Endocrine Abstracts

A previously fit 39 year old joiner presented in November 2003 with a 6 month history of intermittent right-sided abdominal pain. There was no associated nausea or vomiting. An abdominal ultrasound requested by his general practitioner revealed a single gallbladder calculus and a 10 cm right-sided cystic mass with some echogenic areas, probably of hepatic or adrenal origin. He was normotensive and clinical examination was normal. CT scan of the abdomen confirmed a 9 cm mass ar...

Conventional intramuscular preparations of testosterone esters are associated with wide fluctuations in serum testosterone (T) levels following administration, even when a lower dose (100 mg) is injected every 7–10 days, let alone 250 mg every 2–3 weeks. Depot Testosterone undecanoate [TU -Nebido] is a newly available option for androgen replacement. The possibility of achieving stable therapeutic serum T levels over a period of months is its principal attraction. Da...

Mutations in the genes of PROK2/R2 cause isolated hypogonadotropic hypogonadism (IHH) in humans, and defects in the PROK2/R2 pathway metabolic disturbances in mice. The role of naturally occuring mutations in the reproductive and metabolic health of the general population remains unknown. We hypothesized that individuals with naturally occurring rare PROK/R2 variants will display dysregulation of their reproductive and metabolic fitness. We ...

Background: Congenital hypogonadotropic hypogonadism (CHH), a clinically and genetic heterogenous sydrome, is caused by > 40 known loci whose mutations share the ability to cause defects in the ontogeny of the GnRH neuron network leading to absent/incomplete puberty and infertility. Cornelia de Lange Syndrome (CdLS) is similarly heterogenous disorder (distinctive facies, psychomotor delay, growth retardation and upper limb malformation) caused by mutations in 7 different g...