Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

BMC Endocr Disord. 2017; 17: 52.
Published online 2017 Aug 18. doi: 10.1186/s12902-017-0198-y

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

Robert Röhle,1 Katharina Gehrmann,2 Maria Szarras-Czapnik,8 Hedi Claahsen-van der Grinten,4 Catherine Pienkowski,7 Claire Bouvattier,3 Peggy Cohen-Kettenis,5 Anna Nordenström,6 Ute Thyen,9 Birgit Köhler,corresponding author2 and on behalf of the dsd-LIFE group



dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality.


The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants’ views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes. In addition, ethical considerations in the field of DSD are addressed and previous experiences with health care were gathered. One thousand and forty participants with different DSD conditions were recruited by 14 study centres in 6 European countries (France, Germany, the Netherlands, Poland, Sweden and the United Kingdom) from February 2014 until September 2015. The conditions included were: Turner syndrome (n = 301); 45,X0/46,XY conditions (n = 45); Klinefelter syndrome (n = 218); 47,XYY (n = 1); 46,XY gonadal dysgenesis/ovotestes (n = 63); complete androgen insensitivity (CAIS) (n = 71); partial androgen insensitivity (PAIS) (n = 35) and androgen synthesis disorders (n = 20); severe hypospadias (n = 25); other or non-classified 46,XY DSD (n = 8); 46,XX congenital adrenal hyperplasia (CAH) (n = 226); 46,XX gonadal dysgenesis/ovotestis (n = 21); and 46,XX in males (n = 6). For an add-on study, 121 46,XY male-assigned individuals with CAH due to 21-hydroxylase deficiency were recruited. Mean age of participants’ was 32.4 (+/− 13.6 years).


Participation was high in conditions not commonly described as DSD, such as Turner and Klinefelter syndromes or CAH. Recruitment of individuals with XY DSD conditions proved to be more difficult. The data collection of PROs resulted in high data quality. Within medical and physical examination data, more missings and/or inaccurate data were found than expected. The European dsd-LIFE study recruited and evaluated the largest cross-sectional sample of individuals with different conditions classified under the term DSD. The data from this large sample will provide a sufficient basis for evidence-based recommendations for improvement of clinical care of individuals affected by a DSD condition.

Trial registration
German Clinical Trials Register DRKS00006072.

Keywords: Disorders of sex development, Differences of sex development, DSD, Sexual differentiation, Interdisciplinary care, European network


Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop.

Sex Dev. 2018 Jun 23.

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop.

Sanders C, Hall J, Sanders C, Dessens A, Bryce J, Callens N, Cools M, Kourime M, Kyriakou A, Springer A, Audi L, Balsamo A, Iotova V, Mladenov V, Krawczynski M, Nordenskjöld A, Rozas M, Claahsen-van der Grinten H, Hiort O, Riedl S, Ahmed SF.


The level of connection between health care professionals and people who experience a condition that affects sex development is variable. These people and associated support groups need to be included in discussions about research and healthcare delivery. The aim of this study was to understand the experiences of individuals with disorders of sexual development (DSD), their parents, health care providers, and support groups. Workshop planning, preparation, delivery, and evaluation involved members of working groups from the COST Action DSDnet. A coordinator, in collaboration with a support group representative, led the workshop design and delivery. Our successful, facilitated workshop involved 33 attendees from 8 EU countries. The workshop provided individuals with DSD, parents, advisory groups, and professionals with an opportunity for shared learning. Outputs focused on 7 key areas, including diagnosis, childhood, and transition to adult care as well as fostering discussion around registries, future research topics, consent processes, and information needs across the life course. The importance of trustworthy and knowledgeable providers, time to understand such rare conditions, and the place support groups have in a life course approach were valuable learning points for all attendees. In conclusion, workshops can be designed and delivered in meaningful ways for all those involved in care of individuals with rare conditions.


Caring for individuals with a difference of sex development (DSD): a Consensus Statement


Caring for individuals with a difference of sex development (DSD): a Consensus Statement

Martine Cools, Anna Nordenstrom, Ralitsa Robeva, Joanne Hall, Puck Westerveld, Christa Fluck, Birgit Kohler, Marta Berra, Alexander Springer, Katinka Schweizer & Vickie Pasterski on behalf of the COST Action BM1303 working group 1

Nature Reviews Endocrinology volume 14, (2018)


The term differences of sex development (DSDs; also known as disorders of sex development) refers to a heterogeneous group of congenital conditions affecting human sex determination and differentiation. Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of nomenclature and management a decade ago. Whereas the resulting recommendations for holistic, multidisciplinary care seem to have been implemented rapidly in specialized paediatric services around the world, adolescents often experience difficulties in finding access to expert adult care and gradually or abruptly cease medical follow-up. Many adults with a DSD have health-related questions that remain unanswered owing to a lack of evidence pertaining to the natural evolution of the various conditions in later life stages. This Consensus Statement, developed by a European multidisciplinary group of experts, including patient representatives, summarizes evidence-based and experience-based recommendations for lifelong care and data collection in individuals with a DSD across ages and highlights clinical research priorities. By doing so, we hope to contribute to improving understanding and management of these conditions by involved medical professionals. In addition, we hope to give impetus to multicentre studies that will shed light on outcomes and comorbidities of DSD conditions across the lifespan.



Government calls for evidence on people who have Variations in Sex Characteristics

Press release

Government calls for evidence on people who have Variations in Sex Characteristics

Today (17 January 2019) the Government Equalities Office is launching a call for evidence on the experiences of people who have variations in sex characteristics.
Published 17 January 2019

Government Equalities Office and Baroness Williams of Trafford

Call for evidence banner

Variations in sex characteristics (VSC), sometimes referred to as ‘intersex’ or ‘differences in sex development’, is an umbrella term used to describe physical sex development which differs from what is generally expected of males or females. These variations are present from birth and may be chromosomal, gonadal, anatomical or hormonal.

Depending on the individual case, these differences may be visible at birth or untraceable until puberty, or even later in life. Research from clinical experts suggests the ‘number of people born with atypical genitalia may be as high as 1 in 300 births, but the birth prevalence of a condition that may lead to true genital ambiguity on expert examination may be as low as 1 in 5000 births.’

The call for evidence is designed for VSC individuals, their parents, carers, and legal guardians, and professionals and service providers to share their views and experiences on:

Terminology – the terms people prefer using to describe having variations in sex characteristics
Healthcare – how decisions are made around medical interventions and how healthcare services could be improved
Education – how people with variations in sex characteristics experience school and how the education system could be improved
Support services – what support, if any, affected individuals and their families receive and how support services could be improved
Issues faced in day to day life – people’s experiences of being in the workplace, of claiming benefits and using sport and leisure services
Sex assignment, birth registration and correcting birth certificates – whether people have changed their birth certificate if the sex was incorrectly assigned at birth and parent’s experiences of registering a child’s birth
Any other issues they have faced and want to raise

The Government Equalities Office has heard from people who had poor experiences when using the healthcare system 20-40 years ago. This included people who struggled to access their medical records and people who did not have access to a psychologist. Reflecting on their experiences, they reported that a psychologist could have helped them make informed decisions about the medical interventions they had undergone at the time.

Some young people have also had to take regular time off from school to attend medical appointments, are unable to fully participate in school activities and require psychosocial support to understand how and why their bodies develop differently to their peers.

Minister for Equalities Baroness Williams said:

“It is concerning to think that people in the UK may be afraid to visit the doctor or feel unable to take part at school because they are not receiving the support they need or deserve.

“Everyone in this country has a right to an education, healthcare and to go about their daily life without intrusion or fear of humiliation.

“This call for evidence is a chance for us to learn more about people’s everyday lives, and I look forward to hearing more about their experiences.”

Kaz Williams, adult support co-ordinator at UK Congenital Adrenal Hyperplasia Support Group, said:

“The UK CAH Support Group is happy to be working with the Government Equalities Office on the Variations in Sex Characteristics call for evidence. We believe this is a positive step forward towards the Government gaining greater understanding and insight into the experiences and needs of children, young people and adults living with a variation in sex characteristics and their families.”

Ellie Magritte, founder of dsdfamilies:

“We at dsdfamilies are delighted that the GEO want to hear directly from young people (aged 16+) and their families about the impact of having different sex development. We are impressed and encouraged by the breadth of topics covered in this call for evidence. Our recent consultations with children and families highlighted their needs relating to support and information, as well as for improvements in levels of understanding throughout health care and wider society. As this is the first time the Government has looked at these issues, we hope this call for evidence will lead to actual changes for children and families and we encourage people to respond.”

Valentino Vecchietti, academic and campaigner:

“As a leading figure in the UK intersex movement, I welcome the UK Government’s call for evidence. It is much needed, and I fully support their intention to seek a greater understanding of the experiences and needs of our varied community.”

The call for evidence will run for 10 weeks from 17 Jan to 28 March 2019 and is open to anyone to respond. The government is working closely with support and advocacy organisations, campaigners, academics and clinicians to raise awareness and understand people’s experiences.

Notes to editors:

The call for evidence can be found here.

Anyone can respond to the call for evidence.

Population stats – Ahmed, S. F. et al. (2016) Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Ahmed, S.F., Dobbie, R., Finlayson, A.R. et al. (2004) Regional & temporal variation in the occurrence of genital anomalies amongst singleton births, 1988–1997 Scotland. Archives of Disease Childhood, 89, F149–F151. Thyen, U., Lanz, K., Holterhus, P.M. et al. (2006) Epidemiology and initial management of ambiguous genitalia at birth in Germany. Hormone Research, 66, 195–203.


Differences of Sex Development (DSD): Controversies and Challenges

Ann Endocrinol (Paris). 2018 Sep;79 Suppl 1:S22-S30. doi: 10.1016/S0003-4266(18)31235-6.

Differences of Sex Development (DSD): Controversies and Challenges

Bessne L1, Lombs M2, Bouvattier C3.

Author information フランス


DSD for "Differences of Sex Development" or "Sexual Differences Development" refers to situations where chromosomal, gonadal or anatomical sex is atypical. DSD 46,XX are mainly represented by congenital adrenal hyperplasia (HCS) and are not a diagnostic issue. DSD 46,XY involve genes for the determination and differenciation of the bipotential gonad, making sometimes difficult the choice of sex at birth. They remain without diagnosis in about half of the cases, despite the new genetic techniques (exome, NGS). The management of DSD is complex as well as are the long-term consequences, particularly in terms of options for medical or surgical treatments, fertility and quality of life of patients that should be discussed. This review describes the main causes of DSD and the recent issues of their clinical management. It addresses the difficult question of identity of these patients, in a society that leaves no place for difference.

Chirurgie; Clitoris; Ethics; Fertility; Fertilité; Hypospade; Hypospadias; Quality of life; Qualité de vie; Surgery; Éthique


Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development.

J Clin Endocrinol Metab. 2018 Nov 1. doi: 10.1210/jc.2018-01866. [Epub ahead of print]

Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development.

Batista RL1, Inácio M2, Arnhold IJP1, Gomes NL1, Faria JA Jr1, de Moraes DR1, Costa EMF1, Domenice S1, de Mendonca BB1.

Author information ブラジル



In 46,XY DSD patients, several factors may affect psychosexual development, leading to gender identity discrepancy and gender change later in life. Prenatal sexual steroid exposure and external genital virilization are considered to influence human psychosexual development, but it is not completely understood yet.


A total of 144 individuals (18-60 years) with a clinical/molecular diagnosis of 46,XY DSD from a single tertiary center were enrolled. Psychosexual outcomes (gender role, gender identity, and sexual orientation) were assessed using questionnaires and psychological test. The Sinnecker score was used for genital virilization measurement. Prenatal androgen exposure was estimated according to 46,XY DSD etiology.


We found a positive association between prenatal androgen exposure and male psychosexual outcomes. On the other hand, prenatal estrogen exposure, age of gonadectomy, and the degree of external genital virilization did not influence any psychosexual outcome. There was 19% (n = 27) of gender change, which was associated with prenatal androgen exposure (p < 0.001) but not with the external genitalia virilization. The median age of gender change was 15 years, but most of the patients reported the desire for gender change earlier.


Prenatal androgen exposure influenced psychosexual development in 46,XY DSD favoring male psychosexuality in all psychosexual outcomes, while the degree of external genital virilization did not influence these outcomes. The organizational effect of sexual steroids on psychosexuality at puberty appears to be weak in comparison with the prenatal effects. Prenatal androgen exposure also influenced on female-to-male gender change frequency. All 46,XY DSD conditions with prenatal androgen exposure must be following for gender issues in their management.