Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps

Artikel in diesem Heft

1. Frontmatter
2. Review article
3. Towards an optimization of the management of endocrine complications of thalassemia
4. Original articles
5. The natural course of Hashimoto’s thyroiditis in children and adolescents
6. Muscle strength and body composition during the transition phase in patients treated with recombinant GH to final height
7. Benign vaginal bleeding in 24 prepubertal patients: clinical, biochemical and imaging features
8. Evaluation of epicardial adipose tissue, carotid intima-media thickness and ventricular functions in obese children and adolescents
9. Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty
10. Pubertal development profile in patients with Turner syndrome
11. A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder
12. Serum insulin-like growth factor-binding protein-3 level correlated with glycemic control and lipid profiles in children and adolescents with type 1 diabetes
13. Adult human liver mesenchymal progenitor cells express phenylalanine hydroxylase
14. Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5′ exonuclease based assay
15. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
16. Permanent neonatal diabetes mellitus in Jordan
17. The effect of adenotonsilectomy on ghrelin, leptin, IGF-1 levels and growth parameters in children with adenotonsillar hypertrophy
18. The role of anti-Mullerian and inhibin B hormones in the evaluation of 46,XY disorders of sex development
19. The evaluation of thyroid carcinoma in childhood and concomitance of autoimmune thyroid disorders
20. Lipid patterns in treated growth hormone deficient children vs. short stature controls
21. Assessment of aortic morphology and compliance in children and adolescents with Ullrich-Turner syndrome (UTS) using magnetic resonance imaging (MRI)
22. Management of central diabetes insipidus with oral desmopressin lyophilisate in infants
23. Maternal factors and complications of preterm birth associated with neonatal thyroid stimulating hormone
24. Patient reports
25. A rare case of pituitary infarction leading to spontaneous tumour resolution and CSF-sella syndrome in an 11-year-old girl and a review of the paediatric literature
26. Rare case of homozygous epimerase deficiency and heterozygous of duarte 2 variant
27. Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p
28. Growth hormone treatment in a patient with Hurler-Scheie syndrome
29. Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction
30. Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome
31. Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus
32. Cushing’s syndrome: hidden risk in usage of topical corticosteroids
33. Prader-Willi syndrome: a case report with atypical developmental features
34. Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps
35. Ectopic Cushing syndrome secondary to metastatic medullary thyroid cancer in a child with multiple endocrine neoplasia syndrome type 2B: clues to early diagnosis of the paraneoplastic syndromes
36. Ovarian hyperstimulation syndrome treated by medroxyprogesterone acetate
37. Symptomatic cerebral infarction in a child with severe diabetic ketoacidosis
38. A rare case of familial Cushing’s syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease
39. Multiple autoimmunity, type 1 diabetes (T1DM), autoimmune thyroiditis and thyroid cancer: is there an association? A case report and literature review
40. Cholestasis and protein-losing enteropathy secondary to hyperthyroidism in a 6-year-old girl
41. Short communication
42. An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis
43. Letter to the Editor
44. Pubertal gynecomastia: what about the remaining 10%?