Endocrine Abstracts

Introduction: Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads associated with a 46, XY karyotype in phenotypic females. They have normal female external genitalia and underdeveloped female internal genitalia. Such patients usually present with primary amenorrhea and delayed puberty but can also have gonadal tumors as adults. The exact incidence is unknown. The...

Introduction: The normal development of the female reproductive tract depends on the interaction between genetic, hormonal and environmental factors for the differentiation of the Müller Wolff ducts, and the urogenital sinusCase report: 16-year-old female, single, school student presented to our endocrine department complaining of delayed puberty. The patient was delivered by normal vaginal delivery, no history of anosmia or hearing defects There is...

Introduction: Androgen insensitivity syndrome (AIS), also known as testicular feminization, encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. where there is resistance to androgen actions influencing both the morphogenesis and differentiation of androgen responsive body structures AIS is an X-linked recessive disorder. This disorder includes a spectrum of changes ranging from male infertility to completely nor...

Introduction: Autoimmune polyglandular syndrome (APS) is a rare disease, that is defined by the presence of two or more glandular insufficiencies caused by autoimmune mechanisms and that may be associated with other pathologies and immunological phenomena. It is characterized by the Presence of circulating organ specific antibodies and lymphocytic infiltration of the affected gland.Case report: A 38-year-old female known to have autoimmune polyglandular ...