Endocrine Abstracts

CHH is a rare disease with a relevant genetic background, and is characterized by a failure to enter (complete forms) or to complete (partial forms) pubertal development. It requires a treatment to allow the completion of puberty, and in male this goal can be achieved either using testosterone replacement therapy or administering gonadotropins (Gn); the latter allows both testicular development and the endogenous testosterone production. There are few studies evaluating the th...

Introduction: Isolated hypogonadotropic hypogonadism (IHH) often occurs in the pre-pubertal period but it can also manifest in post-puberal age. Recent position statements and guidelines differentiate between a ‘true’ hypogonadotropic hypogonadism, intended as congenital or acquired organic defect (characterized by frankly pathological total Testoterone values, TTe <3.5 nmol/l), and a ‘false’ or functional hypogonadism, associated to older age and comor...

Primary ovarian insufficiency (POI) affects 1% of women before age 40 years, and in 70-90% of cases is defined as idiopathic. Although numerous POI-associated genes have been identified in recent years, the prevalence and pathogenicity of individual rare gene variants is still difficult to establish. The aim of our study was to retrospectively analyze the correlation between genotype and phenotype in patients with idiopathic POI, providing a more detailed characterization of P...

Background: In patients affected by type 2 diabetes mellitus (T2DM) a high prevalence of hypogonadotropic hypogonadism (HH) has been reported, even if there is no consensus on its pathogenic mechanisms. In addition to acquired causes, an individual predisposition has also been suggested. The understanding ofPurpose: The aim of this observational study is to assess: (1) the prevalence of hypogonadism in T2DM using the validated criteria from the EMAS stud...

The precise development of the Gonadotropin Releasing Hormone (GnRH) neurons is essential for the proper function of the hypothalamic-pituitary-gonadal axis, as GnRH is the master regulator of reproductive functions in vertebrates. Mutations in genes involved in the development of GnRH neurons are associated with Congenital Hypogonadotropic Hypogonadism (CHH), a heterogeneous genetic disorder characterized by hypogonadism, lack of puberty onset, and infertility, which is named...

Introduction: The effects of testosterone on coagulation have not yet been clarified. In particular, it is still controversial whether male hypogonadism, or testosterone replacement therapy (TRT), may slightly increase the risk of venous thromboembolism, in particular during the first months of therapy. This study aimed to assess the hemostatic balance in hypogonadal men before and after short-term TRT, compared to healthy controls.Methods: Thrombin gene...

Background: In patients affected with type 2 diabetes mellitus (T2DM) a high prevalence of hypogonadism has been reported, even if there is no consensus on its metabolic and cardiovascular implications, especially according to the type of hypogonadism. The aim of this observational study is to evaluate: (1) the prevalence of different types of hypogonadism in T2DM according to validated criteria from the EMAS study; (2) look for correlations of gonadal status with severity or ...

The Standards of Care version 8 (SOC 8) for transgender and gender diverse people suggest maintaining estradiol (E2) levels between 100-200 pg/ml in Assigned Male at Birth (AMAB) subjects who desire a complete feminization during gender affirmation hormone therapy (GAHT). However, data about estrogen dose therapy and corresponding serum concentrations are scarce, especially regarding gel formulations. Our aim was to retrospectively compare E2 serum levels in AMAB patients unde...

Idiopathic central hypogonadism (ICH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. Depending on the association with a normal or defective sense of smell, ICH could be respectively identified as normosmic ICH (nICH) or Kallmann’s syndrome (KS). Recent experimental evidences indicate the involvement of the new PROK2/PROKR2 pathway in GnRH neuron maturation and function and mutations affecting these two genes have been described in some IC...

Central Hypothyroidism (CeH) is a rare thyroid hormone production defect due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSHβ (several cases reported) and TRHR (only one case reported so far). Here, we report the clinical and genetic studies in 2 males and 3 females affected with isolated CeH with normal/low TSH levels (0.05–0.95 mU/L) and low FT4 levels (3.6–4.6 pM). None of the patients was detected at neo...