FAVA , Daniela

: Central diabetes insipidus (CDI) is a complex disorder in which large volumes of dilute urine are excreted due to arginine-vasopressin deficiency, and it is caused by a variety of disorders affecting the hypothalamic-posterior pituitary network. The differential diagnosis is challenging and requires a detailed medical history, physical...

Context Rapid-onset obesity with central hypoventilation, hypothalamic dysfunction, and autonomic dysregulation with neural crest tumors (ROHHAD-NET) syndrome pathophysiology remains elusive. Acquired neuroimmunological dysfunction has been proposed as a possible pathogenetic pathway. Objective The aim of our study was to characterize...

ContextData on pubertal timing in Silver Russell syndrome (SRS) are limited. Design and methodsRetrospective observational study including twenty-three SRS patients [11p15 loss of methylation, (11p15 LOM, n=10) and maternal uniparental disomy of chromosome 7 (mUPD7, n=13)] and 21 small for gestational age (SGA). Clinical (thelarche in females;...

Children with congenital hypothyroidism (CH) are at risk for suboptimal neurodevelopment.

Context Since the COVID-19 outbreak, the number of girls with suspected precocious puberty has increased. Objective To compare the incidence of idiopathic central precocious puberty (ICPP) during COVID-19 with that of the previous 4 years. Methods Anthropometric, biochemical, and radiological parameters were collected between January 2016 and...

Context The etiology of central precocious puberty (CPP) includes a spectrum of conditions. Girls younger than age 6 years with CPP should undergo cranial magnetic resonance imaging (MRI), but it remains controversial whether all girls who develop CPP between the ages of 6 and 8 years require neuroimaging examination. Objective To investigate...

Context: The 2019 AACE guidelines suggested peak GH-cutoffs to glucagon test (GST) of ≤3 μg/L and ≤1 μg/L in the diagnosis of permanent GH deficiency (GHD) during the transition phase. Objective: Aim of the study was to evaluate the accuracy of GST compared to insulin tolerance test (ITT) in the definition of GHD at adult height achievement....