Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thyroid hormone deficiency is frequently associated with central nervous system (CNS) disturbances such as mental retardation, convulsions, coma etc. Studies of quantitative changes in CNS in hypo- or hyperthyroidism are scarce. Evoked potentials is a good method of assessing the electrical response of the brain to different (visual, acoustic, somatosensory) stimuli and has been used extensively in the study of brain disturbances and to a lesser degree in metabolic diseases. We studied the visual evoked potentials (latency and amplitude) in 12 patients with hyperthyroidism and 15 patients with hypothyroidism, before treatment and after they became euthyroid. Four of the hyperthyroids (33%) had abnormally prolonged (> 104 msec) latencies before therapy. Two of them had clinical exophthalmos. No change was observed after euthyroidism was achieved. On the contrary 7 out of 15 (47%) hypothyroids had abnormally prolonged latencies which became normal in 4 when euthyroidism was achieved. Amplitude was lower than normal in 6 and became normal only in one of them after treatment. None of the hyperthyroid patients had amplitude changes. In conclusion, hypothyroid patients may have changes in the amplitude and/or the latency of visual evoked potentials which are reversible to a great extent with thyroxine. Evoked potentials is another method of studying in humans the metabolic effects of thyroxine deficiency in CNS.
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PMID:Visual evoked potentials in hypothyroid and hyperthyroid patients before and after achievement of euthyroidism. 149 Nov 23

Congenital hypothyroidism (IC) is the most frequent endocrine disease of the infancy and it is caused by primary deficiency of thyroid hormones. The damages derived by protracted hormone deficiency are diffused to all organs and systems and particularly severe for the development of central nervous system. Mental retardation can be prevented by early diagnosis and therapy. Early diagnosis is assured by neonatal thyroid screening performed on all newborns in the first days of life. The progress report on the screening situation in Italy as well as the national coordination realized in this field are presented.
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PMID:[Congenital hypothyroidism: organization and coordination of neonatal screening in Italy]. 175 85

Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Thyroid hormone deficiency in utero and in the first neonatal months is responsible for permanent damage. While foetal hypothyroidism is at present unavoidable, earlier diagnosis and initiation of treatment in neonates with CH is important and highly recommended. At the moment, the Italian screening program for CH allows diagnosis and treatment within the first month of life. In Italy, screening programs became obligatory only a short time ago. In some regions, they started a few years ago, whereas in others they have been carried out only in an irregular way and only a part of the population has been investigated. Therefore CH was diagnosed just on the basis of clinical signs, with a consequent delay in the initiation of substitutive therapy. We describe the case of a little girl with CH diagnosed when she was three years old. We report the results of this case follow-up study and we describe the features of her neuropsychological development to point out her improvement and permanent disorders. The little girl was clearly hypothyroid with delayed achievement at three, but with pharmacological treatment she showed a dramatic amelioration in growth, language, motor skills and cognitive performances.
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PMID:[Missed diagnosis: a case of congenital hypothyroidism treated after three years]. 913 64

Kenny syndrome is rare. Clinical feature include severe dwarfism, growth retardation macrocephaly, episodic hypocalcemia, internal cortical thickening and medullary stenosis of tubular bones. Genetic and phenotypic polymorphisms are characteristic. We report the observation of a Tunisian girl with the arabic variant of Kenny syndrome. She had chronic hypoparathyroidism, classic dwarfism, short stature with hormone deficiency, mental retardation and low helper/suppressor ratio. Our patient had two sisters and one brother with the same dysmorphic face and a marked intra-uterine growth retardation. They died from severe infections. Hypoparathyroidism was established in one sister.
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PMID:[Arabian variant of Kenny syndrome: a familial case in Tunisia]. 1639 87

We report on a 26-year-old patient presenting with extremely short stature (height 72cm, weight 6.5kg, OFC 42.5cm), facial dysmorphism, cleft lip--palate, severe mental retardation and de novo 1q24.2--q25.2 and 12q24.31 interstitial deletion. He was the only child of non-consanguineous parents and his birth length was 43cm. He had severe feeding difficulties and required enteral nutrition until the age of 3 years. Standard cytogenetic analysis showed an apparently balanced de novo translocation t(1;12)(q24;q24). Endocrine studies at 11 years of age for severe growth retardation revealed multiple pituitary hormone deficiency with severe growth hormone deficiency, but the child was untreated because of associated mental retardation. At 26 years of age, he could not walk or speak and had no signs of puberty. Investigations revealed spondylo-epi-metaphyseal dysplasia with severe osteoporosis, enlarged aorta when compared to the patient's size and apparently normal pituitary development. High resolution karyotype showed a 1q24-q25 deletion, and comparative genomic hybridization studies confirmed the 1q interstitial deletion. FISH studies of both breakpoints using PACs and BACs enabled us to further characterize the 1q interstitial deletion (1q24.2-1q25.2) and also revealed a 12q24.31 interstitial microdeletion. This case is compared with previously reported patients with similar deletions, but the untreated pituitary deficiency could also be responsible in part for the severity of the growth deficiency. This observation is of interest for two reasons. First, these deletions could be a clue in the search for a gene responsible for growth hormone deficiency/midline defects. Second, it shows the importance of molecular cytogenetics in the study of de novo apparently balanced translocation with abnormal phenotype.
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PMID:Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24). 1772 Jun 46

Interactions between brain, psyche and thyroid are known from historical descriptions of thyroidectomy (Kocher) and hyperthyroidism. However, their importance is often underscored in clinical routine. Thyroid hormone deficiency during pregnancy may result in irreversible mental retardation and requires levothyroxine substitution. TSH screening after delivery must identify newborns with congenital hypothyroidism: An early levothyroxine substitution and long term therapy control are required. Hypothyroidism and depression have many symptoms in common. Cognitive deficits and depressive states are often found in overt hypothyroidism, psychotic derangements are rare. Levothyroxine improves hypothyroid symptoms and mental performance, mood and motivation. Psychic symptoms of hyperthyroidism include agitation, irritability, mood disturbances, hyperactivity, anxiousness and even panic attacks. Manic and delusional states are rare. In geriatric patients hyperthyroidism may be oligosymptomatic. In psychiatric patients more frequent but unspecific disturbances of thyroid laboratory values being reversible without specific therapy have to be distinguished from rather rare but causative organic thyroid diseases with therapeutic consequences. Some psychiatric drugs influence thyroid laboratory results. Hypothyroidism in depressive patients is a negative prognostic parameter and requires therapy. Psychiatric symptoms associated with hypothyroidism are usually reversible under levothyroxine within 4-8 weeks. The standard for hypothyroidism is mono-levothyroxine therapy.
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PMID:[Interactions between brain, psyche and thyroid]. 1905 95

Agenesis of internal carotid artery (ICA) is an unusual finding in subjects with congenital Combined Pituitary hormone deficiency (CPHD) with only nine cases being reported to date but to our best knowledge none of them was genetically investigated. A 10-years old girl presented with severe growth failure (height 103 cm) with substantial bone age delay (3 years). She had no history of perinatal insults or familial CPHD. There was no evidence of mental retardation or craniofacial dysmorphism or ophtalmological abnormalities. She was first diagnosed with GH and TSH deficiency. Cerebral magnetic resonance imaging (MRI) showed hypoplastic anterior pituitary, flat sella turcica, absent pituitary stalk with ectopic posterior pituitary as well as agenesis of the left ICA and the left carotid canal. Genomic analysis of pituitary transcription factor HESX1, LHX4 and OTX2 showed no mutations. Treatment with GH and thyroxine was started. The patient remained free of neurovascular symptoms for 5 years but she presented at the age of 15 years with delayed puberty related to an evolving gonadotropin deficiency. ICA agenesis associated with CPHD is unusual and is often asymptomatic in children. Since the CPHD with pituitary stalk interruption cannot be due to HESX1, LHX4 or OTX2 mutation in our case, other pathogenetic mechanisms may be responsible for CPHD associated with unilateral ICA agenesis.
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PMID:Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report. 2279 3

We describe four phenotypically different brothers who share the same microduplication of Xq27.1, which contains the SOX3 gene. SOX3 mutations have been associated with growth hormone deficiency, variable degrees of additional pituitary hormone deficiencies, and mental retardation. SOX3 also appears to play an important role in pharyngeal arch segmentation that gives rise to craniofacial structures. While these four brothers have inherited the same mutation, they manifest a spectrum of phenotypes, ranging from complete, multiple pituitary hormone deficiencies to no apparent pituitary hormone deficiency with or without craniopharyngeal/facial dysmorphisms. We look to the literature to provide putative explanations for the variable expression of the brothers' shared SOX3 mutation.
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PMID:Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene. 2635 83