No abstract available.
Ghrelin* ; Prader-Willi Syndrome*

No abstract available.
Ghrelin* ; Prader-Willi Syndrome*

Prader Willi Syndrome (PWS) includes complex endocrinological issues because of the hypothalamic and pituitary dysfunction which include obesity and diabetes, as well as behavioural issues. Other important aspects of PWS, such as hepatosplenomegaly are sometimes neglected. We present a case of diabetic ketoacidosis precipitated by torsion of a wandering spleen in a 22-year-old woman with PWS and type 2 diabetes mellitus. The pancreatic tail was involved in the torsion leading to hyperamylasaemia and pancreatitis. The splenic torsion and pancreatitis were initially treated conservatively with resolution of symptoms. A year later, she had another 2 episodes of severe abdominal pain due to worsening splenic torsion which subsided with conservative management. She subsequently underwent an elective splenectomy which revealed an enlarged and wandering spleen, with 720 degrees torsion of the long splenic pedicle.
Prader-Willi Syndrome

Humans ; Prader-Willi Syndrome/therapy*

No abstract available.
Humans ; Prader-Willi Syndrome ; Temporal Arteries

Central precocious puberty (CPP) is caused by the premature reactivation of the hypothalamic-pituitary-gonadal axis. Genetic, nutritional, and environmental factors play a crucial role in determining pubertal timing. Recently mutations in kisspeptin (KISS1), kisspeptin receptor (KISS1R), and makorin RING finger protein 3 (MKRN3) genes have been identified as genetic causes of CPP. In particular, the MKRN3 gene is known to affect pubertal initiation. The MKRN3 gene is located on chromosome 15q11-q13 in the Prader-Willi syndrome (PWS) critical region. MKRN3 deficiency, due to a loss of function mutation, leads to the withdrawal of hypothalamic inhibition and prompts pulsatile gonadotropin-releasing hormone secretion, resulting in precocious puberty. The exact functions of these genes associated with CPP are still not well understood. Larger studies are required to discover the mechanisms involved in pubertal development.
Fingers ; Gonadotropin-Releasing Hormone ; Kisspeptins ; Prader-Willi Syndrome ; Puberty, Precocious*

Central precocious puberty (CPP) is caused by the premature reactivation of the hypothalamic-pituitary-gonadal axis. Genetic, nutritional, and environmental factors play a crucial role in determining pubertal timing. Recently mutations in kisspeptin (KISS1), kisspeptin receptor (KISS1R), and makorin RING finger protein 3 (MKRN3) genes have been identified as genetic causes of CPP. In particular, the MKRN3 gene is known to affect pubertal initiation. The MKRN3 gene is located on chromosome 15q11-q13 in the Prader-Willi syndrome (PWS) critical region. MKRN3 deficiency, due to a loss of function mutation, leads to the withdrawal of hypothalamic inhibition and prompts pulsatile gonadotropin-releasing hormone secretion, resulting in precocious puberty. The exact functions of these genes associated with CPP are still not well understood. Larger studies are required to discover the mechanisms involved in pubertal development.
Fingers ; Gonadotropin-Releasing Hormone ; Kisspeptins ; Prader-Willi Syndrome ; Puberty, Precocious*

China ; Disease Management ; Humans ; Prader-Willi Syndrome ; diagnosis ; therapy

PURPOSE: The objectives were to examine following 2 questions related to cognitive profile for the children with Williams syndrome (WS); 1) Is there a significant advantage for verbal IQ over performance IQ in WS?; 2) Is there selective impairment in visuospatial ability in the children with WS? MATERIALS AND METHODS: Five children with WS with the age of 90.86+/-20.73 months were compared with 12 children with Prader-Willi syndrome (PWS) or Down syndrome (DS) with comparable age and IQ. RESULTS: All 5 children with WS showed intellectual disability whose mean scaled scores were 15.71+/-9.27 in verbal subtests and 14.29+/-7.50 in performance subtests, which did not show significant difference. There was no significant difference in the total sum of scaled scores of verbal subtests among WS, PWS and DS. There was no selective impairment in subtests which represented visuospatial tasks for the children with WS. However, the scaled score of object assembly was significantly lower in WS (2.29+/-0.95) compared to that of PWS (4.75+/-2.77; P<0.05). CONCLUSION: The general notion that the children with WS would be relatively strong in verbal function when compared with their overall cognitive function was not observed in this study. The verbal function of the children with WS was not better when compared to the children with DS or PWS. There was no selective impairment of visuospatial function in the children with WS at this age. However, the visuospatial function was significantly low in the children with WS only when compared to the children with PWS.
Child ; Down Syndrome ; Humans ; Imidazoles ; Intellectual Disability ; Nitro Compounds ; Prader-Willi Syndrome ; Williams Syndrome

PURPOSE: Prader-Willi syndrome (PWS) is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might be related to the pathogenesis of microdeletion in PWS. In this study, we investigated birth seasonality in Korean PWS. METHODS: A total of 211 PWS patients born from 1980 to 2014 were diagnosed by methylation polymerase chain reaction at Samsung Medical Center. Of the 211 patients, 138 were born from 2000-2013. Among them, the 74 patients of a deletion group and the 22 patients of a maternal uniparental disomy (UPD) group were compared with general populations born from 2000 using the Walter and Elwood method and cosinor analysis. RESULTS: There was no statistical significance in seasonal variation in births of the total 211 patients with PWS (chi2=7.2522, P=0.2982). However, a significant difference was found in the monthly variation between PWS with the deletion group and the at-risk general population (P<0.05). In the cosinor model, the peak month of birth for PWS patients in the deletion group was January, while the nadir occurred in July, with statistical significance (amplitude=0.23, phase=1.2, low point=7.2). The UPD group showed the peak birth month in spring; however, this result was not statistically significant (chi2=3.39, P=0.1836). CONCLUSION: Correlation with birth seasonality was identified in a deletion group of Korean PWS patients. Further studies are required to identify the mechanism related to seasonal effects of environmental factors on microdeletion on chromosome 15.
Chromosomes, Human, Pair 15* ; Humans ; Methylation ; Parturition* ; Polymerase Chain Reaction ; Prader-Willi Syndrome* ; Seasons* ; Uniparental Disomy