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2016 (v1)PublicationHypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlationUploaded on: March 27, 2023
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2016 (v1)Publication
Growth hormone deficiency (GHD) may result from a failure of hypothalamic GHRH production or release, from congenital disorders of pituitary development, or from central nervous system insults including tumors, surgery, trauma, radiation or infiltration from inflammatory diseases. Idiopathic, isolated GHD is the most common sporadic form of...
Uploaded on: October 11, 2023 -
2022 (v1)Publication
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;...
Uploaded on: January 31, 2024 -
2021 (v1)Publication
Children with congenital hypothyroidism (CH) are at risk for suboptimal neurodevelopment.
Uploaded on: April 14, 2023 -
2018 (v1)Publication
Objective: To investigate the role of T2-DRIVE MRI sequence in the accurate measurement of pituitary stalk (PS) size and the identification of PS abnormalities in patients with hypothalamic-pituitary disorders without the use of gadolinium. Design: This was a retrospective study conducted on 242 patients who underwent MRI due to pituitary...
Uploaded on: April 14, 2023 -
2016 (v1)Publication
Context: The pathogenesis of congenital hypothyroidism (CH) is still largely unexplained. We previously reported that perturbations of the Notch pathway and knockdown of the ligand jagged1 cause a hypothyroid phenotype in the zebrafish. Heterozygous JAG1 variants are known to account for Alagille syndrome type 1 (ALGS1), a rare multisystemic...
Uploaded on: April 14, 2023 -
2023 (v1)Publication
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...
Uploaded on: February 11, 2024 -
2022 (v1)Publication
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...
Uploaded on: February 14, 2024 -
2024 (v1)Publication
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....
Uploaded on: July 3, 2024