Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

Articles in the same Issue

1. Editorial
2. 10.1515/jpem-2012-0999
3. Reviews
4. Sertoli cell markers in the diagnosis of paediatric male hypogonadism
5. Congenital hypothyroidism
6. Images in Pediatric Endocrinology
7. Autoimmune thyroid disease and allergic contact dermatitis: two immune-related pathologies in the same patient
8. Metformin use in children with obesity and normal glucose tolerance – effects on cardiovascular markers and intrahepatic fat
9. The effects of metformin on inflammatory mediators in obese adolescents with insulin resistance: controlled randomized clinical trial
10. Prevalence of components of the metabolic syndrome according to birthweight among overweight and obese children and adolescents
11. Association of early menarche age and overweight/obesity
12. Serum chitotriosidase activity: is it a new inflammatory marker in obese children?
13. Newer Doppler echocardiography techniques in assessment of heart function in obese patients
14. Effects of a multicomponent wellness intervention on dyslipidemia among overweight adolescents
15. The relation of vitamin D deficiency with puberty and insulin resistance in obese children and adolescents
16. Ultrasonographic description of brain cortex and cingulate sulcus development in Mexican neonates and infants with congenital hypothyroidism
17. GH deficiency during the transition period: clinical characteristics before and after GH replacement therapy in two different subgroups of patients
18. Therapy strategies in vitamin D deficiency with or without rickets: efficiency of low-dose stoss therapy
19. Children with isolated hypospadias have different hormonal profile compared to those with associated anomalies
20. Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD
21. Evaluation of self-assessment of pubertal maturation in boys and girls using drawings and orchidometer
22. Lack of association between seroconversion and catch-up growth in children with celiac disease
23. Changes in carotid artery sonogram in premature adrenarche
24. Patient Reports
25. Delayed diagnosis of adrenal hypoplasia congenita in a patient with a new mutation in the NR0B1 gene
26. Encephalopathy and sinustachycardia in childhood a possible differential diagnosis
27. Difficult treatment of consumptive hypothyroidism in a child with massive parotid hemangioma
28. Androgen receptor CAG and GGN polymorphisms in boys with isolated hypospadias
29. Bilateral bloody nipple discharge in a male infant: sonographic findings and proposed diagnostic approach
30. 49, XXXXY syndrome: an Italian child
31. Intraoperative sonographic localization of a fractured Supprelin implant in a pediatric patient: a case report
32. A girl with Hajdu-Cheney syndrome and premature ovarian failure
33. A case of early-onset obesity, hypocortisolism, and skin pigmentation problem due to a novel homozygous mutation in the proopiomelanocortin (POMC) gene in an Indian boy
34. Hepatic dysfunction is associated with vitamin D deficiency and poor glycemic control in diabetes mellitus
35. Severe hypercalcemia without hypercalciuria in a previously healthy infant
36. Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature
37. A case of diabetes mellitus associated with Rett Syndrome
38. Peripubertal hypoglycemia – an unusual cause
39. A pediatric Conn syndrome case
40. Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome
41. Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features
42. Short Communication
43. Known VDR polymorphisms are not associated with bone mineral density measures in pediatric Cushing disease
44. Meetings
45. Meetings Calendar
46. Prelims
47. Prelims