Abstract Study Objective To estimate the overall frequency of gonadal tumors in patients with
45, X/46, XY mosaicism who underwent gonadectomy and to determine whether the degree …

Objective To report a man with primary infertility and variant karyotype. Design Case report.
Setting Private practice. Patient (s) A 37-year-old man with 4 years of primary infertility due to …

Objective: To describe clinical and laboratory features of a patient with 45, X/46, XY mosaic
karyotype and Y chromosome microdeletions and to discuss the diagnostic problems in his …

CONTEXT AND OBJECTIVE: 45, X/46, XY mosaicism, or mixed gonadal dysgenesis, is
considered to be a rare disorder of sex development. The aim of our study was to investigate …

OBJECTIVE: To provide an evidence-based guideline for professionals working with XY
women. DESIGN: Review including patient cases from a Danish fertility clinic. SETTING …

46XY women is a label that gathers together a number of different conditions for which the
natural history in to adult life is still only partially known. A common feature is the difficulty …

Purpose The etiology of 46, XY disorders of sex development (46, XY DSD) is complex, and
studies have shown that different series of patients with 46, XY DSD has different genetic …

XX maleness is the most common condition in which testes develop in the absence of a
cytogenetically detectable Y chromosome. Using fluorescence in situ hybridization (FISH) or …

Objective: To report a case of successful pregnancy in a patient with 46, XY karyotype with
primary ovarian failure. Design: Case report. Setting: Fertility Research Center, GG Hospital …

Objective To assess genetic mutations and associated somatic anomalies in a series of
patients with 46, XY gonadal dysgenesis (GD). Design Single center retrospective study …