Endocrine Abstracts

Introduction: Testicular disorder of sexual development (XX male syndrome; Chapelle syndrome) is a rare clinical condition. Incidence is 1:20 000 in newborn males. Characteristics of syndrome include hypogonadism, gynecomastia, and infertility resulting from the azoospermia. Diagnosis is mainly established after puberty. Clinical manifestations could be heterogeneous, but external genitalia appear to be completely virilized in 90% of 46,XX males: SRY-positive. Other manifestat...

Background and Aims: Individuals with Down syndrome have an increased risk of developing hypothyroidism, autoimmune etiology. Prevalence of hypothyroidism in Down syndrome people is from 15% to 65%. Congenital hypothyroidism is about 25 times more common among newborns and infants with Down syndrome in comparison with the general population with incidence of 0.7% permanent cases and 0.3% transient congenital hypothyroidism cases, detected by newborn screening. Beyond the newbo...