Publications by authors named "Brunella Bagattini"
Context: Clinical course and need for long-term L-thyroxine (LT4) therapy of congenital hypothyroidism (CH) with gland in situ (GIS) remain unclear.
Objective: To describe the clinical history of CH with GIS and evaluate the proportion of patients who can suspend therapy during follow-up.
Design And Setting: Retrospective evaluation of patients followed at referral regional center for CH of Pisa.
Background: In this study, we used targeted next-generation sequencing (NGS) to investigate the genetic basis of congenital hypothyroidism (CH) in a 19-year-old Tunisian man who presented with severe hypothyroidism and goiter.
Case Presentation: The propositus reported the appearance of goiter when he was 18. Importantly, he did not show signs of mental retardation, and his growth was proportionate.
Context: Thyroid autoantibody positivity has been associated with an increased rate of obstetrical complications.
Objective: We aimed to evaluate the role of thyroid autoantibodies in adverse pregnancy outcomes.
Methods: This prospective study was conducted in the Endocrinology Unit of Pisa Hospital.
Article Synopsis
- Nodular goiter is common and primarily asymptomatic, with diagnosis involving hormone tests, imaging, and potential biopsy; treatments range from dietary changes to surgery.
- Hypothyroidism can be autoimmune and varies by age group, requiring monitoring with lab tests, while subacute thyroiditis is an inflammatory condition that typically resolves on its own.
Background: Levothyroxine (l-T4) is commonly employed to correct hormone deficiency in children with congenital hypothyroidism (CH) and in adult patients with iatrogenic hypothyroidism.
Objective: To compare the daily weight-based dosage of the replacement therapy with l-T4 in athyreotic adult patients affected by CH and adult patients with thyroid nodular or cancer diseases treated by total thyroidectomy.
Design And Methods: A total of 36 adult patients (27 females and nine males) aged 18-29 years were studied; 13 patients (age: 21.
Article Synopsis
- Congenital hypothyroidism (CH) due to thyroglobulin (TG) deficit is an autosomal recessive disorder characterized by low thyroid hormone levels and low serum TG, identified in two sisters from consanguineous parents.
- The sisters underwent genetic testing, revealing a novel homozygous mutation in the TG gene that creates a stop codon, leading to either a nonfunctional protein or none at all.
- This mutation is linked to their hypothyroidism symptoms, and their father was identified as a heterozygous carrier of the mutation.
A 54-year-old Italian female patient was admitted to our Department with the diagnosis of type 2 diabetes poorly controlled with insulin therapy. The patient was born by consanguineous parents (first degree cousins); she had acromegaloid features, diffuse lipoatrophy and muscular pseudo-hypertrophy since childhood. To confirm the clinical hypothesis of congenital generalized lipodystrophy (CGL) or Berardinelli-Seip syndrome, the sequences of AGPAT2 (encoding for 1-acyl-sn-glycerol-3-phosphate acyltransferase beta) and BSCL2 (encoding for seipin) candidate genes were analyzed.
View Article and Find Full Text PDFContext: Congenital hypothyroidism (CH) associated with goiter or a gland of normal size has been linked to dual oxidase 2 (DUOX2) mutations in the presence of iodide organification defect.
Objective: Thirty unrelated children with CH or subclinical hypothyroidism (SH) identified during infancy with a eutopic thyroid gland, coming from our Screening Centre for CH or referred from other regions of Italy, were studied with the perchlorate discharge test to identify organification defects. Eleven children with iodide organification defect were considered for the genetic analysis of TPO, DUOX2, and dual oxidase maturation factor 2 (DUOXA2) genes.
Background: Iodide transport defects (ITDs), rare causes of congenital hypothyroidism (CH), have been shown to arise from abnormalities of the sodium/iodide symporter (NIS). We describe a 16-year-old girl with CH caused by an ITD resulting from a novel mutation of NIS.
Summary: A 16-year-old girl with CH diagnosed by a neonatal screening program received early treatment with L-thyroxine replacement therapy.