Endocrine Abstracts

Introduction: Isolated Gonadotropin Releasing Hormone (GnRH) Deficiency (IGD) is a rare disease with a wide spectrum of reproductive and non- reproductive clinical characteristics and is mainly characterized by hypogonadotropic hypogonadism with anosmia (Kallmann Syndrome) or normal olfactory function (Normosmic Idiopathic Hypogonadotropic Hypogonadism- nIHH). Apart from the phenotypic heterogeneity IGD is also highly genetically heterogeneous with >35 genes impli...

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: Preexisting chronic autoimmune thyroiditis is the only known risk factor for thyroid lymphomas, a rare variant of thyroid cancer. Here, we describe a male patient with previously undiagnosed Hashimoto’s thyroiditis who presented with severe airway compromise due to a thyroid lymphoma.Case report: 60 y/o, former smoker, presented with 2 month neck fullness and dyspnea that awakened him throughout the night due to malpositioning of his nec...