Turner syndrome and associated problems in turkish children: A multicenter study

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosi) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto’s thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan. © Journal of Clinical Research in Pediatric Endocrinology

Persistent hyperinsulinaemic hypoglycaemia of infancy: case report.

Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaemia in infancy. Because of persistent hypoglycaemia, serious difficulties are encountered in the long term management of this condition. A male neonate, after an uncomplicated full-term pregnancy, had been admitted to another hospital with convulsions on the third post-natal day. Meningitis had been suspected at that time and treated with phenobarbital and he had been discharged from the hospital. At three-months old he was referred to our department for persistent convulsions and lethargy. His parents were of 1st degree consanguinity. His blood glucose level was found to be 24 mg/dl (1.33 mmol/L). Because of the dangerously high insulin level during hypoglycaemia (insulin/glucose > 0.3), the absence of ketonuria, and the need for a high dose of glucose infusion (> 15 mg/kg/min) to achieve normoglycaemia and a glycaemic response to glucagon despite the hypoglycaemia, a diagnosis of persistent hyperinsulinaemic hypoglycaemia of infancy was made. Since maximal doses of prednisone, glucagon, diazoxide, octreotide and high infusion of glucose were ineffective in achieving normoglycaemia, a subtotal (80%) pancreatectomy was done. Postoperatively intermittent hypoglycaemic episodes continued. These were controlled with low doses of octreotide. Histology revealed diffuse adenomatous hyperplasia (nesidoblastosis). The boy is now in the sixth post-operative month and developing normally

PERSISTENT HYPERINSULINAEMIC HYPOGLYCAEMIA OF INFANCY: CASE REPORT

Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemichypoglycaemia in infancy. Because of persistent hypoglycaemia, serious difficulties areencountered in the long term management of this condition. A male neonate, after anuncomplicated full-term pregnancy, had been admitted to another hospital withconvulsions on the third post-natal day. Meningitis had been suspected at that timeand treated with phenobarbital and he had been discharged from the hospital. At threemonthsold he was referred to our department for persistent convulsions and lethargy.His parents were of 1st degree consanguinity. His blood glucose level was found to be24 mg/dl (1.33 mmol/L). Because of the dangerously high insulin level during hypoglycaemia(insulin/glucose >0.3), the absence of ketonuria, and the need for a high dose of glucoseinfusion (> 15 mg/kg/min) to achieve normoglycaemia and a glycaemic response toglucagon despite the hypoglycaemia, a diagnosis of persistent hyperinsulinaemichypoglycaemia of infancy was made. Since maximal doses of prednisone, glucagon,diazoxide, octreotide and high infusion of glucose were ineffective in achievingnormoglycaemia, a subtotal (80%) pancreatectomy was done. Postoperatively intermittenthypoglycaemic episodes continued. These were controlled with low doses of octreotide.Histology revealed diffuse adenomatous hyperplasia (nesidoblastosis). The boy is nowin the sixth post-operative month and developing normally

Persistent hyperinsulinaemic hypoglycaemia of infancy: Case report

Hyperinsulinism, although rare, is the most common cause of persistent hyperinsulinaemic hypoglycaemia in infancy. Because of persistent hypoglycaemia, serious difficulties are encountered in the long term management of this condition. A male neonate, after an uncomplicated full-term pregnancy, had been admitted to another hospital with convulsions on the third post-natal day. Meningitis had been suspected at that time and treated with phenobarbital and he had been discharged from the hospital. At three-months old he was referred to our department for persistent convulsions and lethargy. His parents were of 1st degree consanguinity. His blood glucose level was found to be 24 mg/dl (1.33 retool/L). Because of the dangerously high insulin level during hypoglycaemia (insulin/glucose <0.3), the absence of ketonuria, and the need for a high dose of glucose infusion (< 15 mg/kg/min) to achieve normoglycaemia and a glycaemic response to glucagon despite the hypoglycaemia, a diagnosis of persistent hyperinsulinaemic hypoglycaemia of infancy was made. Since maximal doses of prednisone, glucagon, diazoxide, octreotide and high infusion of glucose were ineffective in achieving normoglycaemia, a subtotal (80%) pancreatectomy was done. Postoperatively intermittent hypoglycaemic episodes continued. These were controlled with low doses of octreotide. Histology revealed diffuse adenomatons hyperplasia (nesidoblastosis). The boy is now in the sixth post-operative month and developing normally