scholarly journals “Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”

Endocrine ◽  
2021 ◽  
Author(s):  
Gerdi Tuli ◽  
Jessica Munarin ◽  
Alessandro Mussa ◽  
Diana Carli ◽  
Roberto Gastaldi ◽  
...  
Keyword(s):  
Head Circumference ◽  
Thyroid Disease ◽  
Pediatric Population ◽  
Brain Mri ◽  
Follicular Adenoma ◽  
Pten Gene ◽  
Pediatric Endocrinology ◽  
Benign Thyroid Disorders ◽  
And Gender ◽  
Benign Thyroid

Abstract Purpose To report the incidence of 4–12% of differentiated thyroid cancer (DTC) and up to 50% of benign thyroid nodular disease and to describe nodular thyroid disease in a multicentre pediatric population with PTEN mutations. Methods: Retrospective data of pediatric patients with PTEN mutations collected from tertiary Departments of Pediatric Endocrinology of Turin, Milan and Genua, Italy, in the period 2010–2020. Results Seventeen children with PTEN mutations were recruited in the study. Thyroid involvement was present in 12/17 (70.6%) subjects, showing a multinodular struma in 6/17 (35.3%), nodules with benign ultrasound features in 5/17 (29.4%) and a follicular adenoma in 1/17 (6%). No correlation was found between thyroid disease and gender, puberty, vascular manifestations, delayed development, or brain MRI abnormalities, while multiple lipomas were associated with thyroid disease (p = 0.03), as was macrocephaly. Standard Deviation (SD) score head circumference was 4.35 ± 1.35 cm in subjects with thyroid disease, 3 ± 0.43 cm (p = 0.02) in the group without thyroid disease. Thyroid involvement was present in all subjects with mutations in exon 6 (4/4) and exon 8 (3/3) of the PTEN gene (p = 0.02). Conclusion In the presented cohort, benign thyroid disorders were prevalent, with no evidence of DTC. A correlation was found between thyroid lesions and head circumference and the occurrence of multiple lipomas. Future studies in larger cohorts should assess whether risk stratification is needed when recommending surveillance strategies in children or young adolescents with PTEN hamartoma syndrome.

scholarly journals Dealing With Brain MRI Findings in Pediatric Patients With Endocrinological Conditions: Less Is More?

2022 ◽  
Vol 12 ◽  
Author(s):  
Francesco Baldo ◽  
Maura Marin ◽  
Flora Maria Murru ◽  
Egidio Barbi ◽  
Gianluca Tornese
Keyword(s):  
Pediatric Population ◽  
Brain Mri ◽  
Diagnostic Process ◽  
Pediatric Endocrinology ◽  
Mri Findings ◽  
Less Is More ◽  
Medical Needs ◽  
Brain Anomalies ◽  
Technological Developments ◽  
Clinical Conditions

Neuroimaging is a key tool in the diagnostic process of various clinical conditions, especially in pediatric endocrinology. Thanks to continuous and remarkable technological developments, magnetic resonance imaging can precisely characterize numerous structural brain anomalies, including the pituitary gland and hypothalamus. Sometimes the use of radiological exams might become excessive and even disproportionate to the patients’ medical needs, especially regarding the incidental findings, the so-called “incidentalomas”. This unclarity is due to the absence of well-defined pediatric guidelines for managing and following these radiological findings. We review and summarize some indications on how to, and even if to, monitor these anomalies over time to avoid unnecessary, expensive, and time-consuming investigations and to encourage a more appropriate follow-up of brain MRI anomalies in the pediatric population with endocrinological conditions.

scholarly journals Factors associated with neurodevelopment in preterm infants with systematic inflammation

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Eun Sun Lee ◽  
Ee-Kyung Kim ◽  
Seung han Shin ◽  
Young-Hun Choi ◽  
Young Hwa Jung ◽  
...  
Keyword(s):  
White Matter ◽  
Preterm Infants ◽  
Systemic Inflammation ◽  
Head Circumference ◽  
Brain Mri ◽  
White Matter Injury ◽  
Social Emotional ◽  
Postmenstrual Age ◽  
Neurodevelopmental Impairment ◽  
Near Term

Abstract Background Several studies have suggested that adverse neurodevelopment could be induced by systemic inflammation in preterm infants. We aimed to investigate whether preterm infants with systemic inflammation would have impaired neurodevelopment and which biomarkers and neurophysiologic studies during inflammation are associated with poor neurodevelopment. Methods This prospective cohort study enrolled infants born before 30 weeks of gestation or with birth weight < 1250 g. Infants were grouped according to the presence of systemic inflammation: Control (no inflammation, n = 49), I (systemic inflammation, n = 45). Blood and cerebrospinal fluid samples for markers of brain injury and inflammation were collected and amplitude-integrated electroencephalography (aEEG) was performed within 4 h of septic workup. We evaluated aEEG at 35 weeks postmenstrual age (PMA), head circumference at 36 weeks PMA, and brain MRI at discharge. The Bayley Scales of Infant and Toddler Development III (Bayley-III) was performed at a corrected age (CA) of 18 months. Results The I group had more white matter injuries (2 vs. 26.7%, Control vs. I, respectively) at the time of discharge, lower brain functional maturation (9.5 vs. 8), and smaller head size (z-score − 1.45 vs. -2.12) at near-term age and poorer neurodevelopment at a CA of 18 months than the control (p < 0.05). Among the I group, the proportion of immature neutrophils (I/T ratios) and IL-1 beta levels in the CSF were associated with aEEG measures at the day of symptom onset (D0). Seizure spike on aEEG at D0 was significantly correlated with motor and social-emotional domains of Bayley-III (p < 0.05). The I/T ratio and CRP and TNF-α levels of blood at D0, white matter injury on MRI at discharge, head circumference and seizure spikes on aEEG at near-term age were associated with Bayley-III scores at a CA of 18 months. Conclusions Systemic inflammation induced by clinical infection and NEC are associated with neurodevelopmental impairment in preterm infants. The seizure spike on aEEG, elevated I/T ratio, CRP, and plasma TNF-alpha during inflammatory episodes are associated with poor neurodevelopment.

Autoimmune thyroid disease in diabetic children and adolescents: a single center study from south Punjab

2021 ◽  
Vol 71 (7) ◽  
pp. 1804-1807
Author(s):  
Waqas Imran Khan ◽  
Erum Afzal ◽  
Sajjad Hussain
Keyword(s):  
Children And Adolescents ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Glycosylated Hemoglobin ◽  
Overt Hypothyroidism ◽  
Thyroid Peroxidase ◽  
Pediatric Endocrinology ◽  
Autoimmune Thyroid ◽  
Thyroid Peroxidase Antibody ◽  
Diabetic Children

Objective: To evaluate the prevalence of autoimmune thyroid disease (AITD) in diabetic children in south Punjab. Methods: This was an observational cross sectional study from Jan 2019 to Dec 2019 in the outpatient diabetic clinic of the department of pediatric endocrinology at Children Hospital and The Institute of Child Health Multan. A total of 161 consecutive patients of both genders with TIDM were enrolled in this study after taking informed consent. Blood samples for Thyroid functions testes including thyroid stimulating hormone (TSH), free thyroxin (fT4), Thyroid peroxidase antibody (TPO-Ab), thyroglobulin antibody (TG-Ab) and glycosylated hemoglobin (HbA1C) level were sent. Results: Among diabetic children males were 83 (51.6%). Age range was 2-15 years. Mean age and standard deviation was 9.7± 4.3. TPO-Ab was positive in 34 patients (21.1%) and TG-Ab in 27 patients (16.7%), whereas both antibodies were positive in 17 patients (10.5%). Six patients (3.7%) had evidence of subclinical hypothyroidism, 8 patients (4.9%) had overt hypothyroidism and 1 patient (0.62%) had hyperthyroidism Conclusion: The prevalence of AITD among children and adolescents with type 1 diabetes mellitus was 21.1% in our study. Hypothyroidism was more prevalent in these children compared to hyperthyroidism. All diabetic children should be screened for AITD. Thyroid functions should be checked where TPO antibody is positive. Keywords: Autoimmune thyroid disease, anti thyroid peroxidase antibody, anti thyroglobulin Continuous...

Recurrent laryngeal nerve palsy secondary to benign thyroid disease

1994 ◽  
Vol 108 (10) ◽  
pp. 878-880 ◽  
Author(s):  
J. E. Fenton ◽  
C. I. Timon ◽  
D. P. McShane
Keyword(s):  
Recurrent Laryngeal Nerve ◽  
Thyroid Disease ◽  
Nerve Palsy ◽  
Recurrent Laryngeal Nerve Palsy ◽  
Laryngeal Nerve ◽  
Recurrent Laryngeal Nerve Paralysis ◽  
Recurrent Nerve ◽  
Benign Thyroid Disease ◽  
Nerve Paralysis ◽  
Benign Thyroid

Abstract: A recurrent nerve palsy occurring in the presence of a goitre is considered to be caused by thyroid malignancy until proven otherwise.Three cases are described in which benign thyroid disease resulted in recurrent laryngeal nerve paralysis. Recent haemorrhage was implicated histologically as the possible aetiology in all three cases. The importance of identifying and preserving the recurrent laryngeal nerve in the surgical management is highlighted.

Selection of Hormonal Reference Values for Undescended Testicle Case in 8-Year-Old Boy with Abnormal Chromosome

2021 ◽  
Vol 28 (1) ◽  
pp. 91
Author(s):  
Vina Corry ◽  
Merci M. Pasaribu
Keyword(s):  
Reference Values ◽  
Clinical Pathology ◽  
Tanner Stage ◽  
Chromosome Analysis ◽  
Reference Intervals ◽  
Undescended Testicle ◽  
Pediatric Endocrinology ◽  
Pathology Laboratory ◽  
Testosterone Levels ◽  
And Gender

Establishing the diagnosis of undescended testicles requires appropriate hormonal laboratory reference values basedon age and gender. An 8-year-old boy with an undescended testicle, mental retardation, and stunting had a blood test thatwas carried out at the Clinical Pathology Laboratory, dr. Cipto Mangunkusumo (RSCM) Hospital on February 6, 2020, withtestosterone levels of 0.69 nmol/L (N male: 4.94-32.01 nmol/L) indicating decreased testosterone levels. The patient wasconsulted from urological surgery to pediatric endocrinology to determine the presence or rudiment of the patient'stesticles. Using the reference range of testosterone values assists clinicians in determining the diagnosis, monitoringtherapy, and prognosis of a disease. There are some testosterone reference values, which are currently available, includingCanadian Laboratory Initiative on Pediatric Reference Intervals Database (CALIPER) and the Tanner stage reference value.Later is more applicable because it is based on chronological age and secondary sexual development in assessing pubertydevelopment. A case of an 8-year-old boy with a clinical diagnosis of an undescended testicle, the laboratory test resultsshowed normal-low testosterone levels using the CALIPER and Tanner stage ranges according to the patient's age. Noincrease of testosterone levels after the second HCG stimulation test might be due to differences in the HCG administrationprotocol; therefore, the diagnosis of anorchia had not been established, and chromosome abnormalities of 46 XY, +6 Mar,17 dmin on chromosome analysis suggested the suspected syndrome. These findings were consistent with the suspicion ofprimary hypogonadism in children with suspected syndrome caused by bilateral cryptorchidism with a suspectedseminiferous tubular defect.

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