Early Treatment of Congenital Hypothyroidism

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 785-789
Author(s):  
D. A. FISHER ◽  
B. L. FOLEY
Keyword(s):  
Thyroid Hormone ◽  
School Performance ◽  
Congenital Hypothyroidism ◽  
Neonatal Period ◽  
Effective Means ◽  
Newborn Infants ◽  
Motor Dysfunction ◽  
Adequate Treatment ◽  
Functional Assessments ◽  
Normal Mean

Mass population screening of newborn infants for congenital hypothyroidism was introduced in 1974 and now is a routine and effective means of early diagnosis of congenital hypothyroidism throughout most of the industrialized world. A large number of affected infants and children have been treated with replacement thyroid hormone, and several reports of IQ measurements and functional assessments of 5-to 7-year-old treated children now are available. These reports document normal mean IQ values, satisfactory school performance, and minimal motor dysfunction in treated children. However, there have been reported correlations between lower IQ values and biologic parameters of the hypothyroid state in the neonatal period among several reported studies, and it is not yet clear whether early adequate treatment will reverse all of the effects of congenital hypothyroidism.

scholarly journals Diagnosis and Management of Central Congenital Hypothyroidism

2021 ◽  
Vol 12 ◽  
Author(s):  
Peter Lauffer ◽  
Nitash Zwaveling-Soonawala ◽  
Jolanda C. Naafs ◽  
Anita Boelen ◽  
A. S. Paul van Trotsenburg
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Gland ◽  
Congenital Hypothyroidism ◽  
Neonatal Period ◽  
Neurodevelopmental Outcome ◽  
Pituitary Hormone ◽  
Feeding Problems ◽  
Severe Condition ◽  
Diagnosis And Management ◽  
Prolonged Jaundice

Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of central CH is currently estimated at around 1:13,000. Central CH may occur in isolation, but in the majority of cases (60%) it is part of combined pituitary hormone deficiencies (CPHD). In recent years several novel genetic causes of isolated central CH have been discovered (IGSF1, TBL1X, IRS4), and up to 90% of isolated central CH cases can be genetically explained. For CPHD the etiology usually remains unknown, although pituitary stalk interruption syndrome does seem to be the most common anatomic pituitary malformation associated with CPHD. Recent studies have shown that central CH is a more severe condition than previously thought, and that early detection and treatment leads to good neurodevelopmental outcome. However, in the neonatal period the clinical diagnosis is often missed despite hospital admission because of feeding problems, hypoglycemia and prolonged jaundice. This review provides an update on the etiology and prognosis of central CH, and a practical approach to diagnosis and management of this intriguing condition.

scholarly journals Male congenital hypothyroid Pax8−/− mice are infertile despite adequate treatment with thyroid hormone

2007 ◽  
Vol 192 (1) ◽  
pp. 99-109 ◽  
Author(s):  
Joachim Wistuba ◽  
Jens Mittag ◽  
C Marc Luetjens ◽  
Trevor G Cooper ◽  
Ching-Hei Yeung ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Congenital Hypothyroidism ◽  
Clinical Symptoms ◽  
Hormone Replacement ◽  
Serum Testosterone ◽  
Fluid Secretion ◽  
Pituitary Hormones ◽  
Developmental Defect ◽  
Adequate Treatment ◽  
Efferent Ducts

Severe forms of congenital hypothyroidism lead to serious clinical symptoms if thyroid hormone replacement therapy is not instituted immediately after birth. In this study, Pax8−/− mice that are born without a thyroid gland were used as an animal model to study the consequences of congenital hypothyroidism. As expected, adequate treatment of these animals with thyroxine restored the general deficits of congenital hypothyroidism; however, Pax8-deficient male mice were infertile. We report here that in these mice, the efferent ducts and epididymides are either absent or the efferent ducts exhibit a reduced lumen and extensive connective tissue, which appears to impair testicular drainage and subsequently leads to complete absence of spermatozoa from the epididymis. The results suggest that, starting with the onset of pubertal testicular fluid secretion, a backpressure is created in the testis by the absence of efferent ducts or constriction of their tubule lumen when present. This subsequently leads to secondary disorganization of the seminiferous epithelium that increases with age, resulting in mixed atrophy of the testis in the adult. Serum testosterone levels as well as mRNA expression of anterior pituitary hormones are in the normal range, indicating that the observed infertility is not due to hormonal imbalance, but rather to a developmental defect of the efferent ducts. The demonstration of Pax8 expression in the epithelia of the epididymis and the efferent ducts suggests a direct morphogenic role of Pax8 in the development of these organs. It remains to be elucidated whether congenital hypothyroid male patients with mutations in the Pax8 gene are similarly affected.

Total and Free Thyroid Hormone Concentrations in the Neonatal Period

PEDIATRICS ◽  
1974 ◽  
Vol 53 (2) ◽  
pp. 211-216
Author(s):  
Allen Erenberg ◽  
Dale L. Phelps ◽  
Robert Lam ◽  
Delbert A. Fisher
Keyword(s):  
Thyroid Hormone ◽  
Cord Blood ◽  
Newborn Infant ◽  
Neonatal Period ◽  
Hormone Secretion ◽  
Newborn Infants ◽  
Blood Levels ◽  
Free T4 ◽  
Free T3 ◽  
Serum T3

Radioimmunoassay measurements of serum concentrations of thyroxine (T4), triiodothyronine (T3), free T4 (FT4), free T3 (FT3), and thyroxine binding globulin (TBG) were conducted in full-term newborn infants between birth and 5 days of age. The mean concentrations of T4 and FT4 increased from cord blood levels of 11.9 µg/100 ml and 2.9 ng/100 ml to peak values of 16.2 µg/100 ml and 7 ng/100 ml by 24 to 48 hours of age. Mean serum total and free T3 concentrations increased from cord blood levels of 50.5 ng/100 ml and 146 pg/100 ml to peak values of 419 ng/100 ml and 1,260 pg/100 ml by 24 hours of age. Mean T3/T4 and FT3/FT4 ratios increased from 1/238 to 1/39 and from 1/20 to 1/6, respectively, during this period. By 72 to 126 hours, both the T4 and T3 concentrations had fallen somewhat. Mean serum TBG concentrations were unchanged and approximated 5.0 mg/100 ml during the first 5 days of life. These data confirm earlier reports that the normal newborn infant rapidly becomes chemically hyperthyroid in the neonatal period due to increased thyroid hormone secretion; this neonatal hyperthyroid state is due more to T3 than to T4. The data also confirm earlier reports that the fetus is T3 deficient due to a decreased capacity to monodeiodinate T4 to T3 in extrathyroidal tissues. The rapid increase in serum T3 after delivery at a time when the capacity to convert T4 to T3 is reduced suggests that the increment in serum T3 is due, predominantly, to increased T3 secretion from the thyroid gland stimulated by the neonatal TSH surge. Thus with parturition, the newborn infant is transformed from a state of chemical T3 deficiency to a state of chemical T3 thyrotoxicosis.

Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil

2020 ◽  
Vol 33 (11) ◽  
pp. 1449-1455
Author(s):  
Suzana Nesi-França ◽  
Rodrigo B. Silveira ◽  
Juliana Cristina R. Rojas Ramos ◽  
Adriane A. Cardoso-Demartini ◽  
Monica N. Lima Cat ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Adult Height ◽  
Screening Program ◽  
Pubertal Development ◽  
Z Score ◽  
Normal Range ◽  
Adequate Treatment ◽  
Increased Risk ◽  
Puberty Onset

AbstractObjectivesAdequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, secondly, to evaluate adult height (AH) in a subgroup of patients.MethodsClinical, laboratory, and auxological data obtained from medical records of 174 patients (123 girls).ResultsMedian chronological age (CA) at treatment initiation was 24 days, and mean initial levothyroxine dose was 11.7 ± 1.9 μg/kg/day; mean CA at puberty onset was 11.5 ± 1.3 years (boys) and 9.7 ± 1.2 years (girls); mean CA in girls who underwent menarche (n=81) was 12.1 ± 1.1 years. Thyroid-stimulating hormone (TSH) values above the normal range were observed in 36.4% of the boys and 32.7% of the girls on puberty onset, and in 44.6% around menarche. Among 15 boys and 66 girls who had reached the AH, the median height z-score value was significantly greater than the target height (TH) z-score value in boys (p=0.01) and in girls (p<0.001). Boys with normal TSH values at puberty onset had greater mean AH z-score compared with boys with TSH values above the normal range (p=0.04).ConclusionsIn this group, pubertal development in girls with CH was not different from that reported in healthy girls in the general Brazilian population. Boys with higher TSH at puberty onset may have an increased risk of not reaching their potential height compared with those with normal TSH during this period. In a subgroup who attained AH, the median AH z-score was greater than the median TH z-score.

scholarly journals Neonatal Hypoglycaemia: A Never-Ending Story?

Neonatology ◽  
2021 ◽  
pp. 1-8
Author(s):  
Nestor E. Vain ◽  
Florencia Chiarelli
Keyword(s):  
At Risk ◽  
Neonatal Period ◽  
Newborn Infants ◽  
Neonatal Hypoglycaemia ◽  
Rational Decision Making ◽  
Weak Evidence ◽  
Universal Approach ◽  
Definition Of ◽  
Therapeutic Alternatives ◽  
Current Guidelines

Neonatal hypoglycaemia is a common metabolic disorder presenting in the first days of life and one potentially preventable cause of brain injury. However, a universal approach to diagnosis and management is still lacking. The rapid decrease in blood glucose (BG) after birth triggers homeostatic mechanisms. Most episodes of hypoglycaemia are asymptomatic, and symptoms, when they occur, are nonspecific. Therefore, neonatologists are presented with the challenge of identifying infants at risk who might benefit from a rapid and effective therapy while sparing others unnecessary sampling and overtreatment. There is much controversy regarding the definition of hypoglycaemia, and one level does not fit all infants since postnatal age and clinical situations trigger different accepted thresholds for therapy. The concentration and duration of BG which cause neurological damage are unclear. Recognizing which newborn infants are at risk of hypoglycaemia and establishing protocols for treatment are essential to avoid possible deleterious effects on neurodevelopment. Early breastfeeding may reduce the risk of hypoglycaemia, but in some cases, the amount of breast milk available immediately after birth is insufficient or non-existent. In these situations, other therapeutic alternatives such as oral dextrose gel may lower the risk for NICU admissions. Current guidelines continue to be based on expert opinion and weak evidence. However, malpractice litigation related to neurodevelopmental disorders is frequent in children who suffered hypoglycaemia in the neonatal period even if they had other important factors contributing to the poor outcome. This review is aimed to help the practicing paediatricians and neonatologists to comprehend neonatal hypoglycaemia from physiology to therapy, hoping it will result in a rational decision-making process in an area not sufficiently supported by evidence.

Salivary Immunoglobulins: Absence of γA in Saliva Following Exchange Transfusions in Neonatal Period

PEDIATRICS ◽  
1967 ◽  
Vol 40 (3) ◽  
pp. 452-454
Author(s):  
JOHN C. SELNER ◽  
DEBORAH A. MERRILL ◽  
HENRY N. CLAMAN
Keyword(s):  
Neonatal Period ◽  
Newborn Infants ◽  
Newborn Period ◽  
Data Support ◽  
Serial Samples

The possible transport of serum γA into saliva was studied in the newborn period. Five infants with erythroblastosis fetalis and undetectable γA in serum or saliva had two-volume exchange transfusions. Serum γA rose to "adult" levels after transfusion, but no detectable γA appeared in serial samples of saliva, as measured by electroimmunodiffusion (EID). The data support the thesis that salivary γA is not transported from the serum and tends to confirm the findings of Haworth and Dilling who previously described the absence of salivary γA following exchange transfusions in newborn infants.

Cognitive and White Matter Microstructure Development in Congenital Hypothyroidism and Familial Thyroid Disorders

2021 ◽  
Author(s):  
Katia Perri ◽  
Letizia De Mori ◽  
Domenico Tortora ◽  
Maria Grazia Calevo ◽  
Anna E M Allegri ◽  
...  
Keyword(s):  
At Risk ◽  
White Matter ◽  
Congenital Hypothyroidism ◽  
Cognitive Vulnerability ◽  
Reading Speed ◽  
Careful Consideration ◽  
Thyroid Disorders ◽  
Healthy Children ◽  
Adequate Treatment ◽  
White Matter Microstructure

Abstract Context Children with congenital hypothyroidism (CH) are at risk for suboptimal neurodevelopment. Objectives To evaluate neurocognitive function and white matter microstructure in children with permanent or transient CH and to correlate these findings with disease severity. Design, participants and methods A retrospective and prospective observational study was conducted in 39 children with permanent or transient CH, and in 39 healthy children. Cognitive function was assessed by Wechsler Intelligence Scale (WISC-IV) and by other tests; the white matter microstructure was investigated by 3 Tesla magnetic resonance (MRI). Results Children with permanent CH have lower cognitive scores at a median age of 9.5 years than those with transient CH and controls. An IQ score between 71-84 was found in 28.6% of permanent CH and of &lt;70 (p=0.06) in 10.7%. The Processing Speed Index (PSI, p=0.004), sustained visual attention (p=0.02), reading speed (p=0.0001), written calculations (p=0.002) and numerical knowledge (p=0.0001) were significantly lower than controls. Children born to mothers with Hashimoto’s thyroiditis have significantly lower IQ values (p=0.02), Working Memory Index (p=0.03) and PSI (p=0.02). Significantly lower IQ and Verbal Comprehension Index values were found in children with a family history of thyroid disorders (p=0.004; p=0.009), respectively. In children with permanent CH, significant correlations between abnormalities in white matter microstructural, clinical and cognitive measures were documented. Conclusions These findings indicate that children with CH are at risk of neurocognitive impairment and white matter abnormalities despite timely and adequate treatment. The association between offspring cognitive vulnerability and maternal thyroid disorders requires careful consideration.

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