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2018-09-24

Familial Swyer syndrome: a rare genetic entity.

Gynecol Endocrinol. 2018 May;34(5):389-393. doi: 10.1080/09513590.2017.1393662. Epub 2017 Oct 26.

Familial Swyer syndrome: a rare genetic entity.

Banoth M1, Naru RR1, Inamdar MB1, Chowhan AK2.

Author information インド

Abstract

Swyer syndrome is a pure gonadal dysgenesis associated with a 46 XY karyotype and primary amenorrhea in a phenotypic female. Individuals in this syndrome are at an increased risk for development of gonadal malignancies. Swyer syndrome (gonadal dysgenesis) running in families is rare event and few such scenarios were reported in the literature. Here we are presenting this rare entity involving three affected siblings born to a non-consanguineous couple. Index case - A 23-year-old female with primary amenorrhea is presented with a mass per abdomen. The clinical findings and laboratory investigations revealed hypergonadotropic hypogonadism picture and, imaging revealed a left ovarian tumor. Primary surgical debulking of ovarian cancer was done, histopathology of which revealed a dysgerminoma FIGO stage IIIC. The family history of the patient revealed a similar pattern as the elder sister had primary amenorrhea and had succumbed to ovarian cancer and the younger sister also has primary amenorrhea. Karyotype of all the three patients revealed a male genotype with a female phenotype. The early diagnosis of the patients with Swyer syndrome is very important because of the increased risk for the development of malignancy. This is a rare event to have two sisters with ovarian cancers in three siblings affected with familial gonadal dysgenesis syndrome each of them having a different genotype and first of its kind to ever be reported in literature.

KEYWORDS:
Familial Swyer syndrome; dysgerminoma; karyotype; primary amenorrhea; surgical debulking

遺伝性が確認されていないスワイヤー女性の3姉妹

2018-02-09

'You have all those emotions inside that you cannot show because of what they will cause': Disclosing the absence of one's uterus and vagina.

’You have all those emotions inside that you cannot show because of what they will cause’: Disclosing the absence of one’s uterus and vagina.

Soc Sci Med. 2016 10;167:63-70

Authors: Guntram L, Zeiler K

Highlights

•Details narratives about 'coming out’ with ‘atypical’ sex development in Sweden.
•Draws attention to accomplishments of affective dissonances in such narratives.
•Demonstrates intersubjective, affective and temporal dimensions of coming-out.
•Makes a unique contribution to social scientific research on intersex/DSD.
•Contributes with further contextualization to studies on coming-out


Abstract

This article examines young women's experiences of telling others that they have no uterus and no, or a so-called small, vagina - a condition labelled 'congenital absence of uterus and vagina', which falls within the larger category of 'atypical' sex development. Our aim is to investigate how affective dissonances such as fear and frustration are expressed in young women's narratives about letting others know about their 'atypical' sex development, and how these women narrate desired steps to recognition. By drawing on feminist writings on the performativity of affects or emotions, we examine what affective dissonances accomplish within three identified narratives: how affective dissonances may contribute to the women's positioning of themselves vis-à-vis other individuals and how affective dissonances can imply a strengthening and/or questioning of norms about female embodiment and heterosexuality. This allows us to tease out how routes for questioning of these norms become available through the three narratives that together form a storyline of coming out about a congenital absence of a uterus and vagina in the Swedish context. Furthermore, by demonstrating how others' responses shape the women - their understandings of their own bodies, their envisaged future disclosures and their relations - our analysis highlights the multifaceted intersubjective and in other ways relational, affective and temporal dimensions of coming out about one's 'atypical' sex development.

dissonance:不一致,不調和,不協和音
vis-a-vis:向かい合う人,相手

2017-11-25

Morbidity, mortality, and socioeconomics in females with 46,XY disorders of sex development: a nationwide study.

Morbidity, mortality, and socioeconomics in females with 46,XY disorders of sex development: a nationwide study.

J Clin Endocrinol Metab. 2017 Nov 20;:

Authors: Berglund A, Johannsen TH, Stochholm K, Viuff MH, Fedder J, Main KM, Gravholt CH

Abstract

Context: Little is known about long-term health outcomes in phenotypic females with 46,XY disorders of sex development (XY females) and the socioeconomic profile is not described in detail.

Objective: To describe morbidity, mortality and socioeconomic status in XY females in a comparison to the general population.

Design: A nationwide registry study with complete follow-up.

Setting: A uniform public health care system.

Patients or other participants: 123 XY females karyotyped in Denmark during 1960-2012 and a randomly selected age-matched control cohort of 12,300 females and 12,300 males from the general population.

Interventions: None.

Main outcome measures: combined mortality and morbidity as well as chapter-specific morbidity. Medicinal use and socioeconomic profile, including education, cohabitation and retirement.

Results: Compared to female controls overall morbidity was increased in XY females (HR=1.72, CI: 1.43-2.08) but not when disregarding diagnostic chapters associated with either the specific DSD diagnosis or pregnancy and birth (HR=1.13, CI: 0.93-1.37). Mortality was similar to controls (HR=0.79, CI: 0.35-1.77). Cohabitation (HR=0.44, CI: 0.33-0.58) and motherhood (HR=0.10, CI=0.05-0.18) were reduced in XY females but educational level (HR=0.92, CI: 0.61-1.37) was similar to controls. Income diverged during life with XY females having respectively a lower and higher income in the younger and older years.

Conclusions: Morbidity was not increased in XY females when disregarding diagnoses closely related to the DSD condition. Judged on educational level and income XY females perform well on the labor market. However, DSD seems to impact on the prospects of family life.​

2017-09-07

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

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

J Psychosom Res. 2017 Aug 08;101:122-127

Authors: Engberg H, Strandqvist A, Nordenström A, Butwicka A, Nordenskjöld A, Hirschberg AL, Frisén L

Abstract

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.

CAIS,完全型性腺未形成の女性は,85%が少なくとも1つの精神障害(うつ,不安障害の率が高い)を持っている。(そりゃそうでしょ)

2015-12-09

"It's part of me, not all of me": Young women's experiences of receiving a diagnosis related to diverse sex development.

”It’s part of me, not all of me”: Young women’s experiences of receiving a diagnosis related to diverse sex development.

J Pediatr Adolesc Gynecol. 2015 Nov 27;

Authors: Lundberg T, Roen K, Hirschberg AL, Frisén L

Abstract

Study Objective

To understand young women’s experiences of receiving a diagnosis related to diverse sex development (DSD)

Design

A qualitative narrative analysis of interviews.

Setting

Karolinska University Hospital.

Participants

Nine women (aged 20-26) with complete androgen insensitivity syndrome, XY or XX gonadal dysgenesis. Interventions: Semi-structured interviews.

Main Outcome Measure(s)

A narrative approach was used to analyze the interviews. This involved identifying individual narratives of receiving the diagnosis, as well as identifying key issues that were common across interviews.

Results

The analysis shows how participants’ pre-diagnosis life experiences frame how medical information is perceived upon diagnosis. All participants had been informed about their condition before the study, but not all remembered the name of their diagnosis. Participants described positive characteristics of health professionals, such as being flexible and able to adapt to patients’ individual needs. Clinicians’ strategies, such as normalizing patients’ experiences, were usually perceived as supportive, but were not always considered helpful. After the diagnosis, participants were worried about potential social, practical and philosophical issues.

Conclusions

This research highlights the importance of clinicians taking an exploratory and individualized approach to the sensitive process of disclosing a DSD-diagnosis to young adults. There are various strategies health professionals can use that might help young people to develop their knowledge about their condition: (i) repeating information to help the patient remember, (ii) using language that is not too medicalized, and (iii) communicating in a way that is meaningfully connected to patients’ everyday lives.


Where the study was undertaken

This research was conducted at the Women’s Health Research Unit at Karolinska University Hospital in Stockholm, Sweden.

Financial support from the Swedish Research Council, No 523-2011-3807(LF), No 20324-07-5 (ALH), the Karolinska Institutet Foundation (LF, ALH), and the Magn. Bergvall Foundation (LF).