TY - JOUR
T1 - Histological Assessment of Gonads in DSD
T2 - Relevance for Clinical Management
AU - Spoor, Johannes A
AU - Oosterhuis, J Wolter
AU - Hersmus, Remko
AU - Biermann, Katharina
AU - Wolffenbuttel, Katja P
AU - Cools, Martine
AU - Kazmi, Zainab
AU - Ahmed, Syed F
AU - Looijenga, Leendert H J
N1 - © 2017 S. Karger AG, Basel.
PY - 2018
Y1 - 2018
N2 - Malignant gonadal germ cell tumors, referred to as germ cell cancers (GCC), occur with increased frequency in individuals who have specific types of differences (disorders) of sex development (DSD). Recent population-based studies have identified new environmental and genetic risk factors that have led to a 'genvironment' hypothesis, which may potentially be helpful in risk assessment in DSD-related GCC. In DSD, the malignancy risk is highly heterogeneous, but recent studies allow now to discriminate between high- and low-risk conditions. Gonadal biopsy is in some cases the best procedure of choice to assess the risk, and with the availability of immunohistochemical biomarkers [OCT3/4 (POU5F1), TSPY, SOX9, FOXL2 and KITLG (SCF)], a reliable classification of GCC and its precursors can be made. The opportunities in the field of virtual diagnostic pathology will be presented, having possibilities for rare diseases in general and DSD specifically. It is expected that the International DSD Registry will stimulate international collaborations, facilitating better diagnostic procedures as well as research.
AB - Malignant gonadal germ cell tumors, referred to as germ cell cancers (GCC), occur with increased frequency in individuals who have specific types of differences (disorders) of sex development (DSD). Recent population-based studies have identified new environmental and genetic risk factors that have led to a 'genvironment' hypothesis, which may potentially be helpful in risk assessment in DSD-related GCC. In DSD, the malignancy risk is highly heterogeneous, but recent studies allow now to discriminate between high- and low-risk conditions. Gonadal biopsy is in some cases the best procedure of choice to assess the risk, and with the availability of immunohistochemical biomarkers [OCT3/4 (POU5F1), TSPY, SOX9, FOXL2 and KITLG (SCF)], a reliable classification of GCC and its precursors can be made. The opportunities in the field of virtual diagnostic pathology will be presented, having possibilities for rare diseases in general and DSD specifically. It is expected that the International DSD Registry will stimulate international collaborations, facilitating better diagnostic procedures as well as research.
KW - Disorders of Sex Development/pathology
KW - Gonads/embryology
KW - Humans
KW - Practice Guidelines as Topic
KW - Risk Factors
KW - Sex Differentiation
KW - Telemedicine
U2 - 10.1159/000481757
DO - 10.1159/000481757
M3 - Review article
C2 - 29131109
SN - 1661-5425
VL - 12
SP - 106
EP - 122
JO - Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
JF - Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
IS - 1-3
ER -