Endocrine Abstracts

Introduction: The testicular disorder of sexual differentiation (DSD) is a rare clinical condition with a reported incidence of 1:20 000 newborn males. It is characterised by a male phenotype with 46,XX karyotype. There are three clinical phenotypes: normal male phenotype, males with genital ambiguities and males who are true hermaphrodites. SRY positive 46,XX testicular DSD results from the translocation of a Y chromosome segment containing the SRY gene during spermatogenesis...

Introduction: Prader–Willi syndrome (PWS) is a genetic syndrome usually diagnosed in childhood. Its reported prevalence ranges from one in 8000 to one in 45 000 with geographical variation. Clinical manifestations include obesity, hyperphagia, short stature, incomplete sexual development, and cognitive disabilities. The majority of published data regarding PWS comes from paediatric populations.Materials and methods: This is a retrospective observati...

Aim: Endocrine and metabolic disorders are among the most common complications in survivors after hematopoietic stem cell transplant (HSCT). The aim of this study was to evaluate thyroid function and glucose metabolism in patients treated with HSCT.Material and methods: This was a retrospective study which included 257 adult patients (173 males and 84 females) who underwent allogeneic HSCT between 2002 and 2014 in an Irish University Hospital. All patien...

Background: Over the last 20 years there have been significant advances in stem cell transplantation (SCT) in adults for haematological malignancies leading to improved survival. Endocrine disorders are among the most common complications in survivors after hematopoietic allogeneic stem cell transplant (HSCT), but data on adult transplant patients are still scarce.Methods: This is a retrospective study which included 284 adult patients (94 females and 19...

Lithium is used in psychiatric practice as maintenance therapy in bipolar disorder. It has a narrow therapeutic index with serious toxic potential. Lithium is associated with multiple endocrine and metabolic disturbances but data regarding the rates of these in individual patients is lacking. In a tertiary referral centre, all patients on lithium therapy from 2000 to 2014 were identified. The aim of this study was to assess the impact of lithium therapy on the development of e...