Endocrine Abstracts

Only small advances were made in the field of pituitary imaging until the advent of magnetic resonance imaging (MRI), which led to an enormous increase in our detailed knowledge of pituitary morphology, thus improving the differential diagnosis of hypopituitarism. Indeed, MRI represents the examination method of choice for evaluating hypothalamic–pituitary-related endocrine diseases thanks to its ability to provide strongly-contrasted high-resolution multi-planar and spat...

The diagnosis of GHD in young adults is not straightforward and represents a major clinical challenge. The key predictors of persistent GHD are the severity of the original GH deficiency, the presence of additional pituitary hormone deficits, severely low IGF1 concentrations, and structural hypothalamic–pituitary (HP) abnormalities. We have demonstrated that patients with GHD and congenital HP may not require re-evaluation of GH secretion, whereas patients with isolated G...

GH plays a crucial role not only for growth, but also for the acquisition of bone mass and muscle strength. This process is completed after the achievement of adult height in the phase of transition from adolescence to adulthood. Therefore, continuation of GH replacement therapy in the transition age is essential in patients with a childhood-onset diagnosis of GHD. Higher likelihood of persistence is ovserved in patients with an early age at diagnosis, anatomical, organic, or ...

Context: CHH/KS is a major cause of pubertal and bone maturation delay due to sex steroids deficiency. FH and TH have not been evaluated in large series of CHH/KS patients. Analysis of auxometric measures in patients’ siblings has never been performed.Patients and methods: We selected 216 (164/52 men/women; 112/104 KS/normosmic CHH) with available auxometric measures. Sibling stature was available in a subgroup of 162 patients. Difference between th...

Introduction: ICH is a rare and heterogeneous condition due to defects of GnRH secretion or action. Recent data indicate that ICH, though characterized by a strong genetic component, is a disease of multifactorial origin. Indeed, digenic defects have been described as a possible pathogenic explanation for ICH.Subjects: We present two familial cases with particular clinical and genetic profiles, out of a cohort of 300 ICH patients.R...

Background and aim: The development of the pituitary gland is closely linked to this of the eyes and forebrain, as they all originate from the same embryonic origin, the anterior neural ridge. The constellation of symptoms leading to septo-optic dysplasia (SOD) is well established; other ophthalmic signs may be under-reported. The aim of the study was to define if patients with hypopituitarism present with eye abnormalities, which are distinct from SOD, and if this association...

Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of rare metabolic disorders characterized by hypocalcemia and hyperphosphatemia due to PTH resistance. Heterozygous loss of function mutations in the gene encoding the alpha-subunit of Gs (GNAS) inherited from the mother lead to PHP type Ia. PHP type Ia (PHP-Ia) is a disease in which the physical features (short stature, obesity, round face, brachydactyly and subcutaneous ossifications) that constitute Albri...

ICH is a rare and heterogeneous condition due to defects in the onthogenesis, migration and action of GnRH secreting neurons. Recent publications indicate that ICH, though characterized by a strong genetic component, is a disease of multifactorial origin. Indeed, digenic and oligogenic defects have been described as a possible pathogenic explanation for this disease. Among the cohort of 315 ICH patients we identified 3 KS and 7 nICH patients (7 males, 3 females) with a biallel...

Background and Aim: The development of the pituitary gland is closely linked to this of the eyes and forebrain, as they all originate from the same embryonic origin, the anterior neural ridge. The constellation of symptoms leading to septo-optic dysplasia (SOD) is well established; other ophthalmic signs may be under-reported. The aim of the study was to define if patients with hypopituitarism present with eye abnormalities, which are distinct from optic nerve hypoplasia (ONH)...

Background: Primary Adrenal Insufficiency (PAI) is a rare life-threatening disorder. Data on etiology and outcome of PAI in childhood are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). The aim of our study is to evaluate etiology, morbidity and long-term outcome of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21OHD CAH.Material and me...