Endocrine Abstracts

Background: Turner syndrome (TS) is an important cause of short stature, however, there are a few reported cases of concomitant occurrence of TS and growth hormone deficiency (GHD).Case report: We report a 23-year-old female with concominat TS and GHD, also presenting partial FSH/LH deficiency and primary myxedema. The patient had iniatially been evaluated at the age of 15 for short stature and primary amenorrhea when she was diagnosed with Turner syndro...

Background: Overt parathyroid bone disease is a rare entity. We present a case of primary hyperparathyroidism (PHPT) and osteitis fibrosa cystica with involvement of multiple facial bones and neurocranium. Although the initial differential diagnosis was between acromegaly and bone malignancy, endocrine assessment demonstrated PHPT, with favorable outcome after parathyroidectomy.Case report: A 59-year-old woman referred to our clinic with painful swelling...

Background: PCOS-associated increased metabolic risk may be selective, owing to its heterogeneous nature. Identification of high-risk individuals could enable better studies and prevention of complications.Aim: To characterize the metabolic risk, as metabolic syndrome (MetS), of specific PCOS subphenotypes.Subjects and methods: Romanian PCOS (Rotterdam criteria) and 64 controls, 18–35 years. PCOS subphenotypes were defined: i)...

Background: Androgen receptor (AR) activity is modulated by the length of CAG-repeat polymorphism in exon 1. Published data suggest association between CAG-repeat alleles and PCOS, but not all studies confirmed this finding.Aim: To test association of AR alleles with PCOS and clinical and biochemical signs of hyperandrogenism.Study design: Case–control association study, approved by the institutional ethical committee, of 137 ...

Background: Higher anti-Müllerian hormone (AMH) values are associated with polycystic ovary syndrome (PCOS) and AMH is proposed as a marker of PCOS, however, the optimal diagnostic threshold is not yet defined.Aim: To study the significant correlations of AMH in PCOS and the accuracy and threshold of AMH for the PCOS diagnosis in Romania.Subjects and methods: Serum AMH, TT, LH, FSH, fasting glucose and insulin (Ins), HOMA-IR a...

Background: Recent data highlight the role of anti-Müllerian hormone (AMH) to trigger the neuroendocrine abnormalities involving GnRH and secretion of gonadotropins in polycystic ovary syndrome (PCOS).Aim: To study factors significantly correlated with neuroendocrine dysfunction in PCOS, with focus on AMH.Subjects and methods: We performed a cross-sectional study in 137 patients with PCOS selected by Rotterdam 2003 criteria an...

Background: Hyperandrogenism is a main feature of the polycystic ovary syndrome (PCOS). Although its ovarian origin is well recognized, laboratory investigation suggested the contribution of adrenal gland, albeit of unknown mechanism.Aim: To understand the contribution of genetic factors in adrenal hyperandrogenism (AH) we investigated genome wide SNPs in subgroups of PCOS patients stratified as function of DHEAS levels in two ethnic populations (Romania...

Background: Hyperandrogenism (HA) is required for diagnosis of polycystic ovary syndrome (PCOS) and it is central to PCOS pathogenesis. Putative mechanisms of hyperandrogenism include disregulation of steroidogenesis, plasma transport and peripheral tissue regulation. Therefore, 5-alpha reductase genes (SRD5A1, SRD5A2), that regulate peripheral tissue conversion of testosterone to more potent dihydrotestosterone are good PCOS candidate genes. The single published study of SRD5...

Background: The incidence of metabolic syndrome (MetS) is higher in polycystic ovary syndrome (PCOS) patients than in the general population. However, it is still unclear if MetS is qualitatively different in PCOS.Aim: To compare the distribution of MetS diagnostic criteria and of insulin-resistance in subjects with MetS (PCOS versus matched controls).Patients: Of 97 patients with PCOS (Rotterdam criteria) and 31 age- and BMI-match...

Background: Multiple endocrine neoplasms (MEN) are a rare hereditary syndrome, caused by an autosomal dominant mutation due to germline mutation in the rearranged during transfection (RET) proto-oncogene. According to the new WHO guidelines, MEN type 2 (formerly known as MEN 2A) is characterised by medullary thyroid cancer (MTC), paragangliomas, primary hyperparathyroidism (PHP) and cutaneous lichen amyloidosis.Objectives: To present the clinical and par...