Edit concept Question Editor Create issue ticket

X-Linked Intellectual Disability with Panhypopituitarism

SOX3


Presentation

  • The association with mental retardation is also typically present, more frequently in SOX3 duplication than in mutations.[hormones.gr]
  • While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites[books.google.com]
  • Patients present with facial hypotonia and a characteristic mouth. Genital abnormalities are observed in 80% of children and range from undescended testes to ambiguous genitalia. Alpha thalassaemia is not always present.[orpha.net]
  • Entry status i Reviewed (UniProtKB/Swiss-Prot) Annotation program Chordata Protein Annotation Program Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Presentation Presentation varies from asymptomatic to acute pituitary failure with acute collapse and coma, depending on the aetiology, rapidity of onset, and predominant hormones involved.[patient.info]
Developmental Delay
  • Related phenotypes are hypothyroidism and global developmental delay[malacards.org]
  • Global developmental delay MedGen UID: 892935 • Concept ID: C4020875 • Pathologic Function A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills[ncbi.nlm.nih.gov]
  • This large rearrangement has been found in a patient with XX male reversal and a complex phenotype that also includes a scrotal hypoplasia, microcephaly, developmental delay, and growth retardation.[uniprot.org]
  • During the first year of life, a mild developmental delay became evident: he sat at 8 months and walked independently at 22 months, while language started at 24 months.[hormones.gr]
  • Disease definition X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia.[orpha.net]
Falling
  • Data records in Research Data Australia fall into one of four access types: Open Data that is readily accessible and reusable.[researchdata.ands.org.au]
  • Its proximal breakpoint falls within the SOX3 regulatory region.[uniprot.org]
Myxedema
  • In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. It may be primary or secondary due to other pituitary disease, or hypothalamic dysfunction.[ncbi.nlm.nih.gov]
Cerebral Palsy
  • Palsy Mental Retardation Counsellor Mental Retardation Diagnostic Assessment Mental Retardation Local Authority Mental Retardation Needs Council mental retardation non-syndromic autosomal recessive 7 Mental Retardation of Unknown Cause mental retardation[medical-dictionary.thefreedictionary.com]
Fishing
  • Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice.[books.google.com]
Overeating
  • Woods KS, Cundall M, Turton J, et al, 2005 Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet 76: 833-849. 11.[hormones.gr]
  • . * as XLID syndrome in single family hypotonia respiratory infections, over 50 families identified [Lubs al., 1999; van Esch al., 2005; Friez al., 2006; del Gaudio al., 2006; Lugtenberg al., 2009]. ----------------------------------------------------[factpub.org]
  • Malforma-tions play a significant health role in over half of the 18 XLIDsyndromes with infant or early childhood lethality.ACKNOWLEDGMENTSThis work was supported in part by NIH grants (NS073854 andHD26202) to CES; MH57840 to RES), the South Carolina[docslide.com.br]
High Arched Palate
  • Variable craniofacial dysmorphism has also been reported, including hypertelorism, epicanthus, synophrys, broad nasal bridge, high-arched palate, long philtrum, cup helices, and coarse facies.[egl-eurofins.com]
Long Arm
Hypertrichosis
  • SOX3 MIM i 300123 phenotype 300833 phenotype 312000 phenotype OpenTargets i ENSG00000134595 Orphanet i 393 46,XX testicular disorder of sex development 90695 Panhypopituitarism 3157 Septo-optic dysplasia spectrum 79495 X-linked congenital generalized hypertrichosis[uniprot.org]
Scotoma
Broad Nasal Bridge
  • Variable craniofacial dysmorphism has also been reported, including hypertelorism, epicanthus, synophrys, broad nasal bridge, high-arched palate, long philtrum, cup helices, and coarse facies.[egl-eurofins.com]
Hyperactivity
  • Although one of these patients exhibited hyperactivity, the absence of ID in some patients 10,17,18 may result from different dosage effects.[hormones.gr]

Treatment

  • See also the following treatment articles: Treatments for Intellectual disabilities Causes See also causal information: Causes of Mental retardation Causes of Intellectual disabilities Causes of Panhypopituitarism Similar Topic Articles Mental retardation[familydiagnosis.com]
  • Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • Based on these findings, rhGH treatment was conducted (0.23 mg/kg per week subcutaneously).[hormones.gr]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.[uniprot.org]
  • Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions .[patient.info]

Prognosis

  • Prognosis Although an increased mortality rate in hypopituitary patients is well documented, the actual cause of the increased mortality is not clear. If relevant hormones are adequately replaced, prognosis in hypopituitarism is good.[patient.info]
  • Prognosis A number of individuals with ATR-X are fit and well in their 30s and 40s. The documents contained in this web site are presented for information purposes only.[orpha.net]

Etiology

  • Etiology Corbett MA, Dudding-Byth T, Crock PA, Botta E, Christie LM, Nardo T, Caligiuri G, Hobson L, Boyle J, Mansour A, Friend KL, Crawford J, Jackson G, Vandeleur L, Hackett A, Tarpey P, Stratton MR, Turner G, Gécz J, Field M J Med Genet 2015 Apr;52[ncbi.nlm.nih.gov]
  • Etiology This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein.[orpha.net]
  • The primary anatomicabnormalities, which provide diagnostic clues to the specific syn-drome and its etiology, can be further divided into generalizedskeletal dysplasias and specific focal skeletal malformations(Tables VI and VII).Long bone deficiencies[docslide.com.br]

Epidemiology

  • Summary Epidemiology So far, 168 patients have been reported. Clinical description Language is usually very limited. Seizures occur in about one third of the cases.[orpha.net]
  • Epidemiology Taken from the results of one study [ 1 ] : The incidence of hypopituitarism is estimated to be 4·2 per 100,000 per year. The prevalence of hypopituitarism is estimated to be 29-45 per 100,000.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • In: Bertrand J, Rappaport R, Sizonenko PC (eds) Pediatric endocrinology–physiology, pathophysiology, and clinical aspects.[link.springer.com]

Prevention

  • CC BY-ND CC-BY-NC-ND Restrictive Licence : A licence preventing reuse of material unless certain restrictive conditions are satisfied. Note licence restrictions, and contact rights holder for permissions beyond the terms of the licence.[researchdata.ands.org.au]
  • Prevention Good obstetric care has reduced the incidence of postpartum hypopituitarism. Radiation therapy that minimises exposure to the pituitary gland reduces incidence and time of onset of hypopituitarism.[patient.info]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!