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PURPOSE: We evaluated clinical characteristics, sperm retrieval rates, and birth rates in a relatively large number of infertile patients with Y chromosome microdeletions.
MATERIALS AND METHODS: We retrospectively reviewed clinical data...
When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess...
PURPOSE: To report the case of a child with triple X syndrome presenting with exotropia and chorioretinal coloboma.
CASE SUMMARY: A one-year-old female infant presented with 35PD exotropia in the primary...
PURPOSE: We assessed the frequency of azoospermia factor a (AZFa), AZFb, and AZFc deletions and examined correlations between the deletion sites and the success rates of sperm presence within the...
Sex determination and differentiation require the balanced and sequential activation of transcription factors, signaling molecules, hormones and their receptors. Disorders of sex development (DSD) have heterogeneous groups of etiologies caused...