Tall stature: a difficult diagnosis?

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Term Occurence Count Dictionary
cortisol 1 endocrinologydiseasesdrugs
childhood obesity 1 endocrinologydiseases
diabetes mellitus 1 endocrinologydiseases
lipodystrophy 1 endocrinologydiseases
testosterone 5 endocrinologydiseasesdrugs
17β-estradiol 1 endocrinologydiseasesdrugs
metabolic syndrome 1 endocrinologydiseases
obesity 3 endocrinologydiseases
premature ovarian failure 1 endocrinologydiseases
gigantism 1 endocrinologydiseases
cystinuria 5 endocrinologydiseases
homocystinuria 4 endocrinologydiseases
hyperthyroidism 3 endocrinologydiseases
osteoporosis 2 endocrinologydiseases
congenital adrenal hyperplasia 2 endocrinologydiseases

Graph of close proximity drug and disease terms (within 200 characters).

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Select Drug Character Offset Drug Term Instance
17β-estradiol 27376 risk of developing prostatic cancer may be observed [[40]].In females, the most accepted treatment is 17β-estradiol at the dose of 0.2–4 mg/die, adding a progestin (10 mg) for 1 week a month. Treated patients may
cortisol 12638 have been recognized, including hyperthyroidism, GH excess, FGF23-mediated phosphate wasting and hyper cortisol ism. Skin manifestations are common and are usually present at or shortly after birth. The café-au-lait
testosterone 1708 puberty early and leading to a complete fusion of the epiphyses and achievement of final height, using testosterone in males and oestrogens in females. Alternatively, the most common surgical procedure for reducing growth
testosterone 8011 obesity. Oestrogen levels are low, while follicle stimulating hormone (FSH), luteinizing hormone (LH) and testosterone increased slightly. The most intriguing features are the presence of steatohepatitis, insulin resistance
testosterone 27029 puberty early and leading to a complete fusion of the epiphyses and achievement of final height, using testosterone in males and oestrogens in females.In males, testosterone enanthate is usually used at the doses of
testosterone 27087 epiphyses and achievement of final height, using testosterone in males and oestrogens in females.In males, testosterone enanthate is usually used at the doses of 250–500 mg/ 2 week for 6-9 months. Side effects as aggressive
testosterone 27828 treatment.Furthermore, late negative effects on fertility in females have been reported. High dose testosterone in boys is less effective than oestrogen treatment in girls, but the achieved height reduction depends
Select Disease Character Offset Disease Term Instance
childhood obesity 11165 Sometimes CAG can be associated with obesity and it has been suggested that could predict late onset of childhood obesity in non-obese children [[16]]. Puberty is often earlier in these children. An increase in insulin-like
congenital adrenal hyperplasia 6536 height, SDS: standard deviation score, CAG: constitutional advance of growth, GH: growth hormone, CAH: congenital adrenal hyperplasia Fig. 2Diagnostic approach to tall children with dysmorphismsIn the case of normal appearance (Fig. 1),
congenital adrenal hyperplasia 10246 secretion, secondary to an ovarian cyst in females or, more rarely to testis or ovary cancer, or a congenital adrenal hyperplasia . Congenital adrenal hyperplasia is mainly (90% of cases) due to a 21-hydroxylase deficit encoded by
cystinuria 4084 syndrome, while developmental problems may be associated with Klinefelter, Triple X, fragile X, homo cystinuria , Sotos and Weaver syndrome. Furthermore, an accurate medical history may reveal a syndromic cause: lens
cystinuria 4224 Furthermore, an accurate medical history may reveal a syndromic cause: lens luxation may suggest homo cystinuria or Marfan syndrome, cardiovascular problems are typical of Marfan syndrome, neonatal hypotonia is present
cystinuria 19862 the thumb extends well beyond the ulnar border of the hand when overlapped by the fingers [[25]].Homo cystinuria is a rare (1:250,000) autosomal-recessive disorder caused by an absence of the enzyme cystathionine
cystinuria 20261 Lenticular dislocation also occurs, usually in downward direction. A multitude of genes are related to homo cystinuria , but mutations in the gene that encodes for CBS are the prevalent. Alterations in CBS result in the
cystinuria 24271 number when Fragile X syndrome is consideredPlasma homocysteine level if there are criteria for homo cystinuria Bone age, evaluation by clinical geneticist, NSD1 sequencing when Sotos syndrome is considered.Genetics
diabetes mellitus 23246 muscle and liver. Affected individuals develop insulin resistance and approximately 25–35% develop diabetes mellitus between ages 15 and 20 years. Hepatomegaly secondary to hepatic steatosis and skeletal muscle hypertrophy
gigantism 14526 macroglossia such as in Beckwith-Wiedemann syndrome.Proportionate syndromesSotos syndrome (cerebral gigantism ): children with this syndrome at birth have increased length, weight and head circumference [[2]]. They
homocystinuria 4080 Beckwith-Wiedemann syndrome, while developmental problems may be associated with Klinefelter, Triple X, fragile X, homocystinuria , Sotos and Weaver syndrome. Furthermore, an accurate medical history may reveal a syndromic cause: lens
homocystinuria 4220 syndrome. Furthermore, an accurate medical history may reveal a syndromic cause: lens luxation may suggest homocystinuria or Marfan syndrome, cardiovascular problems are typical of Marfan syndrome, neonatal hypotonia is present
homocystinuria 20257 Lenticular dislocation also occurs, usually in downward direction. A multitude of genes are related to homocystinuria , but mutations in the gene that encodes for CBS are the prevalent. Alterations in CBS result in the
homocystinuria 24267 repeat number when Fragile X syndrome is consideredPlasma homocysteine level if there are criteria for homocystinuria Bone age, evaluation by clinical geneticist, NSD1 sequencing when Sotos syndrome is considered.Genetics
hyperthyroidism 11559 [[17]].In the absence of pubertal signs associated with a growth rate increase a condition of GH excess or hyperthyroidism may be considered. The former occurs before epiphyseal fusion and is characterized by rapid growth not
hyperthyroidism 12056 evaluation of the hypothalamus and pituitary by magnetic resonance imaging is requested. In a condition of hyperthyroidism , an increase in growth rate associated with advanced bone age is present. The diagnosis is made by measuring
hyperthyroidism 12568 café-au-lait skin pigmentation. Moreover, other associated endocrinopathies have been recognized, including hyperthyroidism , GH excess, FGF23-mediated phosphate wasting and hypercortisolism. Skin manifestations are common and
lipodystrophy 22988 psychomotor development, predisposition to cancer and thromboembolic diseases.Berardinelli-Seip congenital lipodystrophy is usually diagnosed at birth or soon thereafter. Because of the absence of functional adipocytes, lipid
metabolic syndrome 21405 Leydig cells and interstitial fibrosis. Subjects with Klinefelter syndrome may develop breast cancer or metabolic syndrome .Beckwith-Wiedemann syndrome is associated with excessive overgrowth apparently caused by excess availability
obesity 7905 tall stature, incomplete epiphyseal closure, eunucoid proportion of the skeleton, osteoporosis and obesity . Oestrogen levels are low, while follicle stimulating hormone (FSH), luteinizing hormone (LH) and testosterone
obesity 11098 length and they are tall for their parental height [[2], [16]]. Sometimes CAG can be associated with obesity and it has been suggested that could predict late onset of childhood obesity in non-obese children [[16]].
obesity 11175 can be associated with obesity and it has been suggested that could predict late onset of childhood obesity in non-obese children [[16]]. Puberty is often earlier in these children. An increase in insulin-like
osteoporosis 7888 adulthood, when there is a tall stature, incomplete epiphyseal closure, eunucoid proportion of the skeleton, osteoporosis and obesity. Oestrogen levels are low, while follicle stimulating hormone (FSH), luteinizing hormone
osteoporosis 8993 eunucoid body proportions, continued linear growth into adulthood due to incomplete epiphyseal closure and osteoporosis in males [[12]] and absent breast development and markedly elevated serum oestrogen levels and multicystic
premature ovarian failure 22368 clinodactily, hypotonia, joint hyperextensibility, genitourinary abnormalities, congenital hip dysplasia, premature ovarian failure , congenital heart defects, seizure disorders and electroencephalogram abnormalities. Fertility is normal.

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