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)

Three families presenting one or several cases of brain or ophthalmic abnormalities and an hypopituitarism at least by one of the members have been observed. In the first family, the mother and one of her sons present bilateral choroidoretineal coloboma with amblyopia; one of these two suffers as well from panhypopituitarism. In the second family two premature twins, a brother and his sister, present a syndrome with hypophyseal dwarfism and ophthalmic abnormalities, consisting in the boy's case in an peripapillary depigmentation with no visible sight trouble whereas girl's is showing an extreme microphthalmia with major mental retardation. In the third family two 2nd degree cousins present a panhypopituitarism but only one of the two reveals through neuroradiological investigations corpus callosum and septum lucidum agenesia. The karyotype is normal in all the cases. An hereditary mechanism appears clearly in the first family. It is possible in the second, probable in the third one.
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PMID:[Cerebral and ocular abnormalities with anterior pituitary insufficiency of familial nature]. 392 Mar 52

We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary.
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PMID:X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26. 910 38

We present a child with Lenz dysplasia associated with panhypopituitarism. Lenz dysplasia is characterized by small eyeball, small head, hydronephrosis, cleft lip and palate, and mental retardation. A 12 month-old boy with Lenz dysplasia was scheduled for plasty of the lip and basis of the nasal cavity under general anesthesia. We had to pay attention for airway management and hormone supplementation. Anesthesia was induced with sevoflurane and nitrous oxide in oxygen. Tracheal intubation was facilitated with vecuronium bromide. We had no difficulty in airway management. Since this patient could not release enough endogenous cortisol in response to the stress of surgery, we supplemented hydrocortisone after anesthesia induction. Urine output and serum electrolyte concentrations were carefully monitored during surgery because of the impaired ADH response. We encountered no complications in the anesthetic management of this patient.
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PMID:[Anesthetic management of a child with Lenz dysplasia associated with panhypopituitarism]. 978 90

Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism associated with mental retardation (MR). Additionally, an expansion of a polyalanine tract (by 11 alanines) within the transcription factor SOX3 (Xq27.1) has been reported in patients with growth hormone deficiency and variable learning difficulties. We report a submicroscopic duplication of Xq27.1, the smallest reported to date (685.6 kb), in two siblings with variable hypopituitarism, callosal abnormalities, anterior pituitary hypoplasia (APH), an ectopic posterior pituitary (EPP), and an absent infundibulum. This duplication contains SOX3 and sequences corresponding to two transcripts of unknown function; only Sox3 is expressed in the infundibulum in mice. Next, we identified a novel seven-alanine expansion within a polyalanine tract in SOX3 in a family with panhypopituitarism in three male siblings with an absent infundibulum, severe APH, and EPP. This mutation led to reduced transcriptional activity, with impaired nuclear localization of the mutant protein. We also identified a novel polymorphism (A43T) in SOX3 in another child with hypopituitarism. In contrast to findings in previous studies, there was no evidence of MR or learning difficulties in our patients. We conclude that both over- and underdosage of SOX3 are associated with similar phenotypes, consisting of infundibular hypoplasia and hypopituitarism but not necessarily MR.
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PMID:Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. 1580 Aug 44

The authors report the case of a 12-year-old girl with Pallister-Hall syndrome, long-standing refractory, symptomatic epilepsy, mental retardation, and panhypopituitarism in whom two rare, deep midline lesions were detected. She underwent successful transsphenoidal resection of the Rathke cleft cyst and transcallosal resection of the hypothalamic hamartoma within a 4-day period without complications. Neuropathological studies confirmed the neuroimaging diagnoses for the two lesions. The patient has been seizure free for 6 months postoperatively.
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PMID:Successful resection of a hypothalamic hamartoma and a Rathke cleft cyst. Case report. 1620 38

A 15-year-old male presented with ichthyosis since infancy with panhypopituitarism, short stature and knock-knees, delayed puberty, high scrotal retractile testes, mental retardation and corneal opacities. He developed recurrent tinea capitis and tinea corporis. The clinical symptomatology indicates that this case cannot be considered as a subtype of inherited ichthyosis group, but suggests a new syndrome as a separate nosologic entity. Two previously reported cases with possibly the same syndrome also had ichthyosis associated with variable endocrinopathy. Thorough endocrinological evaluation and appropriate intervention in patients of ichthyosis with short stature may reduce the morbidity associated with retarded skeletal growth and gonadal maturation.
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PMID:A novel congenital ichthyosiform syndrome with associated panhypopituitarism, corneal opacities and mental retardation. 1778 59

Duplications involving portions of the long arm of the X-chromosome can be associated with mental retardation, short stature, microcephaly, panhypopituitarism, and a wide range of physical findings. Less common are duplications in distal Xq associated with hemihyperplasia and digital anomalies. We report on a 4-year-old female with hemihyperplasia, syndactyly of fingers and toes, bilateral 5th finger clinodactyly, short stature, developmental delay, and microcephaly associated with an 11.2 Mb duplication of Xq25-Xq27.1. The boundaries of this duplication were mapped using high resolution array comparative genome hybridization and follow-up studies revealed that the same duplication was carried by the patient's mother who has short stature and cognitive disabilities. Using the duplication boundaries from this case, and data from previously published reports, we have delineated a 1.65 Mb critical region for hemihyperplasia and digital anomalies on chromosome Xq25. Based on these findings physicians should consider obtaining array comparative genome hybridization studies on individuals with hemihyperplasia especially when accompanied by digital findings since identification of an Xq25 duplication can dramatically change recurrence risk estimations and may also provide insight into the possible comorbidities.
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PMID:Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25. 2010 93

Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). Yet, pathogenic point mutations seem to be extremely rare. We report a family with three affected males with several clinical features including mild intellectual disability, microphthalmia, coloboma, hypopituitarism, facial dysmorphology and dental anomalies, including microcephaly, retrognathia and a solitary median maxillary central incisor amongst other features. Using Whole Exome Sequencing a missense variant in SOX3, NM_005634.2:c.449C>A; p.(Ser150Tyr) was identified. Segregation analysis in the family demonstrated that the variant was inherited through healthy females with its origin in the maternal grandmother showing germline mosaicism. Thus, we report one of the first cases of a pathogenic variant in SOX3 and germline mosaicism of this variant.
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PMID:A complex phenotype in a family with a pathogenic SOX3 missense variant. 2917 58