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    Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy
    (W B Saunders Co-Elsevier Inc, 2017) Akinci, Baris; Onay, Huseyin; Demir, Tevfik; Savas-Erdeve, Senay; Gen, Ramazan; Simsir, Ilgin Yildirim; Keskin, Fatma Ela; Erturk, Mehmet Sercan; Uzum, Ayse Kubat; Yaylali, Guzin Fidan; Ozdemir, Nilufer Kutbay; Atik, Tahir; Ozen, Samim; Yurekli, Banu Sarer; Apaydin, Tugce; Altay, Canan; Akinci, Gulcin; Demir, Leyla; Comlekci, Abdurrahman; Secil, Mustafa; Oral, Elif Arioglu
    Objective. Familial partial lipodystrophy (FPLD) is a rare genetic disorder characterized by partial lack of subcutaneous fat. Methods. This multicenter prospective observational study included data from 56 subjects with FPLD (18 independent Turkish families). Thirty healthy controls were enrolled for comparison. Results. Pathogenic variants of the LMNA gene were determined in nine families. Of those, typical exon 8 codon 482 pathogenic variants were identified in four families. Analysis of the LMNA gene also revealed exon 1 codon 47, exon 5 codon 306, exon 6 codon 349, exon 9 codon 528, and exon 11 codon 582 pathogenic variants. Analysis of the PPARG gene revealed exon 3 p.Y151C pathogenic variant in two families and exon 7 p.H477L pathogenic variant in one family. A non-pathogenic exon 5 p.R215Qvariant of the LMNB2 gene was detected in another family. Five other families harbored no mutation in any of the genes sequenced. MRI studies showed slightly different fat distribution patterns among subjects with different point mutations, though it was strikingly different in subjects with LMNA p.R349W pathogenic variant. Subjects with pathogenic variants of the PPARG gene were associated with less prominent fat loss and relatively higher levels of leptin compared to those with pathogenic variants in the LMNA gene. Various metabolic abnormalities associated with insulin resistance were detected in all subjects. End-organ complications were observed. Conclusion. We have identified various pathogenic variants scattered throughout the LMNA and PPARG genes in Turkish patients with FPLD. Phenotypic heterogeneity is remarkable in patients with LMNA pathogenic variants related to the site of missense mutations. FPLD, caused by pathogenic variants either in LMNA or PPARG is associated with metabolic abnormalities associated with insulin resistance that lead to increased morbidity. (C) 2017 Elsevier Inc. All rights reserved.
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    Clinical, biochemical and genetic features with nonclassical 21-hydroxylase deficiency and final height
    (Walter De Gruyter Gmbh, 2017) Savas-Erdeve, Senay; Cetinkaya, Semra; Abali, Zehra Yavas; Poyrazoglu, Sukran; Bas, Firdevs; Berberoglu, Merih; Siklar, Zeynep; Korkmaz, Ozlem; Bulus, Derya; Akbas, Emine Demet; Guran, Tulay; Bober, Ece; Akin, Onur; Yilmaz, Gulay Can; Aycan, Zehra
    Background: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. Methods: This multicenter, nationwide web-based study collected data. Results: The mean age was 9.79 +/- 4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 mu g/dL in three (15.45%) patients. A mutation was detected in the CYP21A2 gene of 182 (87.5%) patients. The most common mutation was V281L. Final height in female patients who were diagnosed and treated before attaining final height or near final height was found to be shorter than the final height in female patients who were diagnosed after attaining final height or near final height. Conclusions: The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period.