Epiphysial Dysgenesis Associated With Hypothyroidism

Wilkins, Lawson

doi:10.1001/archpedi.1941.02000070022002

Cited by 37 publications

(12 citation statements)

References 7 publications

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“…The dorsal parts of these trapezoids seem fully consistent in size and morphology with the LB1 trapezoid. Bipartite trapezoids are very rare (Gruber 1887 (see electronic supplementary material)), but in cretins carpal ossification centres remain separate (Wilkins 1941) and unfused well into adulthood, as the bipartite scaphoids of a 29-year-old cretin (O'Rahilly 1953). Inspection of the actual carpal specimens of LB1, particularly the palmar surface of the trapezoid, and its articulations onto the scaphoid and capitate would test the presence of bipartite trapezoid.…”

Section: Discussionmentioning

confidence: 99%

Are the small human-like fossils found on Flores human endemic cretins?

2008

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Fossils from Liang Bua (LB) on Flores, Indonesia, including a nearly complete skeleton (LB1) dated to 18 kyr BP, were assigned to a new species, Homo floresiensis. We hypothesize that these individuals are myxoedematous endemic (ME) cretins, part of an inland population of (mostly unaffected) Homo sapiens. ME cretins are born without a functioning thyroid; their congenital hypothyroidism leads to severe dwarfism and reduced brain size, but less severe mental retardation and motor disability than neurological endemic cretins. We show that the fossils display many signs of congenital hypothyroidism, including enlarged pituitary fossa, and that distinctive primitive features of LB1 such as the double rooted lower premolar and the primitive wrist morphology are consistent with the hypothesis. We find that the null hypothesis (that LB1 is not a cretin) is rejected by the pituitary fossa size of LB1, and by multivariate analyses of cranial measures. We show that critical environmental factors were potentially present on Flores, how remains of cretins but not of unaffected individuals could be preserved in caves, and that extant oral traditions may provide a record of cretinism.

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Section: Discussionmentioning

confidence: 99%

Are the small human-like fossils found on Flores human endemic cretins?

2008

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“…In addition, about 10% of infants aged less than 12 months in Ubangi, Zaire are clinically hypothyroid, and nearly half have a marked delay in bone maturation, which is directly correlated to serum TSH and inversely correlated to serum T4 (54). The presence of epiphyseal dysgenesis in X-ray studies of the knees of some adult myxedematous endemic cretins in Zaire with clinical, biochemical, and radiologie signs of long-standing hypothyroidism suggests that hypothyroidism was present before or around birth (3,205); this provides indirect evidence of perinatal hypothyroidism. Also the direct correlations observed in these cretins between mental retardation and both height retardation and retardation in bone maturation indicate that hypothyroidism present in early life would account for the mental deficiency of the dwarfs (75,126).…”

Section: Complicationsmentioning

confidence: 99%

The Disorders Induced by Iodine Deficiency

Delange¹

1994

Thyroid

558

447

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This paper reviews present knowledge on the etiology, pathophysiology, complications, prevention, and therapy of the disorders induced by iodine deficiency. The recommended dietary allowances of iodine are 100 micrograms/day for adults and adolescents, 60-100 micrograms/day for children aged 1 to 10 years, and 35-40 micrograms/day in infants aged less than 1 year. When the physiological requirements of iodine are not met in a given population, a series of functional and developmental abnormalities occur including thyroid function abnormalities and, when iodine deficiency is severe, endemic goiter and cretinism, endemic mental retardation, decreased fertility rate, increased perinatal death, and infant mortality. These complications, which constitute a hindrance to the development of the affected populations, are grouped under the general heading of iodine deficiency disorders (IDD). At least one billion people are at risk of IDD. Iodine deficiency, therefore, constitutes one of the most common preventable causes of mental deficiency in the world today. Most of the affected populations live in mountainous areas in preindustrialized countries, but 50 to 100 million people are still at risk in Europe. The most important target groups to the effects of iodine deficiency from a public health point of view are pregnant mothers, fetuses, neonates, and young infants because the main complication of IDD, i.e., brain damage resulting in irreversible mental retardation, is the consequence of thyroid failure occurring during pregnancy, fetal, and early postnatal life. The main cause of endemic goiter and cretinism is an insufficient dietary supply of iodine. The additional role of naturally occurring goitrogens has been documented in the case of certain foods (milk, cassava, millet, nuts) and bacterial and chemical water pollutants. The mechanism by which the thyroid gland adapts to an insufficient iodine supply is to increase the trapping of iodide as well as the subsequent steps of the intrathyroidal metabolism of iodine leading to preferential synthesis and secretion of triiodotyronine (T3). They are triggered and maintained by increased secretion of TSH, which is ultimately responsible for the development of goiter. The acceleration of the main steps of iodine kinetics and the degree of hyperstimulation by TSH are much more marked in the pediatric age groups, including neonates, than in adults, and the development of goiter appears as an unfavorable side effect in the process of adaptation to iodine deficiency during growth. The most serious complication of iodine deficiency is endemic cretinism, a syndrome characterized by irreversible mental retardation together with either a predominant neurological syndrome or predominant hypothyroidism, or a combination of both syndromes.(ABSTRACT TRUNCATED AT 400 WORDS)

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“…A magnetic resonance imaging (MRI) scan on DOL 13 showed a normal pituitary gland. A skeletal survey revealed absence of ossification centers at the proximal humerus, distal femur, and proximal tibia, consistent with delayed bone maturation due to hypothyroidism, with ossification centers absent that are typically present in newborn children (1). The infant required phototherapy for hyperbilirubinemia from DOL 5 to DOL 12, with a peak total bilirubin of 18.7 lg/dL (<12 lg/ dL), and a direct component of 0.8 ng/dL (<0.6 mg/dL).…”

Section: Patientmentioning

confidence: 89%

Vertical Transmission of Hypopituitarism: Critical Importance of Appropriate Interpretation of Thyroid Function Tests and Levothyroxine Therapy During Pregnancy

Pine-Twaddell

Romero

Radovick

2013

Thyroid

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Background: Typically, newborns with congenital hypothyroidism are asymptomatic at birth, having been exposed to euthyroid mothers. However, hypopituitarism may be associated with central hypothyroidism, preserved fertility, and autosomal dominant inheritance, requiring increased attention to thyroid management during pregnancy. Patient Findings: A woman with a history of growth hormone deficiency and central hypothyroidism gave birth to a term male neonate appropriate for gestational age. Due to low thyrotropin (TSH) in the second trimester, the levothyroxine dose was decreased by the obstetrician, and free T4 was low throughout the latter half of pregnancy. The neonatal laboratory evaluation showed central hypothyroidism with a low T4 of 2.1 lg/dL (4.5-11.5) and an inappropriately normal TSH of 0.98 uIU/mL (0.5-4.5); undetectable growth hormone, IGF-I, and IGFBP3; a normal cortisol level; and a normal gonadotropin surge. After initiation of levothyroxine in the first week, both tone and feeding tolerance improved. However, the patient was found to have hearing loss, gross motor delay, and speech delay. Summary: In this report, we review a case of vertical transmission of a dominant negative POU1F1 mutation in which fetal abnormalities due to the hypothyroxinemic state during gestation may have been exacerbated by a decrease in the mother's levothyroxine dose based on a low TSH in early gestation. Both mother and fetus were unable to synthesize sufficient thyroid hormone, which may be responsible for the patient's clinical presentation. Conclusion: This case underscores several important points in the management of women with hypopituitarism. First, it is important that patients and clinicians are both aware of the differences in etiology, as well as appropriate screening and treatment, of primary versus central hypothyroidism. Second, it is necessary to monitor the thyroid hormone status closely during pregnancy to prevent fetal sequelae of maternal hypothyroidism. Third, genetic screening of patients with combined pituitary hormone deficiency is necessary, so that prenatal genetic counseling may be an option for expecting parents.

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Epiphysial Dysgenesis Associated With Hypothyroidism

Cited by 37 publications

References 7 publications

Are the small human-like fossils found on Flores human endemic cretins?

Are the small human-like fossils found on Flores human endemic cretins?

The Disorders Induced by Iodine Deficiency

Vertical Transmission of Hypopituitarism: Critical Importance of Appropriate Interpretation of Thyroid Function Tests and Levothyroxine Therapy During Pregnancy

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