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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The manifestations of endocrine derangements in the musculoskeletal system in infancy and childhood are disturbances in growth and maturation and in adulthood are disturbances in maintenance and metabolism. Hypercortisolism during skeletal immaturity suppresses growth. In the adult, hypercortisolism leads to osteoporosis, osteonecrosis, and muscle wasting. Deficiency of growth hormone during skeletal development results in short stature. An excess of growth hormone in a skeletally immature individual results in gigantism, an excess in a skeletally mature individual results in acromegaly. Patients with gigantism have extreme height with normal body proportions. Musculoskeletal manifestations of acromegaly include soft-tissue thickening, vertebral body enlargement, characteristic hand and foot changes, and enthesal bony proliferation. Hyperthyroidism causes catabolism of protein and loss of connective tissue, which manifest as muscle wasting. Deficient levels of thyroid hormone cause defects in growth and development. Severe growth retardation from congenital hypothyroidism is rare because neonatal screening recognizes the disorder and leads to early treatment. The skeletal manifestation of hypergonadism in children is precocious growth and early skeletal maturation. Although the initial precocious growth spurt results in a tall child, early closure of the growth plates results in a short adult. Hypogonadism in the prepubertal child results in delayed adolescence and delayed skeletal maturation. Diabetes mellitus in childhood results in decreased growth, a phenomenon presumed to be secondary to nutritional abnormalities. Generalized osteoporosis and short stature are common. In the adult, generalized osteoporosis may accompany insulin-dependent diabetes mellitus if obesity is absent. Calcification of interdigital arteries of the foot is common in diabetics and uncommon in other conditions. Additional skeletal manifestations relate to complications of diabetes such as peripheral neuropathy and diabetic foot disease.
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PMID:Radiologic manifestations in the musculoskeletal system of miscellaneous endocrine disorders. 198 24

Endemic cretinism is the most severe manifestation of dietary iodine deficiency. Two forms of the syndrome are traditionally described: neurological and myxoedematous. Although this classification highlights the important neurological sequelae of the disorder it implies that myxoedematous cretins have an alternative mechanism. Further, the nature of the neurological deficit associated with both types of endemic cretinism has received scant attention in recent times considering that it remains a common disorder in many parts of the world. The nature and extent of the neurological deficit found in endemic cretinism was investigated in 104 cretins from a predominantly myxoedematous endemia in western China and in 35 cretins from central Java, Indonesia, a predominantly neurological endemia. We found a similar pattern of neurological involvement in nearly all cretins from both endemias, regardless of type (myxoedematous or neurological), and of current thyroid function. Hallmarks of the neurological features included mental retardation, pyramidal signs in a proximal distribution and extrapyramidal signs. Many patients exhibited a characteristic gait. This probably reflected pyramidal and extrapyramidal dysfunction, although joint laxity and deformity were important contributing factors. Other frequently encountered clinical features were squint, deafness, and primitive reflexes. Cerebral computerized tomography (CT) revealed basal ganglia calcification in 15 of 50 subjects. The presence of basal ganglia calcification was confined to cretins with severe hypothyroidism. Otherwise, cerebral CT scanning demonstrated only minor abnormalities which did not contribute to the localization of the clinical deficits. We conclude that the same neurological disorder is present in both types of endemic cretinism reflecting a diffuse insult to the developing fetal nervous system. These clinical findings support the concept of maternal and fetal hypothyroxinaemia, arising from severe iodine deficiency, as the primary pathophysiological event in endemic cretinism. Differences between the two types of cretinism may be explained by continuing postnatal thyroid hormone deficiency in the myxoedematous type, which results in impaired growth, skeletal retardation and sexual immaturity.
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PMID:The neurology of endemic cretinism. A study of two endemias. 204 52

Congenital hypothyroidism is a common but preventable cause of mental retardation. The incidence of congenital hypothyroidism in the newborn population is about 1:3500 to 1:4000. Infants with Down's syndrome are at a special risk. Fort et al. reported an incidence of persistent primary congenital hypothyroidism in infants with Down's syndrome of 1:141 or 28 times higher than the general newborn population. Premature infants have varying degrees of immaturity of hypothalamic-pituitary-thyroid system and are at a special risk for a variety of thyroid disorders. These patients need adequate understanding and interpretation of their laboratory values before institution of replacement hormonal therapy. Screening programs are available in 48 states and have led to prompt diagnosis and recognition of most cases that would otherwise be missed. Prevention of mental retardation depends on early and adequate treatment. This requires close cooperation between the program and the physicians involved in the care of the infant. Many state screening programs maintain a list of experts who are available for consultation, if necessary.
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PMID:Congenital hypothyroidism: diagnosis, treatment, and prognosis. 308 Dec 94

The morphogenetic effects of congenital hypothyroidism on the development of rat vestibular receptor cells and ganglia were investigated by transmission electron microscopy. Vestibular ganglia are especially immature and characterized by an absence of a myelin sheath around the perikarya. The type I hair cells have a delayed development in their innervation. The last cells to differentiate and the last synaptic contacts to develop are the most affected. The most remarkable result of hypothyroidism is the persistent immaturity of the synaptic contacts.
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PMID:Effects of hypothyroidism on postnatal development in the peripheral vestibular system. 394 28

A four-year-old male affenpinscher was referred for evaluation of hindlimb weakness that had progressed to tetraparesis over a period of four weeks. Neurological examination was suggestive of a cervical spinal cord lesion. Radiographic examination revealed diffuse skeletal immaturity with open physes and epiphyseal dysplasia in long bones and vertebrae, consistent with a diagnosis of congenital hypothyroidism. Total and free serum T4 concentrations were very low, indicative of hypothyroidism. Survey radiographs of the cervical spine revealed a dorsally displaced Salter-Harris type I fracture of the cranial portion of the fourth cervical vertebra with the endplate present in the vertebral canal. Although signs of transverse myelopathy are uncommon in dogs with congenital hypothyroidism, they may be associated with either intervertebral disc protrusion or endplate displacement into the vertebral canal secondary to the epiphyseal abnormalities associated with congenital hypothyroidism.
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PMID:Tetraparesis due to vertebral physeal fracture in an adult dog with congenital hypothyroidism. 928 44

Congenital hypothyroidism is screened for in the UK using blood spot thyroid-stimulating hormone (TSH) screening at 5-8 d of age. Although standards are set by the UK Newborn Screening Programme Centre, there are variations in TSH cut-offs used. The introduction of repeat screening of preterm babies at 36 weeks' gestational age in 2005 was controversial in its utility and timing. Two cases of preterm babies are presented, who had normal blood spot TSH values on the first test and who became screen positive when re-tested at term. The first with Trisomy 21 was born at 29 + 6 weeks with an initial blood spot TSH of 3.3 mU/L rising to 263 mU/L at term-corrected gestational age (plasma TSH 476.5 mU/L). The second was born at 24 + 6 weeks' gestational age and on day 7, the heel prick blood spot TSH was <2 mU/L, rising to 6.4 mU/L at 36 weeks corrected gestational age. After a barium enema, the plasma TSH increased to 66.6 mU/L with a free thyroxine of 7.6 pmol/L at day 101. Both cases were treated with thyroxine until death due to complications of prematurity. These cases illustrate the difficulties in screening for congenital hypothyroidism in preterm infants, due to the immaturity of the hypothalamo-pituitary-thyroid axis, and the effect of intercurrent illness and drugs on thyroid function. Despite a reassuring published review of 2200 preterm infants, these cases suggest that it may be unwise not to re-screen ex-preterm infants for congenital hypothyroidism at term.
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PMID:Hypothyroidism in preterm infants following normal screening. 2190 4

A carrier boar was mated with 6 carrier sows to produce a total of 88 piglets (9 litters), 29.5% of which were 'barkers'. Analysis of these results implicated a recessive gene in the inheritance of the syndrome. Affected piglets were of normal size but developed respiratory distress with hypothermia soon after birth, and several died; survivors were killed within 8 hours of birth. A variety of lesions were seen in the lungs, e.g. immaturity and necrosis of alveolar epithelium, haemorrhages and hyaline membranes. In alveolar wash samples, phospholipids were markedly deficient, and surface tension was invariably higher than in unaffected piglets. All barkers had very small thyroid glands, and many showed signs of congenital hypothyroidism, including hairlessness, retarded ossification and reduced adrenocortical activity. Some of the abnormalities in barker piglets could be attributed to prenatal hypothyroidism, but pathogenesis of the lung abnormalities was less clear since normal maturation of fetal lung seems to depend on adrenocortical rather than thyroid hormones. However, hypothyroidism may have affected lung development indirectly via an effect on adrenal gland function. There are some similarities between this respiratory distress syndrome and parallel conditions in infants and foals.
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PMID:Studies on the barker (neonatal respiratory distress) syndrome in the pig. 2508 4

Adrenal and thyroid hormones are essential for the regulation of intrauterine homeostasis, and for the timely differentiation and maturation of fetal organs. These hormones play complex roles during fetal life, and are believed to underlie the cellular communication that coordinates maternal-fetal interactions. They serve to modulate the functional adaptation for extrauterine life during the perinatal period. The pathophysiology of systemic vasopressor-resistant hypotension is associated with low levels of circulating cortisol, a result of immaturity of hypothalamic-pituitary-adrenal axis in preterm infants under stress. Over the past few decades, studies in preterm infants have shown abnormal clinical findings that suggest adrenal or thyroid dysfunction, yet the criteria used to diagnose adrenal insufficiency in preterm infants continue to be arbitrary. In addition, although hypothyroidism is frequently observed in extremely low gestational age infants, the benefits of thyroid hormone replacement therapy remain controversial. Screening methods for congenital hypothyroidism or congenital adrenal hyperplasia in the preterm neonate are inconclusive. Thus, further understanding of fetal and perinatal adrenal and thyroid function will provide an insight into the management of adrenal and thyroid function in the preterm infant.
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PMID:Adrenal and thyroid function in the fetus and preterm infant. 2537 42

Proper treatment of congenital hypothyroidism warrants normal intellectual and physical development. This paper introduces the principles of treatment of congenital hypothyroidism, the recommended levothyroxine dosage, and the aims of therapy with its justification. The principles of treatment, specialist care of the patient, and methods used to evaluate therapeutic effects are described. Based on these data, recommendations concerning treatment and its monitoring in patients with congenital hypothyroidism are formulated. The paper also highlights the importance of educating the patients and/or their caretakers as one of the basic components of an effective therapy. The interpretation of screening tests in preterm neonates is provided as well. In the current screening program in preterm children TSH was determined between days three and five of life and then after three weeks. During this time TSH values are frequently low because of the immaturity of the hypothalamic-pituitary axis. Due to the increased risk of primary and secondary hypothyroidism in preterm and low birth weight babies the determination of TSH and fT4 between days three and five of life is recommended, irrespective of the screening test. (Endokrynol Pol 2016; 67 (5): 536-547).
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PMID:Congenital hypothyroidism - Polish recommendations for therapy, treatment monitoring, and screening tests in special categories of neonates with increased risk of hypothyroidism. 2782 92

Preterm infants can suffer various thyroid dysfunctions associated with developmental immaturity of the hypothalamic-pituitary-thyroid axis, postnatal illness, medications, or iodine supply. The incidence of thyroid dysfunction among preterm infants is higher than that among term infants and has been increasing with improvement in the survival of preterm infants. Hypothyroxinemia is frequently observed during the first week of life in extreme preterm neonates, and the incidence of delayed thyrotropin elevation is high at the age of 2-6 weeks. Although the necessity of routine rescreening remains controversial, recent guidelines on screening for congenital hypothyroidism have recommended rescreening of all preterm neonates. Thyroid hormone replacement is recommended for persistent thyrotropin elevation with or without hypothyroxinemia. Hypothyroxinemia without thyrotropin elevation does not require treatment, and some potential risks of levothyroxine supplementation have been reported. Although most thyroid dysfunctions are transient, careful follow-up after discontinuation of levothyroxine is considered so as to avoid missing persistent hypothyroidism.
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PMID:Screening and management of thyroid dysfunction in preterm infants. 3094 75


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