Clinical characteristics and growth hormone treatment in patients with prader-willi syndrome

Objective: To investigate clinical characteristics and response to growth hormone (GH) treatment in patients with Prader-Willi syndrome (PWS) in Turkey. Methods: The data of 52 PWS patients from ten centers was retrospectively analyzed. A nation-wide, web-based data system was used for data collection. Demographic, clinical, genetic, and laboratory data and follow-up information of the patients were evaluated. Results: The median age of patients at presentation was 1.5 years, and 50% were females. Genetic analysis showed microdeletion in 69.2%, uniparental disomy in 11.5%, imprinting defect in 1.9% and methylation abnormality in 17.3%. Hypotonia (55.7%), feeding difficulties (36.5%) and obesity (30.7%) were the most common complaints. Cryptorchidism and micropenis were present in 69.2% and 15.3% of males, respectively. At presentation, 25% had short stature, 44.2% were obese, 9.6% were overweight and 17.3% were underweight. Median age of obese patients was significantly higher than underweight patients. Central hypothyroidism and adrenal insufficiency were present in 30.7% and 4.7%, respectively. Hypogonadism was present in 75% at normal age of puberty. GH treatment was started in 40% at a mean age of 4.7±2.7 years. After two years of GH treatment, a significant increase in height SDS was observed. However, body mass index (BMI) standard deviation (SDS) remained unchanged. Conclusion: The most frequent complaints were hypotonia and feeding difficulty at first presentation. Obesity was the initial finding in 44.2%. GH treatment was started in less than half of the patients. While GH treatment significantly increased height SDS, BMI SDS remained unchanged, possibly due to the relatively older age at GH start. Keywords: Prader-Willi syndrome, endocrine dysfunction, growth hormone treatment, body compositio

Volume CXIV, Number 4, November 7, 1996

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 stenosis) 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 lifespa

Rathke Cleft Cyst in Seven Year-old Girl Presenting with Central Diabetes Insipidus and Review of Literature

EVLIYAOGLU, CETIN AYHAN/0000-0002-1774-3084WOS: 000279510100017PubMed: 20662355Rathke cleft cysts (RCC) are benign cysts derived from remnants of Rathke cleft, and are rarely symptomatic in children. Symptoms due to RCC are associated with mass effect and pituitary hormone deficiencies. Slow growth rate of the cyst makes its incidence increase with aging. Here we report on a seven year old girl who presented with central diabetes insipidus (CDI). Her sella MRI revealed a lesion in the sellar region which grew rapidly in follow-up. She underwent microneurosurgical operation and the lesion was totally excised. Pathologic examination revealed RCC with degenerative changes. In her follow-up, growth hormone deficiency developed in addition to arginine vasopressin deficiency. Rapid growth of the cyst is not the usual course of RCC's. Mechanisms regarding the cyst growth are unclear as they are in this case. This is the youngest child to date presenting with central diabetes insipidus due to RCC. Rapid growth of RCC can cause CDI in young children

Estrogen Treatment in Children

WOS: 000269529000006Estrogen treatment is rarely indicated during childhood. A limited number of patients requires either topical or systemic estrogens in selected cases. Labial adhesions in which the labia minora fused over the vestibule is the most common indication for topical estrogen treatment in children. Although the most accepted theory of labial adhesions is low estrogen levels, the use of topical estrogen treatment is still controversial. The systemic application of estrogen is used in girls with hypogonadism. Either in hypo or hypergonadotropic hypogonadism, low doses of estrogen treatment is initiated at pubertal age as a replacement treatment, to mimic normal puberty. In Turner syndrome, which is an example of hypergonadotropic hypogonadism, estrogen treatment should be also initiated at pubertal age in addition to growth hormone replacement. Although in girls, 'constitutional growth and pubertal delay' is not observed as frequently as in boys, very low doses of estrogen therapy for a short duration can be considered to induce normal puberty. Another indication of systemic estrogen treatment is for tall stature in carefully selected cases to fuse epiphysis. Though topical estrogen treatment in labial adhesions is preferred and used by many practitioners, systemic use of this hormonal therapy is only constituted by pediatric endocrinologists. In this chapter, our aim is to discuss the estrogen treatment in children with special emphasis on indications, treatment doses and results

Menstrual cycle disorders in adolescence

In adolescence, for the initiation of normal menstrual cycle hypothalamo-pituitary-ovarian axis should be intact in addition to good general health, different disorders can cause primary-secondary amenorrhea or menstrual irregularities. The first two years after menarche is generally anovulatory thus in normal adolescents in the first years of menstrual life irregularities in menstrual cycle and menstrual blood flow can be observed. Physiology of normal menstrual cycle, menstrual disorders, their diagnosis and treatment are discussed in this review. (Turk Arch Ped 2010; 45: 6-12

Urine iodine levels and prevelance of goitre in school children in Kirikkale

WOS: 000259785600744