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Growth and development
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
1.41. Skeletal proportions are normal inpituitary dwarfism.achondroplasia.delayed adolescence.congenital hypothyroidism.emotional deprivation.
Endocrine and reproductive disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, 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.
The Syndromes of Reduced Responsiveness to Thyroid Hormone
Published in Geraldo Medeiros-Neto, John Bruton Stanbury, Inherited Disorders of the Thyroid System, 2019
Geraldo Medeiros-Neto, John Bruton Stanbury
A wide variety of findings have appeared among the subjects with GRTH. Some have been distinctly hypothyroid, and, rarely, some have had the typical features of congenital hypothyroidism, with neonatal jaundice, deafness, nystagmus, delayed dentition and bone maturation, delayed growth and learning, diminished attention span, and mental retardation.
Bilateral Microphthalmia with Septo-Optic Dysplasia
Published in Neuro-Ophthalmology, 2021
Omar Solyman, Mohammed Attya, Abdelrahman Mahmoud Elhusseiny
A 3-month-old boy was referred for assessment and management of apparently absent ocular globes. There was no family history of consanguinity and his non-identical twin brother did not show any abnormality. Ocular examination showed small orbits with apparently absent globes, small conjunctival cul-de-sacs, shallow fornices, microblepharon and sunken eyelids (Figure 1). Magnetic resonance imaging of the orbit and brain revealed bilateral extreme microphthalmia, replacement of the optic nerves by disorganised rudimentary tissue tufts, hypoplastic orbits and extraocular muscles (Figure 2a), an absent septum pellucidum and an absent corpus callosum (Figure 2b). A pituitary hormonal essay showed decreased adrenocorticotropic hormone and thyroid-stimulating hormone (TSH). Random growth hormone (GH) level was also decreased. However, a repeat stimulated GH and insulin growth factor-1 were found to be within normal limits. The patient was referred to a paediatric endocrinologist for hormone replacement with hydrocortisone and levothyroxine before socket expansion therapy. Septo-optic dysplasia has rarely been reported to be associated with microphthalmia.1 Timely treatment with hydrocortisone and levothyroxine is essential to prevent Addisonian crisis from the stress and pain that may accompany insertion of the socket expanders. The congenital hypothyroid state of our case was not detected by the routine postnatal screening because regional screening for congenital hypothyroidism depends on detecting high TSH levels. Cases with pituitary hypothyroidism are overlooked.2
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.
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