Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN …

A Nordenström, SF Ahmed… - European journal of …, 2022 - academic.oup.com
Abstract An Endo-European Reference Network guideline initiative was launched including
16 clinicians experienced in endocrinology, pediatric and adult and 2 patient …

Adult outcomes of urinary, sexual functions and fertility after pediatric management of differences in sex development: Who should be followed and how?

N Kalfa, J Nordenström, G De Win… - Journal of Pediatric …, 2024 - Elsevier
The management of Differences of Sex Development (DSD) has evolved considerably in
recent years. The questioning of systematic early childhood treatment of DSD requires a …

46, XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility …

MR Stancampiano, SLC Meroni, C Bucolo… - Frontiers in …, 2024 - frontiersin.org
The term 'differences of sex development'(DSD) refers to a group of congenital conditions
that are associated with atypical development of chromosomal, gonadal, and/or anatomical …

46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma: A case report

Z Li, J Liu, Y Peng, R Chen, P Ge, J Wang - Medicine, 2020 - journals.lww.com
Interventions: The patient was treated with neochemotherapy (etoposide and cisplatin),
surgery, chemotherapy, and testosterone replacement. Outcomes: At the 13-month follow …

SRY-positive 46, XX testicular disorder of sexual development with Leydig cell tumor

A Osaka, H Ide, K Matsuoka, T Iwahata… - American Journal of …, 2020 - journals.sagepub.com
The risk of a gonadal tumor is high in testicular disorder of sexual development (DSD) with
the Y chromosome, but cases of DSD without the Y chromosome are extremely rare. We …

46, XX male disorder of sexual development

M Adrião, S Ferreira, RS Silva, M Garcia… - Clinical Pediatric …, 2020 - jstage.jst.go.jp
An individual's sexual phenotype is usually determined by the presence or absence of the Y
chromosome in the embryo's karyotype, however, due to abnormal X/Y terminal exchange …

Multiscale analysis of SRY‐positive 46, XX testicular disorder of sex development: Presentation of nine cases

OS Akar, S Gunes, U Abur, E Altundag, R Asci… - Andrologia, 2020 - Wiley Online Library
Abstract 46, XX testicular disorder of sex development (46, XX TDSD) is a relatively rare
condition characterised by the presence of testicular tissue with 46, XX karyotype. The …

Long-term outcomes in non-CAH 46, XX DSD

V Grouthier, A Bachelot - Frontiers in Endocrinology, 2024 - frontiersin.org
Differences/disorders of sex development (DSD) comprise a large group of rare congenital
conditions. 46, XX DSD, excluding congenital adrenal hyperplasia (CAH), represent only a …

Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases

X Liu, Z Zhang, X Zhang, J Wang, J Jiang… - Prenatal …, 2024 - Wiley Online Library
Background Generally, the translocation of SRY onto one of the X chromosomes leads to 46,
XX testicular disorders of sex development, a relatively rare condition characterized by the …

A rare case of male sex reversal syndrome (46, XX) with negative SRY gene: a disorder of sexual differentiation (DSD)

MA Abd El Salam, NH Ibrahim, NN Eskarous - African Journal of Urology, 2021 - Springer
Background Male sex reversal syndrome is a rare genetic cause of male infertility with an
overall incidence of 1/20,000–1/100,000 males. There is mismatching between the genetic …