and satisfactory social relations but limited to female friends. CONCLUSION: Positive adjustment in the professional area and fair adjustment in the social area were not related to physical stigmata or to any other independent variable tested, but rather to intellectual ability and a high degree of achievement motivation.

Small penis and the male sexual role.

We interviewed and examined 20 patients with the primary diagnosis of micropenis in infancy. The patients were divided into 2 groups: 8 prepubertal (10 to 13 years old) and 12 postpubertal (17 to 43 years old). All but 1 had been given human chorionic gonadotropin, testosterone or cortisone during childhood. Only 1 child in the prepubertal group had a stretched penile length above the 10th percentile. All postpubertal patients were below the 10th percentile. Puberty was delayed in only 2 patients in the older group. All patients were heterosexual and they had erections and orgasms. Eleven patients had ejaculations, 9 were sexually active and reported vaginal penetration, 7 were married or cohabiting and 1 had fathered a child.

Sexual development and life of women with gonadal dysgenesis.

The sexual development and behavior of 37 women suffering from the gonadal dysgenesis syndrome were investigated. It was found that their sexual development was significantly retarded compared with a control group of 50 fertile patients of the same age. This retardation was greater in a subgroup of 19 women with the Turner syndrome than in a subgroup of 18 women with pure gonadal dysgenesis. The levels of gonadotrophins LH and FSH, estradiol, progesterone and testosterone in blood were similar in these two subgroups. In two-thirds of the gonadal dysgenesis syndrome patients, the estradiol level was mostly at the low end of normal. The assessment of their sexual life using the Sexual Activity of Women (SAW) and Sexual Function of Women (SFW) questionnaires indicated a lower sexual desire, a reduced orgastic capacity, and a weaker sexual activity in the pathological group. However, 24 patients living in a permanent and stable partner relationship at the time of the examination, did not significantly differ from the control group in their responses to the SFW questionnaire. The patients with gonadal dysgenesis syndrome were surprisingly well adapted to their shortcomings. The occurrence and intensity of most neurotic symptoms assessed by the N5 Questionnaire were scored lower by the patients with gonadal dysgenesis syndrome than by the control group.

The social interactions of adult conspecifics with an adult XY gonadal dysgenetic chacma baboon (Papio ursinus).

Two separate behavioral studies on an XY gonadal dysgenetic chacma baboon were carried out. In the first experiment the focal subject was treated identically as the control females by her adult male test partners. In contrast to the controls in this experiment the dysgenetic animal reciprocated the agonistic behaviors directed by the males toward her. In the second study intact and castrated males as well as ovariectomized females served as controls for the dysgenetic subject in tests with ovariectomized adult females. The stimulus females presented more to both classes of males than either the subject females or the gonadal dysgenetic individual, suggesting that the focal subject was treated by other female conspecifics as a female.