Endocrine Abstracts

Primary Ovarian Insufficiency (POI) affects ~1% of women under forty leading most often to definitive infertility. About 25% of cases seem to be of genetic origin. The recent leap due to whole exome sequencing has led to the identification of new genes involved. Up to now more than sixty genes have been implicated in POI. Diminished Ovarian Reserve (DOR) also leads to female infertility. DOR is defined by a decreased quantity or quality of follicles based on antral follicle co...

Mkrn3, the maternally imprinted gene encoding the makorin RING-finger protein-3, has recently emerged as putative pubertal repressor, as evidenced by central precocity caused by MKRN3 mutations in humans; yet, the molecular underpinnings of this key regulatory action remain largely unexplored. We report herein that the microRNA, miR-30, with three binding sites in a highly conserved region of its 3’-untranslated region (UTR), operates as repressor of Mkrn3 to control pube...

Background: The genetic causes of central precocious puberty (CPP) of clinical value identified to date are the paternally inherited Makorin RING-finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1) deficiencies. Given that CPP is typically maternally inherited, however, the molecular genetic background in the majority of CPP cases remains unknown. Using candidate gene approach focused on genes regulating GnRH secretion and action so far exceedingly rare patients with CPP ...

Background: Metabolomics profiling of bio-fluids suggests altered signatures in patients with the polycystic ovary syndrome (PCOS).Subjects and methods: A high-performance liquid chromatography/time-of-flight mass spectrometry (HPLC/TOF-MS)-based metabolomics approach was developed to characterize the untargeted lipidomics signature associated with PCOS status in a discovery cohort of 30 plasma samples (15 PCOS, 15 controls, age-matched), followed in a s...

Background: In patients with Klinefelter syndrome (KS) morbidity and mortality seem to be higher than general population, this depending on a wide number of possible comorbidities. Impaired metabolic profile, increased risk of venous thrombosis and the consequent increase of cardiovascular diseases might play a key role in this condition as well as reduced bone mineral density and higher fracture risk. Nowadays testosterone replacement therapy (TRT) is the first-choice treatme...

The study aimed to investigate diet patterns and its association with metabolic features in patients with PCOS.Material and methods: 116 women with PCOS (according to Rotterdam criteria) were investigated in Vilnius city (Lithuania) in 2009–2011. Information about nutrition habits was collected utilizing qualitative food frequency questionnaire. Participants were tested for total testosterone, sex hormone-binding globulin, fasting glucose, insulin a...

Background: Proton-density fat fraction (PDFF), derived from chemical shift encoding-based water-fat magnetic resonance imaging, has emerged as an important surrogate method for calculation of fat composition in a number of tissues including liver, vertebrae and muscles. This study aims to determine whether fat composition of these tissues, as well as visceral and subcutaneous adiposity differ between women with PCOS and healthy controls.Methods: 17 lean...

Aim: To assess the relation between questionnaires of androgenic function (AMS and IIEF-EF scores) and sex hormones (DHT, estradiol and total and free testosterone) in men attending an outpatient clinic for endocrine and reproductive disorders.Methods: We retrospectively reviewed all data entered in the electronic database of the Münster Center of Reproductive Medicine and Andrology (CeRA) Androbase from patients visited between January 2015 and Oct...

Background: Male hypogonadism is known to be associated with an increased incidence of cardiovascular (CV) events, although the underlying biochemical mechanisms are so far not fully understood. The clinical condition characterized by low levels of testosterone offers a unique model to unravel the possible role of lipoprotein-associated abnormalities in CV risk. In particular, the assessment of the functional capacities of high-density lipoproteins (HDL) may provide novel insi...