Endocrine Abstracts

Thyroid hormones (TH) are important regulators of human metabolism and development, which modulate expression of target genes via nuclear thyroid hormone receptors (TRs). Different isoforms of these classical TRs including TRβ isoforms TRβ1 and TRβ2 as well as TRα1 were shown to be functional TH-responsive transcription factors and have been extensively studied. In contrast, the cellular function of TRα2, an alternative splice variant of TRα1, is ...

Objectives: The canonical function of thyroid hormone receptors (TRs) as mediators of thyroid hormone action on target gene expression is well known. However, the physiological function of the thyroid hormone receptor α splice variant TRα2, that does not bind thyroid hormones, remains elusive. Initial studies addressing the function of TRα2 indicated that it might act as a TRα1 antagonist, but the mechanisms underlying the dominant-negative activity of TR&#...

Objectives: The thyroid hormone receptor α (TRα) is crucial for organ development, regulation of growth, heart rate and energy homeostasis. In humans, THRA encodes for the two major TRα isoforms, TRα1 and TRα2. TRα2 is generated by alternative splicing and is unable to bind T3 and thus antagonizes TRα1 signaling. Therefore, the physiological effects of TRα require strictly controlled spatiotemporal expression of TRα isoform...

Hemoglobin A1c (HbA1c) is used for the long-term management of patients with diabetes mellitus (DM). Hemoglobin variants other than HbA1c and e-N-lysine-glycated HbA0 may cause analytical interference in determinations of HbA1c. Hemoglobin J is an abnormal hemoglobin, an alpha globin gene variant and present in various geographic locations. Hemoglobin J (depending on its type) has different characteristics and functions. For example hemoglobin J Capetown (α2 92Gln β2...

Objective: To investigate the results of J – 131 treatments in patients (pts) with autonomous thyroid adenomas in long period of follow up.Material and Methods: We enrolled 68 consecutive pts with Plummer’s disease (50 females, 18 males, mean age 54,7 yrs, range 21 – 79 yrs) for period 2000 – 2020 yrs. 87%(59/68) pts had a unifocal nodule, while 13% (9/68) pts had multifocal toxic autonomous nodules. Pts stopped antithyroid drugs for ...

Background: During spermatogenesis protamines replace histones in sperm head. Haploinsufficiency of the protamine (PRM) 1 or PRM2 gene causes infertility in mice. A mutation in PRM1 was associated with increased abnormal sperm morphology in infertile men1. We assessed the frequency of mutations and SNPs in the PRM1 and PRM2 gene in infertile patiens with normal sperm concentration and reduced morphology, a phenotype similar to that...

A 76 year old female presented in 2000 with thyrotoxicosis secondary to Grave’s disease. She was treated successfully with propylthiouracil (PTU) for 2 years then opted for and received a standard therapeutic dose of radioactive iodine (131I) in September 2003. Her thyroid function tests (TFTs) normalised in the first 6 months after treatment (FT4 <14 pmol/l) and she was started on replacement thyroxine 50 mcg od for 8 weeks. She presented in March 2004 wit...

The hypothalamic-pituitary-gonadal (HPG) axis controls puberty and reproduction and is tightly regulated by a complex network of excitatory and inhibitory neuroendocrine factors. Delayed or absent activation of the HPG axis results in delayed puberty or hypogonadotropic hypogonadism, whereas early activation results in central precocious puberty (CPP). In recent years, many genes have been identified in this complex network from genetic studies of human subjects with pubertal ...

The mechanisms controlling the timing of puberty remain largely unknown. Recent insights into genetic causes of pubertal disorders have provided important advances in our understanding of the physiology underlying this developmental process. Mutations in genes important in neuroendocrine pathways controlling GnRH release and LH and FSH secretion have been identified in patients with isolated hypogonadotropic hypogonadism, Kallmann syndrome, and central precocious puberty. Many...

Following the establishment of a telephone clinic follow-up for patients receiving radioiodine for recurrent thyrotoxicosis, we wished to further improve our results in achieving hypo(eu)thyroidism while minimising the risk of transient hyperthyroidism and thyroid storm post-therapy. Although not widely used, lithium has been shown to increase the effectiveness of radioiodine therapy, leading to prompter control of hyperthyroidism. Since August 2001, patients undergoing radioi...