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]

The association with mental retardation is also typically present, more frequently in SOX3 duplication than in mutations. [hormones.gr]

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]

The fourth sibling presented at age 9 years with deficiencies of GH (peak GH 2.8 ng/ml) and basal cortisol (12.1 micro/dl) concentrations. [cags.org.ae]

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]

• 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]

• Pharyngitis

  Arzneimittelinteraktionscheck]] [[Arzneimittelnebenwirkung (idiosynkratisch)]] [[Arzoxifene ttSERM]] [[Arzt Berufsbild und Standeskunde]] [[Arzt Patienten Interaktion]] [[Arztbrief]] [[AS1411 ttNucleolin]] [[AS1928370 ttTRPV1]] [[ASA404]] [[Asbest]] [[Ascariasis]] [[Ascending Pharyngeal [kidney.de]

• Arthritis

  (Hefen und Pilze)]] [[Arthritis (juvenil idiopathisch)]] [[Arthritis (NOD2 assoziiert)]] [[Arthritis (reaktive)]] [[Arthritis (rheumatoide)]] [[Arthritis (septische)]] [[Arthritis (Seronegativ)]] [[Arthritis (Tiermodell)]] [[Arthrogryposis multiplex [kidney.de]

• Strabismus

  […] dominant type, 15 mental retardation autosomal dominant type, 4 mental retardation autosomal recessive type 7 mental retardation syndromic X-linked type 14 mental retardation X-linked SYP-related mental retardation, anterior maxillary protrusion, and strabismus [medical-dictionary.thefreedictionary.com]

• Visual Impairment

  XLID Syndromes with Ocular Anomalies and/or Visual Impairment ; V. XLID Syndrome with Hearing Loss ; VI. XLID Syndromes with Facial Clefting ; VII. XLID Syndromes with Cardiac Malformations or other Cardiovascular Abnormalities ; VIII. [amazon.de]

• Hyperpigmentation

  * palms and soles hyperkeratosis, trunk neck show mixture hyperpigmentation, hypopigmentation, atrophy, telan-giectasia, nails become, split,. * Alopecia lesions develop trauma, leukoplakia occurs malignancies in areas cutaneous changes. * Fitzsimmons [factpub.org]

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]

Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions . [patient.info]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Based on these findings, rhGH treatment was conducted (0.23 mg/kg per week subcutaneously). [hormones.gr]

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 This syndrome is X-linked recessive and results from mutations in the ATRX gene. This gene encodes the widely expressed ATRX protein. [orpha.net]

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]

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]

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]

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

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]

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]