Challenges in Disorders of Sex Development (DSD)
What Specialized Centers,
Societies and Networks Can Provide
Hüseyin ÖZBEY
Department of Pediatric Surgery
Division of Pediatric Urology
Istanbul Medical Faculty
Istanbul University
www.dsdturk.org
TERMINOLOGY
“HERMAPHRODITISM”
“AMBIGUOUS GENITALIA”
“INTERSEX”
“DISORDERS OF SEX DEVELOPMENT” (DSD)
“DIFFERENCES OF SEX DEVELOPMENT” (DSD)
Disorders of Sex Development
(DSD)
Congenital conditions with a mismatch of;
genetic,
gonadal,
anatomical,
psychological SEX
“ATYPICAL SEX”
Sexual difference
The most characteristic difference of
HUMAN BODY
external genitalia
Sexual difference
The most characteristic difference of
HUMAN BEHAVIOR
gender identity & sexual orientation
affected by the
external genitalia!
One in 300 - 4500 infants is born with abnormalities of the external genitalia
DSD
DIFFERENCES OF SEXUAL DEVELOPMENT
wide range of variations from the statistically normal
DISORDERS OF SEXUAL DEVELOPMENT
need medical/surgical intervention





XY-DSD
XX-DSD
Ovotesticular-DSD
XX-male
XY-female (gonadal dysgenesis)
M. Caster SEMENYA (born 7 January 1991)
South African runner and world champion
Won gold in 800 metres at the 2009 World Championships
Subjected to "gender testing“
Underwent gender verification
Erik Schinegger (born 19 June 1948)
Austrian skier and world champion in 1966
raised as female (Erika Schinegger)
subjected to “gender testing”
diagnosed as XY
went under gender re-assignment & married, became a father
Satiye’s fight for maleness (26)
Now, his name is İsmail (25)
(Milliyet, September 4, 2005)
Hürriyet, December 30, 2009
Examples of external genitalia
in patients with DSD
CAH-E.K.
CAH
Examples of external genitalia
in patients with DSD
CAH-B.T.
5AR-D.A.
Examples of external genitalia
in patients with DSD
XX-male, M.G.
17BHSD-G.L.
Examples of internal & external genitalia
in patients with DSD
CAIS-C.E.
Crossed testicular ectopia&PMD-A.A.G
Sexual & behavioral differentiation
Biologic sex
 chromosomes & genes & gonadal histology
 hormones & enzymes & factors & receptors
Gender
 Gender identity
(pre-postnatal hormonal effects; how a person views oneself as
male (man) or female (woman), or (DSD)
 Gender role - behavior - orientation
(play, wear, job, sports, physical agression etc; how a person is
viewed by other members of society as masculine or feminine,
and their erotic behavior)
Genetic & Gonadal sex determination
 Sex determining genes on the sex chromosomes
– SRY
– DAX1
- Yp11.3
- Xp21.3
 Sex determining genes on the autosomes
–
–
–
–
–
SOX9
DMRT1
SF1
WT1
Wnt4
-
17q24
9p24.3
9q33
11p13
1p35
More genes to be identified...
to date, in about half of all patients with DSD can be genetically explained!
Problems with DSD
 Sex of rearing
 Metabolic conditions
 Sexual function
 Fertility
 Risk of tumor development
 Gender panic!
Gender panic:
the fear of the “possibility of homosexuality” by the parents of children
with “ambiguous genitalia”!
DSD management
 Experienced & consulting multidisciplinary team
(endocrinology, psychiatry&psychology, genetics, radiology, surgery)
 Laboratory
(chromosomal analysis, SRY, molecular genetics, hormones, MIF, inhibinB, radiology, surgery, pathology)
 Follow-up and good communication
(by each specialist)
DSD Surgery
EARLY (within the first year)
LATE
(after puberty)
Goals of DSD surgery



esthetic and gender-typical appearance
un-obstructed urinary emptying without
incontinence or infections
good adult sexual and reproductive function
DSD Surgery
major (sacrifying) / minor (normalising)
masculinizing
feminizing
orchidopexy
urethroplasty
removal of Müllerian ducts
gonadectomy
clitoroplasty
vaginoplasty



impaired body - genital image
emotional trauma & ego loss
infertility
Urethroplasty (hypospadias)
preoperative
postoperative
Urethroplasty (hypospadias)
preoperative
postoperative
Urethroplasty (hypospadias)
preoperative
postoperative
Urethroplasty & MD removal
XX-male M.G.
preoperative
postoperative
Clitoroplasty & gonadectomy
17BHSD-G.L.
preoperative
postoperative
Gonadectomy
PAIS-
Clitoro-vaginoplasty (CAH)
preoperative
postoperative
Informed consent for surgery
Do parents have the authority to consent
to genital normalizing and sex assignment surgery
on behalf of their infants?
the only person without consent is
the patient himself or herself!
Ethical ! ?
Legal !?
Diagnostic and long term treatment
problems in DSD
Unique challenge!
 Definition of the illness/situation
 Small sample sizes
 Lack of laboratory studies & experienced researcher
 Lack of accurate diagnosis
•Genetic, clinical, neurological, psychosocial
 Lack of experienced surgeon
 Fertility issues
Clinical problems in DSD
Lack of experienced care provider!
 a different physician & new diagnosis
 additional and/or unnecessary laboratory analyses
 increased parental distress
LIMITED TIME FOR CLINICAL AND
LABORATORY EVALUATION
DELAYED GENDER ASSIGNMENT!
Clinical problems in DSD
non-educated parents !
Disclosure of diagnosis
 needs strict confidence
Decision making process
 (child) & family concerns
 informed consent
 psycosocial inquiry
some parents consult and get informed
some parents just let the situation be as doctors’ wishes


Decision-making
& therapy-planning process
 Multidisciplinary health-care team
 Good communication & collaboration
 Each case must be considered individually!
Parents must have understood the planned
interventions, their significance
Cultural effects in DSD
Attitudes towards sex of rearing
in late (&early!) diagnosed patients with DSD
in Eastern countries are very different from those in
Western countries!
46,XX “male” - CAH
It is extremely difficult to correct the gender of patients with f-CAH when they
present at >2.5 years of age
Gender assignment in female congenital adrenal hyperplasia:
a difficult experience Özbey H, et al BJU Int. 2004 Aug;94(3):388-91
male offspring
 traditional breadwinner
 responsible for parental care
 carries family property (consanguinous marriage!)
 fear of social ridicule
In eastern countries, cultural, economic and social factors
are more important than sexual potential!
DSD Societies & Support Groups
www.isna.org
www.ukia.co.uk
www.xy-frauen.de
AGS-Eltern- und Patienteninitiative e.V. www.ags-initiative.de
www.bodieslikeours.org
AISSG: Androgen Insensitivity Support Group
www.aissg.org
www.heainfo.org
www.sindromedimorris.org
DSD Societies & Support Groups
Support groups
Lübeck 2011
Support groups
London 2011
DSD Networks
www.orpha.net
www.eurocat-network.eu
www.eurodsd.eu
www.netzwerk-is.de
EuroDSD - consortium
BHAM - The University of Birmingham
CAU-Christian-Albrechts-Universität zu Kiel
EUR- Erasmus Universitair Medisch Centrum,
Rotterdam
GABO:mi- GABO:milliarium mbH & Co. KG, München
HCL-Hospices Civils de Lyon
IPP-Institut Pasteur, Paris
KI- Karolinska Institutet, Stockholm
UCAM PAED - University of Cambridge
UCL-University College London
UNIPI- University of Pisa
UOG- University of Glasgow
UZL - Universität zu Lübeck
WWU Muenster
EuroDSD
What Specialized Centers,
Societies and Networks Can Provide ?
 National & International
 Clinical - Research Networks & Experts
 Collaboration with sharing
•Data
•Information
•Experience
What Specialized Centers,
Societies and Networks Can Provide ?
 rapid clinical & laboratory evaluation
 early diagnosis
 peer support ends isolation and stigmatization
 increased experience & quality care
 help to find the best quality care
INTERSEX
One-day Symposium
May 1, 2006
Istanbul
www.dsdturk.org
Milton Diamond, Professor
University of Hawaii, John A Burns School of Medicine
Pacific Center for Sex and Society
Honolulu, Hawaii, USA
Heino FL Meyer-Bahlburg, Professor
NY State Psychiatric Institute
Columbia University, New York, USA
dsdturk
www.dsdturk.org
Cinsel Gelişim ve Hipospadiyas Derneği
Sexual Development and Hypospadias Association