Senay Savas Erdeve

Utility of ApoB/ApoA1 Ratio for the Prediction of Cardiovascular Risk in Children with Metabolic Syndrome

ObjectiveTo assess whether apoB/apoA1 ratio is associated or not with metabolic syndrome in obese children.MethodsA 198 obese children and 41 healthy control subjects were enrolled in a cross-sectional study. The apoB/apoA1 ratio and other metabolic sydrome components in obese children with/without metabolic syndrome were compared to healthy controls.ResultsThe apoA1 level did not show significant difference (p = 0.664) but apoB level (p = 0.000) and apoB/apoA1 ratio (p = 0.001) were significantly higher in obese group than in control group. Also, the apoB/apoA1 ratio was significantly higher in obese children with metabolic syndrome when compared to obese children without metabolic syndrome (p = 0.007) and showed positive correlation with triglyceride (r = 0.404, p = 0.000) and negative correlation with high-density lipoprotein cholesterol (r = −0.593, p = 0.000).ConclusionsThe apoB/apoA1 ratio is associated with metabolic syndrome in obese children. An elevated apoB/apoA1 ratio may constitute an important feature of the metabolic syndrome. There is a need for long term follow-up studies concerning cardiovascular risk in obese children with metabolic syndrome and high apoB/apoA1 ratio.

Diabetes mellitus with Laron syndrome: case report.

Abstract There are different opinions concerning changes in glucose metabolism in patients with Laron syndrome. In this paper we discuss the treatment results of our patient with Laron syndrome who developed diabetes during late adolescence. A 19-year-old boy with Laron syndrome was referred to our clinic for follow-up. He had been diagnosed with Laron syndrome (LS) at 4 years old and rIGF-1 therapy was initiated. After 4 months the treatment was discontinued. At the age of 17, rIGF-1 therapy was restarted. A height gain of 8.8 cm. was observed during the 2-year treatment period. He was admitted to our hospital at the age of 19 years following discontinuation of the therapy. At that time, his height was 142 cm, and weight for height was 136%. His blood glucose was 85 mg/dL (4.72 mmol/L), insulin was 26.39 pmol/L, and HbA1c was 5.4%. At the age of 20, when he has not been receiving IGF-1 therapy for 1 year, his weight for height was 143 cm. Laboratory evaluation revealed that fasting blood glucose was 176 mg/dL (9.77 mmol/L), fasting insulin was 29.86 pmol/L, and HbA1c was 7.5%. Primary insulin therapy was then initiated. His parents both had a diagnosis of type 2 diabetes. Insulin therapy was switched to oral antidiabetic (OAD) therapy at the end of the second year because of a normal C-peptide level of 0.8 nmol/L under insulin therapy. After 6 months of OAD, HbA1c was 5.7%. The treatment was then switched to IGF-1 therapy, but his blood glucose profile was impaired and OAD therapy was restarted. In conclusion, we observed that genetic susceptibility and abdominal obesity caused type 2 diabetes in this patient. We believe that oral antidiabetic agents and life-style changes may be the appropriate approach when diabetes is developed in LS patients.

Contribution of clinical, metabolic, and genetic factors on hypertension in obese children and adolescents

Abstract The role of ACE gene insertion (I) or deletion (D) polymorphism on blood pressure phenotype is not clear in children. The aim of this work is to examine the association between hypertension and ACE I/D polymorphism, as well as the contribution of clinical and metabolic parameters on blood pressure. The study participants were 199 obese children. Forty-four of them were hypertensive. The hypertensive subjects were older than the normotensive and most of them were pubertal. The prevalence of hypertension in obese subjects with II, ID, and DD genotype was similar. There was no difference between the hypertensive and the normotensive group according to ACE I/D genotype, BMISDS, sex, blood glucose level and total cholesterol levels. In obese children, high IR-HOMA values, puberty, presence of family history for hypertension, hypertriglyceridemia, and low HDLcholesterol, high triglyceride/HDL-cholesterol ratio were found as increased risk factors of hypertension. In obese children and adolescents, blood pressure did not differ by ACE I/D genotype. The presence of family history, puberty, insulin resistance and hypertriglyceridemia constitute important risk factors for developing hypertension.

The Etiology and Clinical Features of Non-CAH Gonadotropin-Independent Precocious Puberty: A Multicenter Study

AIM The causes of gonadotropin-independent precocious puberty are diverse, and often have overlapping clinical and biochemical features. With the exception of congenital adrenal hyperplasia (CAH), disorders that cause gonadotropin-independent precocious puberty (GIPP) are uncommon. The literature is devoid of any large-scale studies on the etiologic distribution of GIPP. The aim of this study was to determine the frequency of each etiology in a cohort of patients with GIPP (excluding those with CAH), and to evaluate the clinical and laboratory features of these patients. MATERIALS AND METHODS This multicenter, nationwide web-based study collected data on patients who presented with non-CAH GIPP in Turkey. RESULTS Data were collected for 129 patients (102 girls and 27 boys) from 29 centers. Based on the data collected, the estimated prevalence of non-CAH GIPP in the studied population was 14 in 1 000 000 children. Functional ovarian cyst was the most common etiology, accounting for 37% of all cases, followed by McCune-Albright syndrome (MAS) (26%). Among the patients with MAS, 11.7% had fibrous dysplasia, 32.3% had café-au-lait spots, and 52.9% had both. Human chorionic gonadotrophin-secreting tumors included choriocarcinoma of the liver, hepatoblastoma, and germ cell tumors of the sellar-suprasellar region and mediastinum. Patients with adrenocortical tumors presented at an earlier age than those with other etiologies. Ovarian tumors included mature cystic teratoma, dysgerminoma, juvenile granulosa tumor, and steroid cell tumor. Despite overlapping features, it was possible to identify some unique clinical and laboratory features associated with each etiology. CONCLUSION This largest cohort of patients with non-CAH GIPP to date yielded an estimation of the frequency of non-CAH GIPP in the general pediatric population and showed that girls were affected at a rate 4-fold greater than that of boys owing to functional ovarian cysts and MAS, which were the two most common etiologies. The data collected also provided some unique characteristics associated with each etiology.

Characteristics and prevalence of non-classical congenital adrenal hyperplasia with a V281l mutation in patients with premature pubarche

Abstract We aimed to determine the prevalence and clinical characteristics of non-classical congenital adrenal hyperplasia (NCCAH) with V281L mutation in patients with premature pubarche. An adrenocorticotrophic hormone (ACTH) stimulation test was performed in 14 of the 159 patients with premature pubarche (PP). Patients whose stimulated 17α-hydroxyprogesterone (17-OHP) level on the ACTH test was ≥10 ng/mL underwent a mutational analysis of the CYP21 gene. NCCAH was defined in nine (5.7%) patients, all of whom had the V281L mutation. Four of the NCCAH patients were homozygote and four of them were heterozygote. One other patient was compound heterozygote for V281L mutation and the I2 splice mutation. One of the patients with V281L heterozygous mutation developed true precocious puberty and the other one had rapid progressive early puberty and developed polycystic ovary syndrome. ACTH stimulated 17-OHP ≥10 ng/mL in PP patients is load star to mutation analysis and heterozygote patients should be followed for clinical and biological hyperandrogenism up to completion of the whole ‘genome sequence’.

A novel mutation of 5α-steroid reductase 2 deficiency (CD 65 ALA-PRO) with severe virilization defect in a Turkish family and difficulty in gender assignment

Molecular genetic characterization of mutations in SRD5A2 gene is used as an essential procedure for the final diagnosis of 5α-reductase deficiency. Here, we report a novel homozygous point mutation of SRD5A2 gene at codon 65 in exon 1, due to a proline for alanine substitution in a Turkish family whose proband has severe undervirilization. This mutation has not been reported up to date in association with 5α-reductase deficiency in various ethnic groups. We discussed some questions about gender assignment in addition to the molecular and clinical characteristics of the disease.

Is Adrenocorticotropic Hormone Deficiency Really Rare in Patients with Idiopathic Growth Hormone Deficiency and Normal Thyroid Function Tests

Background/Aim: It was the aim of this study to evaluate subtle adrenocorticotropic hormone deficiencies in a group of patients with idiopathic growth hormone deficiency and without thyroid-stimulating hormone deficiency. Methods: Growth hormone and cortisol responses to an insulin tolerance test of 25 patients (15 males and 10 females) were evaluated at diagnosis (11.8 ± 2.5 years) and at the time of retesting (14.6 ± 1.6 years). A cortisol response <416, 416–555 and >555 nmol/l was defined as inadequate, blunted and normal, respectively. Results: Baseline cortisol responses to the insulin tolerance test were subnormal in 10 of the 25 patients (6 had blunted responses and 4 had inadequate responses). The mean ± SD of normal, blunted and inadequate cortisol response at diagnosis was 722.2 ± 127.8, 480.4 ± 37.4 and 317.7 ± 81.7 nmol/l, respectively. Five of these patients showed improved cortisol response at retesting. Three of the 15 patients who had a normal baseline cortisol response developed blunted cortisol response at re-evaluation. The mean ± SD of normal and blunted plus inadequate cortisol response at retesting was 668.1 ± 116.1 and 467.3 ± 64 nmol/l, respectively. All patients with a subnormal cortisol level were asymptomatic. Conclusion: Asymptomatic adrenocorticotropic hormone deficiency patients should be followed up closely, and treatment should be considered in a stress situation after re-evaluation of the hypothalamic-pituitary-adrenal axis.

The description of a new case with proopiomelanocortin (POMC) deficiency: an increasingly important diagnosis to make.

Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder with early-onset obesity. Investigation of this entity have increased our insight into the important role of the leptin-melanocortin pathway in energy balance. Here, we present a patient with POMC deficiency due to a homozygous c.206delC mutation in the POMC gene. We discuss the pathogenesis of this condition with emphasis on the crosstalk between hypothalamic and peripheral signals in the development of obesity and the POMC-melanocortin 4 receptors system as a target for therapeutic intervention.

Rett syndrome and precocious puberty association.

*Corresponding author: Meliksah Keskin, Dr. Sami Ulus Women Health, Children’s Training and Research Hospital, Clinics of Pediatric Endocrinology, Dr. Sami Ulus Çocuk Hastanesi, Babür caddesi/Altındağ, Ankara 06030, Turkey, E-mail: meliksah.keskin@hotmail.com Senay S. Erdeve and Zehra Aycan: Dr. Sami Ulus Women Health, Children’s Training and Research Hospital, Clinics of Pediatric Endocrinology, Ankara, Turkey Letter to the Editor

Renal complications of lipodystrophy: A closer look at the natural history of kidney disease

Lipodystrophy syndromes are a group of heterogeneous disorders characterized by adipose tissue loss. Proteinuria is a remarkable finding in previous reports.