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The biological role of the lipopolysaccharide-responsive beige-like anchor (LRBA) protein associated with the immune system is not to date well known. However, it is thought to regulate the CTLA4 protein, an inhibitory immunoreceptor. Chronic diarrhea, autoimmune disorders, organomegaly, frequent recurrent infections, hypogammaglobulinemia, chronic lung manifestations, and growth retardation are some features of LRBA deficiency. This rare disease is observed as a result of homozygous mutations in the LRBA gene. An 11.3-year-old male patient presented because of short stature and high blood glucose level. He had a previous history of lymphoproliferative disease, chronic diarrhea, and recurrent infections. His parents were first-degree consanguineous relatives. A diagnosis of type 1 diabetes mellitus (T1DM) was added to the preexisting diagnoses of immunodeficiency, recurrent infection, enteropathy, chronic diarrhea, lymphadenopathy, hepatomegaly, and short stature. Genetic analysis revealed a homozygous mutation in the LRBA gene, c.5047C>T (p.R1683*) (p.Arg1683*). Abatacept treatment was started: the patient's hospital admission frequency decreased, and glucose regulation improved. At follow-up, growth hormone (GH) deficiency was diagnosed, although it was not treated because the underlying disease was not under control. Nevertheless, the patient's height improved with abatacept treatment. LRBA deficiency should be considered in the presence of consanguineous marriage, diabetes, immunodeficiency, and additional autoimmune symptoms. LRBA phenotypes are variable even when the same variants in the LRBA gene are present. Genetic diagnosis is important to determine optimal treatment options. In addition to chronic malnutrition and immunosuppressive therapy, GH deficiency may be one of the causes of short stature in these patients.

The aim of this study was to analyze the relationship between premature adrenarche (PA) and metabolic syndrome (MeS) parameters at presentation and during puberty. This study comprised 47 girls with PA. Age- and puberty-matched 22 healthy girls without PA were the control group. Patients were evaluated at admission (first evaluation) and later in puberty (second evaluation). Anthropometric measurements, lipid levels, and hormonal parameters were studied and oral glucose tolerance test was performed. Indices for insulin resistance (IR) were calculated. The study group was divided in subgroups according to body mass index (BMI) and compared with the control group. The age of the PA group at first evaluation was 8.0 ± 1.1 years; mean height SDS and BMI SDS were 0.4 ± 1.2 and 0.6 ± 0.9, respectively. Age of PA group at the second evaluation was 12.9 ± 2.4 years. Frequency of obesity and overweight was 14.9 and 23.4%. Dyslipidemia ratio was 28.3%. PA group had significantly higher BMI than controls. Mean insulin concentration was higher and mean glucose and FGIR were lower in PA group and also dyslipidemia ratio was 5.3 times higher in PA than controls (p = 0.040). In PA group, overweight/obese subjects had still higher BMI at second evaluation and also higher fasting glucose, insulin, HOMA-IR. However, PA children with exaggerated DHEAS concentrations compared to those without had similar BMI SDS, insulin sensitivity, and secretion indices and lipid profile at second evaluation. BMI SDS at first evaluation was positively correlated with HOMA-IR at puberty; however, there is no correlation between DHEAS at first evaluation and HOMA-IR at puberty.Conclusion: BMI at adrenarche is more important than prepubertal adrogen concentrations such as DHEAS, while predicting the IR in puberty. Long-term follow-up of children supports the observation that PA per se may be related to IR; however, the risk increases with obesity. What is Known: • Premature adrenarche (PA) is receiving more attention as evidence emerges for a relation between early androgen excess and metabolic syndrome. • The onset of the adrenal androgen production before 8 years in girls defined as PA. Pubarche, axillary hair, apocrine body odor, acne are typical phenotypic features of PA. What is New: • Body mass index at adrenarche is an important risk factor for development of insulin resistance in pubertal ages. • Degree of dehydroepiandrosterone sulfate elevation was not shown as a risk factor for insulin resistance.

Factors associated with aortic dilation and dissection in patients with Turner syndrome (TS) remain unclear. We assessed magnetic resonance imaging-based aortic diameters at nine predefined anatomic positions and examined associations of increased aortic diameters with B-type natriuretic peptide (BNP), A-type NP (ANP), growth hormone treatment, insulin-like growth factor 1 (IGF1), and estrogen status. Forty-seven patients with TS aged 7.3–21 years and 34 healthy peers were enrolled in this study. Aortic diameters were higher in patients with TS at three positions than in controls (p

Children born large for gestational age (LGA) may be at risk for development of obesity and insulin resistance (IR). The reciprocal relationship of adipokines and proinflammatory cytokines is suggested to play a putative role in fine tuning of insulin secretory dynamics. To evaluate serum interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α), leptin, insulin-like growth factor-1 (IGF-1), and IGF-binding protein-1 (IGFBP-1) concentrations in idiopathic LGA-born children to appropriate for gestational age (AGA) and idiopathic LGA-born children at prepubertal ages and investigate their associations with IR, evaluated by homeostasis model assessment-IR (HOMA-IR), we conducted a cross-sectional study to compare 40 (19 females) idiopathic LGA-born prepubertal children [mean ± SD age 6.1 ± 2.5 years] and 49 (25 females) (5.4 ± 1.8 years) AGA-born BMI-matched peers with respect to anthropometric and laboratory data. Both groups were further divided into subgroups as being obese/overweight (OW) and non-OW, and the analyses were repeated. LGA-born children were taller and heavier than AGA-born children (p

The aim of this study was to investigate the relationship between birth weight and blood pressure (BP) by means of ambulatory BP monitoring (ABPM) and renal functions in non-obese children who were born small-for-gestational age (SGA) at term. The study group consisted of 39 (19 female, 20 male; mean age 8.8 ± 2.6 years) children born SGA. Their data were compared to those of 27 (13 female, 14 male; mean age 8.2 ± 2.9 years) children born appropriate-for-gestational age (AGA). No difference between SGA and AGA children was observed based on office BP measurements and daytime, nighttime and 24-h ABPM. Seventeen SGA (48.6%) and nine AGA (37.5%) children had a 24-h systolic BP (SBP) load over 25%, and seven of these (5 SGA, 2 AGA) were hypertensive according to mean SBP values. The prevalence of the non-dipping phenomenon in SGA and AGA children was similar. Renal functions were normal and similar in both groups. Three children (2 SGA, 1 AGA) with normal glomerular filtration rate had higher microalbumin excretion and one SGA child had systolic hypertension according to the office BP. Our findings demonstrate that the influence of intrauterine growth restriction on BP is not manifested during the childhood period, and they do not support the existence of a negative relationship between birth weight and BP in children.