Patricia Papendieck

Thyroid Disorders of Neonates Born to Mothers with Graves' Disease

Maternal hyperthyroidism implies the risk of thyroid abnormalities in the newborn. We describe retrospectively the clinical presentation, treatment and follow up of 28 children born of hyperthyroid mothers. Patients were subdivided as follows: Group A (neonatal hyperthyroidism) (n=9): born from eight hyperthyroid mothers and one thyroidectomized mother. Children born from untreated mothers consulted between 1 and 7 days of life, while those born from treated mothers consulted between 8 and 17 days. Eight needed treatment. All remitted completely. Group B (primary hypothyroidism) (n=14): born from treated mothers, detected by neonatal screening. Eleven had transient hypothyroidism and three needed treatment. Group C (hypothalamic-pituitary hypothyroidism) (n=5): born from uncontrolled hyperthyroid mothers and found during follow up (age 9-28 days). The infants were treated with thyroid hormone, and recovered before 8 months of life. Every child born from a mother with autoimmune thyroid disease needs paediatric endocrinological assessment for detection of possible thyroid disorders.

Prevalence and etiology of congenital hypothyroidism detected through an argentine neonatal screening program (1997-2010).

Introduction: We retrospectively assessed the incidence of congenital hypothyroidism (CH) detected through our neonatal screening program between 1997 and 2010. We describe the diagnostic characteristics of the detected population and verify the impact of a TSH cutoff (CO) change. Patients and Methods: Screening was based on TSH determination on dried blood spot on filter paper samples (IFMA) using a 15 mU/l blood CO until 12/2002 (P1) and 10 mU/l thereafter (P2). Patients were classified as having transient or permanent CH (athyreotic, ectopic, eutopic, with goiter and unknown etiology). Global and diagnostic-related incidences were calculated for the whole studied period with the same CO, and P1 and P2 were compared. Results: Incidences of permanent CH were 1:3,108 (P1) and 1:2,367 (P2). The lower CO detected 22 extra CH, 13 of them definitive (70% with eutopic glands). Only a significant increase (p < 0.05) in eutopic CH was found, partially related to the lower CO applied. A statistically significant association with time was seen for total definitive and ectopic cases (p < 0.05). Conclusion: Our findings revealed some changes in the detected population partially related to the CO applied, with only eutopic dysfunctional disorders being more prevalent in the later years. Total permanent CH and ectopic thyroid disorders showed a trend toward higher detection over time, but their prevalence has not changed significantly in our screening program.

Differentiated thyroid carcinoma: presentation and follow-up in children and adolescents.

Abstract To review our Pediatric Endocrinology Division’s experience with differentiated thyroid carcinoma (DTC) we analyzed retrospectively the records of patients with DTC that had been seen between June 1988 and June 2008. Results: Forty-five patients (median age 13.7 years, 36 female) were diagnosed (papillary: 40, follicular: 5) with DTC presenting as a solitary nodule (n: 25), thyroid nodule with cervical adenopathy (n: 9) and multinodular goiter (n: 11). All underwent total thyroidectomy with resection of suspicious cervical lymph nodes (CLN). DTC was multicentric in 59% and revealed extrathyroidal extension in 44%. Initially, 44% had CLN metastases and 24% distant metastases. All patients underwent thyroid remnant ablation with 131I and suppressive treatment. Median follow-up was 5.1 years with a disease-free survival rate at 5 years of follow-up of 75%. Eleven percent presented recurrences. Conclusion: Pediatric DTC has an aggressive behavior at presentation. Higher preoperative TSH levels were significantly associated with a more advanced disease at diagnosis. CLT was present concomitantly in a quarter of the patients and further studies are needed to establish differences in these patients’ outcome. Diagnostic approach, total thyroidectomy, 131I treatment and thyrotropin suppression allowed a good progression-free survival rate.

Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases

Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clínicos Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases Mutations in the DUOX2 gene have been described in transient and permanent congenital hypothyroidism. Two brothers with congenital hypothyroidism detected by neonatal screening with eutopic gland and elevated thyroglobulin are described. They were treated with levothyroxine until it could be suspended in both during childhood, assuming the picture as transient. Organification disorder was confirmed. Both patients were compounds heterozygous for a mutation in exon 9 of the paternal allele (c.1057_1058delTT, p.F353PfsX36 or p.F353fsX388) and in exon 11 of the maternal allele (c.1271T > G, p.Y425X) of DUOX2 gene. Our finding confirms that the magnitude of the defect of DUOX2 is not related to the number of inactivated alleles, suggesting compensatory mechanisms in the peroxide supply.

Primary thyroglossal duct carcinoma with lateral neck metastasis in an adolescent girl

Thyroglossal duct cysts are the most common thyroid developmental anomalies accounting for 75% of midline neck tumors in children. Carcinomas arising from this remnant are very rare in adults and even scarcer in pediatrics. Preoperative diagnosis is a challenge and appropriate treatment is controversial. We report the case of a 13-year-old adolescent girl with a growing midline neck mass suspicious for a thyroglossal duct cyst who underwent a Sistrunk procedure. Histologic analysis revealed the presence of a papillary carcinoma in the wall. She completed treatment with total thyroidectomy and radioactive iodine. Postablative whole body scan showed an inferior neck metastasis. We discuss previous pediatric cases of this entity and the different options in the management strategy. Correspondence to: Patricia Papendieck, Division of Endocrinology, Endocrinology Research Center, Dr. Cesar Bergadá (CEDIE) Children’s Hospital “Ricardo Gutiérrez”, Rooster 1330, C1425EFD Buenos Aires, Argentina, Tel: +541149635931; E-mail: ppapendieck@cedie.org.ar