Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report.

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Term Occurence Count Dictionary
obesity 5 endocrinologydiseases
adrenal insufficiency 1 endocrinologydiseases
congenital hypothyroidism 5 endocrinologydiseases
cortisol 1 endocrinologydiseasesdrugs
goiter 1 endocrinologydiseases
hypogonadism 3 endocrinologydiseases
hypothyroidism 18 endocrinologydiseases

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cortisol 9267 Consequently, sex steroid replacement was initiated.Corticotrophin deficiency was excluded because cortisol response to low-dose ACTH test was normal (22 μg/dL - nv >18.1 μg/dL).Starting from transition phase,
Select Disease Character Offset Disease Term Instance
adrenal insufficiency 3179 responsible for this multifaceted phenotype, including a dysregulation of GH-IGF-I axis, hypogonadism, adrenal insufficiency , and altered pituitary-thyroid axis [[5], [6]].Published data on disorders of thyroid function and morphology
congenital hypothyroidism 516 Prader-Willi syndrome (PWS).Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH).Case presentationWe report a case of a girl with CH and PWS. At the age of 9 months CH caused
congenital hypothyroidism 1765 during infancy in PWS.Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism .Novel insightsThe presence of congenital hypothyroidism may delay the diagnosis in subjects affected
congenital hypothyroidism 1821 newborns with PWS are similar to those found in congenital hypothyroidism.Novel insightsThe presence of congenital hypothyroidism may delay the diagnosis in subjects affected by PWS.PWS should always be considered in patients with
congenital hypothyroidism 1948 may delay the diagnosis in subjects affected by PWS.PWS should always be considered in patients with congenital hypothyroidism and failure to thrive, and who do not improve adequately with the thyroid hormone replacement therapy.BackgroundPrader-Willi
congenital hypothyroidism 4868 report the second case of sublingual thyroid gland in a female patient with PWS, where the diagnosis of congenital hypothyroidism was missed on newborn screening.Case presentationThe patient is a 28.9-year-old woman, born after a
goiter 4647 neonatal thyroid abnormalities have been reported in PWS subjects, including the presence of fetal goiter in a newborn with UPD15 [[13]] and ectopic location of the thyroid gland in 1-yr-old female with CH
hypogonadism 3165 believed to be responsible for this multifaceted phenotype, including a dysregulation of GH-IGF-I axis, hypogonadism , adrenal insufficiency, and altered pituitary-thyroid axis [[5], [6]].Published data on disorders of
hypogonadism 9098 patient had no spontaneous menarche, she underwent a LHRH test at age 22 that documented a complete hypogonadism of central origin with concomitant low estradiol levels. Consequently, sex steroid replacement was initiated.Corticotrophin
hypogonadism 11789 peripheral and central hypothyroidism, as suggested by the later findings of GH deficiency, central hypogonadism and empty sella on MRI.Furthermore, our case is unique in that the diagnosis of PWS was delayed because
hypothyroidism 47 Title: Italian Journal of PediatricsCongenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case reportSarah BocchiniDanilo
hypothyroidism 527 syndrome (PWS).Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH).Case presentationWe report a case of a girl with CH and PWS. At the age of 9 months CH caused
hypothyroidism 1025 tests confirmed a maternal uniparental disomy of chromosome 15. This is the second reported case of hypothyroidism due to an ectopic sublingual thyroid gland in PWS suggesting that, although rare, an association between
hypothyroidism 1302 delayed because mental retardation, hypotonia, obesity and short stature were initially attributed to hypothyroidism .ConclusionsIn this context PWS should be considered in obese children with CH who do not improve adequately
hypothyroidism 1562 thyroid function in all PWS children should be assessed regularly in order to avoid delayed diagnosis of hypothyroidism .Estabilished factsThyroid axis dysfunction does not seem to be a very common feature during infancy
hypothyroidism 1776 in PWS.Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism .Novel insightsThe presence of congenital hypothyroidism may delay the diagnosis in subjects affected
hypothyroidism 1832 PWS are similar to those found in congenital hypothyroidism.Novel insightsThe presence of congenital hypothyroidism may delay the diagnosis in subjects affected by PWS.PWS should always be considered in patients with
hypothyroidism 1959 the diagnosis in subjects affected by PWS.PWS should always be considered in patients with congenital hypothyroidism and failure to thrive, and who do not improve adequately with the thyroid hormone replacement therapy.BackgroundPrader-Willi
hypothyroidism 3409 morphology in PWS are very limited. Thyroid axis dysfunction is not very common during infancy in PWS, while hypothyroidism variably affects a significant number of older children and adults with PWS. Untreated thyroid axis
hypothyroidism 4198 (TRH)-TSH thyroid axis dysfunction is a common feature in infants with PWS [[9]]. It is of note that hypothyroidism , similarly to PWS, is characterized by hypotonia and delayed psychomotor development when present early
hypothyroidism 4879 second case of sublingual thyroid gland in a female patient with PWS, where the diagnosis of congenital hypothyroidism was missed on newborn screening.Case presentationThe patient is a 28.9-year-old woman, born after a
hypothyroidism 10493 PWS subjects was generally considered to be normal or slightly altered, with a similar frequency of hypothyroidism in comparison to the general population [[15]–[17]]. More recently, other studies reported a higher
hypothyroidism 10624 the general population [[15]–[17]]. More recently, other studies reported a higher prevalence of hypothyroidism in PWS, mostly due to a central defect of central origin (hypothalamic hypothyroidism) [[8], [9], [12],
hypothyroidism 10710 prevalence of hypothyroidism in PWS, mostly due to a central defect of central origin (hypothalamic hypothyroidism ) [[8], [9], [12], [18]–[20]].At present, data on the incidence of other thyroid alterations, including
hypothyroidism 10838 [12], [18]–[20]].At present, data on the incidence of other thyroid alterations, including primary hypothyroidism , are inconsistent in these patients. In this light, the most interesting finding in our PWS patient
hypothyroidism 11176 of ectopic thyroid tissue in PWS [[14]]. In our case, high levels of TSH with normal T4 (subclinical hypothyroidism ) was detected during the neonatal screening for CH, but were not considered by the neonatologist (the
hypothyroidism 11712 be explained by only slightly elevated TSH levels, probably due to combined peripheral and central hypothyroidism , as suggested by the later findings of GH deficiency, central hypogonadism and empty sella on MRI.Furthermore,
hypothyroidism 11998 because mental retardation, hypotonia, weight excess and short stature were initially attributed to hypothyroidism .In this regard, the majority of newborns with PWS show signs and symptoms which can simulate CH, e.g.
obesity 1247 and PWS may exist. In our case diagnosis of PWS was delayed because mental retardation, hypotonia, obesity and short stature were initially attributed to hypothyroidism.ConclusionsIn this context PWS should
obesity 2624 estimated to be about 1:15,000 [[2]], representing the most common syndromal cause of life-threatening obesity [[3]]. The clinical phenotype of PWS patients is mainly characterized by neonatal hypotonia, hyperphagia
obesity 2755 phenotype of PWS patients is mainly characterized by neonatal hypotonia, hyperphagia leading to severe obesity in early childhood (if uncontrolled), short stature, multiple endocrine defects, small hands and feet,
obesity 9491 episodes of psychosis that required antipsychotic therapy. Over the years a progressive worsening of obesity was observed, due to her uncontrolled eating habits and poor compliance with diet therapy. At the age
obesity 9684 therapy. At the age of 24 a bioenteric intragastric balloon (BIB) was inserted for treatment of morbid obesity , with a transient weight loss of 13 kg in 9 months.At the last examination (28.9 years), the patient’s

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