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Summary
WOODHOUSE-SAKATI SYNDROME
HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME
241080
OMIM = Online Medalian Inheritance of Men
3464
2q31.1
rare
autosomal recessive
symptoms
alopecia
amenorrhea
craniofacial anomalies
diabetes mellitus
dysarthria
dystonia
extrapyramidal signs
hair, abnormal (thin, brittle, fine)
hearing defect, deafness
hypogonadism
hypothyroidism
intellectual disability/intellectual developmental disorder (ID/ IDD)
mental retardation
micropenis
onset, childhood
ovarian failure
psychosis
laboratory finding
Testosterone decreasedserum
MRI, brain, abnormalities -
Estradiol serum
Thyroid-stimulating hormone (TSH) increasedserum
Thyroxine (T4) decreasedserum
ECG abnormalities -
Insulin-like growth factor I(IGF-I) decreasedserum
Literature
Faller N,Gautschi I, Schild LFunctional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea.PLoS One94942672014
Janecke AR,Heinz-Erian P, Mueller TCongenital Sodium Diarrhea: a Form of Intractable Diarrhea, with a Link to Inflammatory Bowel DiseaseJ Pediatr Gastroenterol Nutr632170-1762016
Haeberle J,et al.Natural course of glutamine synthetase deficiency in a 3 year old patientMol Genet Metab103189-912011