Thyroid disease in pregnancy
Moshe Hod, Lois G. Jovanovic, Gian Carlo Di Renzo, Alberto de Leiva, Oded Langer in Textbook of Diabetes and Pregnancy, 2018
Although maternal hypothyroidism is associated with menstrual disturbance and decreased fertility, it is not rare to conceive.20 Women with limited thyroid reserve or iodine deficiency can develop hypothyroidism due to the increased metabolic demands during pregnancy. When iodine intake is adequate, the most common cause of hypothyroidism during pregnancy is autoimmune thyroid disease (AITD) (Hashimoto’s thyroiditis).21 Also, the presence of other autoimmune disorders like type 1 diabetes mellitus raises the risk of AITD.22 In iodine-poor areas, iodine deficiency itself is the most frequent cause of hypothyroidism. In fact, iodine deprivation is the most common cause of hypothyroidism worldwide. Next, other etiologies can occur in pregnant women including prior radioiodine ablation of the thyroid, thyroidectomy, or secondary hypothyroidism e.g., Sheehan’s syndrome. Finally, an important cause for neonatal thyroid hypofunction is congenital hypothyroidism. Most cases of this disorder are due to agenesis or dysgenesis of the fetal thyroid gland, congenital dyshormonogenesis, or iodine deficiency in endemic areas.
Thyroid disease and pregnancy
David S. Cooper, Jennifer A. Sipos in Medical Management of Thyroid Disease, 2018
Lastly, a very small percentage of women with atrophic Hashimoto’s thyroiditis may have antibodies that block thyroidal stimulation by TSH. These antibodies may be detected by assays for TSH receptor-binding inhibitory immunoglobulins (TBII), which assess the ability of maternal immunoglobulin to block TSH binding to the TSH receptor in vitro. Transient congenital hypothyroidism may be caused by the transplacental passage of these antibodies that then block TSH stimulation of the neonatal thyroid, analogous to but opposite of the situation of neonatal Graves’ disease. The estimated prevalence of this disorder is 1 in 180,000 births, or 2% of infants with congenital hypothyroidism (57). The antibodies can be measured in both the mother and the neonate, and if present, may indicate that lifelong levothyroxine therapy may not be necessary for the infant.
Endocrine and reproductive disorders
Angus Clarke, Alex Murray, Julian Sampson in Harper's Practical Genetic Counselling, 2019
Most cases of congenital hypothyroidism are due to failure of thyroid gland development and are sporadic. Occasional occurrence in sibs may indicate recessively inherited forms that cannot at present be distinguished. Recessively inherited cases of thyroid-stimulating hormone deficiency have also been recorded. Newborn screening is now universal in developed countries and has led to the recognition of hypothyroidism being part of several unusual malformation syndromes. There are no satisfactory data on offspring risks at present, but a knowledge of the underlying genetic aetiology, where it is achieved, can allow families to be given carefully considered advice.
A global perspective on newborn congenital hypothyroidism screening
Published in Baylor University Medical Center Proceedings, 2020
Congenital hypothyroidism (CH) is a thyroid hormone deficiency syndrome in newborns resulting from incomplete thyroid development and decreased thyroid hormone biosynthesis or thyroid-stimulating hormone (TSH) secretion.1,2 From the ancient world to the modern day, CH has been a common problem for children and adults in nations with poor nutrition and lack of prenatal care.3 In most cases, the diagnosis of CH has been delayed until the infant’s second or third month, hampering cognitive and physical development.4 In the 1970s, Dr. Jean Dussault conducted the first newborn screening (NBS) for CH using neonatal filter paper on heel prick samples similar to previous phenylketonuria and tyrosinemia NBS methods.4 With modern NBS programs and levothyroxine therapy, most children with congenital hypothyroidism have normal or near-normal neurodevelopment outcomes.5
Neonatal outcomes and congenital anomalies in pregnancies affected by hypothyroidism
Published in Annals of Medicine, 2021
Zareen Kiran, Aisha Sheikh, Khadija Nuzhat Humayun, Najmul Islam
Most studies reported major congenital anomalies as a perinatal outcome of hypothyroid mothers but did not describe the details of the anomalies [18]. Among the significant congenital anomalies, our cohort had more cardiovascular defects (CVD) with highest prevalence of Patent Ductus Arteriosus (PDA) (1.2%) followed by Ventricular Septal Defect (VSD) (1.1%). Literature is limited regarding neonates of hypothyroid mothers without congenital hypothyroidism developing cardiovascular defects. A study from India reported higher CVD than other anomalies amongst congenital hypothyroid neonates [42], which is similar to a Mexican study with a larger sample size and with PDA as the second most common CVD [43]. Urogenital tract was the second clinically important organ system involved in our neonates. A study from Iran has reported significant association of presence of urogenital anomalies with congenital hypothyroidism (OR 2.04; 95%CI: 1.1–3.6; p ≤0.05) [38]. We also observed that births to women diagnosed during pregnancy are 2.3 times more likely to have a congenital anomaly or condition. We have no local data to compare this effect, however, this subject is also rarely explored in literature. One of our neonates also had Zellweger syndrome and the other had Edward syndrome, which have never been reported before. Although there are number of miscellaneous cutaneous (most common Mongolian spots) and musculoskeletal conditions present in our cohort of neonates, we need to identify their significance only after conducting a case–control study.
Secondary and tertiary preventions of thyroid disease
Published in Endocrine Research, 2018
Fereidoun Azizi, Ladan Mehran, Farhad Hosseinpanah, Hossein Delshad, Atieh Amouzegar
Recently, studies pointed out the continuing health burden of congenital hypothyroidism in the screening era. Studies from France show that despite taking a tablet of levothyroxine daily for life to ensure normal development, growth and metabolism may seem a minor inconvenience to physicians, it may not be so for all children and their parents. Overweight, hearing impairments, visual problems, and chronic disease are more prevalent in adult patients with congenital hypothyroidism than their normal peers, and only a few of them attain the highest socioeconomic category. These patients have lower health-related quality of life than their healthy peers and are more likely to still be living with their parents.8 Another study from the United States found evidence suggesting that many parents of patients with congenital hypothyroidism discontinue treatment without following a testing protocol.9
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