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We report on two new patients with spondyloocular syndrome. Both patients harbor novel homozygous mutations in the XYLT2 gene. The patients present severe generalized osteoporosis, multiple fractures, short stature, cataract, and mild hearing impairment. XYLT2 mutations have been identified in spondyloocular syndrome, however only five mutations have been reported previously. These two patients with novel mutations extend the phenotypic and genotypic spectrum of spondyloocular syndrome. [ABSTRACT FROM AUTHOR]

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates ( P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were −3.1 ± 1.7, −1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups ( P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Objectives Factors contributing to arteriopathy in patients with Turner syndrome ( TS) remain unclear. We assessed arterial stiffness in young, normotensive patients with TS and correlated arterial stiffness with vascular biomarkers, GH treatment and oestrogen exposure. Sixty-one patients with TS (mean age, 12·6 years; range 6·6-21·3 years) were matched for age and sex with 61 healthy peers. Associations between arterial stiffness and high-sensitivity C-reactive protein (hs CRP), B-type natriuretic peptide ( BNP), atrial NP ( ANP), plasma aldosterone/plasma renin activity ( PRA), IGF1 and IGFBP3 were examined after adjusting for well-established confounders of vascular disease. Results Carotid intima media thickness standard deviation score ( SDS), arterial stiffness index SDS and incremental modulus of elasticity SDS were higher, and distensibility coefficient SDS was lower in patients with TS. The duration of GH treatment and oestrogen exposure was not associated with indices of arterial stiffness. TS patients had higher hs CRP, BNP and ANP. Plasma aldosterone/ PRA, IGF1 and IGFBP3 were similar in patients and controls. Multivariable regression analyses ( R2 = 0·200-0·668, P < 0·01) showed that BNP was associated with all indices of arterial stiffness. We found that hs CRP was associated with distensibility coefficient SDS (β = −0·16, P < 0·01). TS was independently associated with increased arterial stiffness (β = 0·420-3·424, P < 0·001 for all, R2 = 0·06-0·31). Conclusions Young, normotensive TS patients had increased arterial stiffness than that of healthy peers. BNP, and possibly hs CRP, was independently associated with arterial stiffness in TS. Further research will determine any causal inference of these relationships. [ABSTRACT FROM AUTHOR]

Background Although studied widely in adulthood, little is known about endocrinological disorders during critical illnesses in childhood. The aims of this study were to define the endocrinological changes in patients admitted to pediatric intensive care unit ( PICU) and to identify their effects on prognosis. Methods Forty patients with a mean age of 5.1 years admitted to PICU were enrolled in the study. Blood samples were taken at admission and at 24 and 48 h to measure cortisol, adrenocorticotropic hormone ( ACTH), prolactin, growth hormone ( GH), GH binding protein ( GHBP), insulin-like growth factor-binding protein-3 ( IGFBP-3) and interleukin-6 ( IL-6). The severity of the patient's condition was assessed using pediatric risk of mortality ( PRISM) and pediatric logistic organ dysfunction ( PELOD) scores. Results PRISM and PELOD scores were significantly higher in non-survivors. Cortisol, ACTH, prolactin, GH, GHBP, IGFBP-3 and IL-6 were not significantly different between the survivors and non-survivors. There was a negative correlation between baseline IGFBP-3 and PRISM scores. A positive correlation was seen between cortisol level at 24 h and PRISM score. On multivariate linear regression analysis, PRISM score was best explained by ACTH and cortisol at 24 h. A positive weak correlation was detected between IL-6 at 24 h and PELOD scores. Conclusions Although there was no difference between survivors and non-survivors regarding the studied endocrine parameters, there were associations between cortisol, ACTH, IL-6 and IGFBP-3 and risk assessment scores, and, given that these scores correlated with mortality, these parameters might be useful as prognostic factors. [ABSTRACT FROM AUTHOR]

Background Precocious adrenarche ( PA) refers to the clinical onset of excess androgen in girls before the age of 8. It is associated with an increased risk of functional ovarian hyperandrogenism after puberty. PA may be associated with polycystic ovary syndrome ( PCOS). We compared pelvic ultrasound (US) findings of girls with PA born appropriate for gestational age ( AGA) to healthy body mass index ( BMI)-matched peers to determine whether US findings in AGA-born PA girls are associated with PCOS antecedents. Subjects and methods We conducted a cross-sectional study on 56 AGA-born girls with PA (6·9 ± 0·6 years) and 33 BMI-matched prepubertal AGA-born peers (7·1 ± 1·0 years). Hormonal data, homeostasis model assessment of insulin resistance ( HOMA- IR), insulin sensitivity index ( ISIcomp) and pelvic US findings were compared. Associations of pelvic US findings with clinical and metabolic data were investigated. Results Precocious adrenarche girls had greater height and bone age-adjusted uterine length ( UL; P = 0·01) and UL standard deviation score ( SDS) ( P = 0·02) than BMI-matched peers. Mean ovarian volume ( MOV), MOV SDS, uterine volume, uterine cross-sectional area and ovarian morphology were similar between the groups ( P > 0·05). MOV and MOV SDS correlated with ISIcomp ( r = −0·683, P < 0·001; r = −0·760, P < 0·001; respectively). Correlations of pelvic US findings with other biochemical data did not reach significance ( P > 0·05). Multivariate regression analysis revealed that in girls with PA, ISIcomp had the most significant effect on MOV SDS ( R2 = 0·731, β = −4·784, P = 0·001). Conclusions Appropriate for gestational age-born PA girls have greater UL measurements than AGA-born BMI-matched peers. In AGA-born girls with PA, decreasing insulin sensitivity is strongly and independently associated with an increase in MOV. Longitudinal follow-up of our cohort after menarche will allow us to establish how many AGA-born girls with PA will ultimately develop PCOS. [ABSTRACT FROM AUTHOR]

Netherton syndrome ( NS) is a rare autosomal recessive disorder characterized by ichthyosiform scaling, hair abnormalities, and variable atopic features. Mutations in the serine protease inhibitor Kazal type 5 ( SPINK5) gene leading to lymphoepithelial Kazal-type-related inhibitor ( LEKTI) deficiency cause NS. Growth retardation is a classic feature of NS, but growth hormone ( GH) deficiency with subsequent response to GH therapy is not documented in the literature. It is proposed that a lack of inhibition of proteases due to a deficiency of LEKTI in the pituitary gland leads to the overprocessing of human GH in NS. Herein we report three patients with NS who had growth retardation associated with GH deficiency and responded well to GH therapy. [ABSTRACT FROM AUTHOR]

Background: Congenital hypothyroidism (CH) is classified as transient or permanent. Transient CH can be treated with short-term thyroxine replacement therapy or followed up without therapy, whereas lifelong thyroxine replacement is needed in permanent CH. Determination of the underlying etiology is essential for determination of follow-up strategy. The purpose of the present study was therefore to assess the role of color Doppler ultrasonography (CDU) in etiologic diagnosis of CH together with radionuclide method and grayscale ultrasonography (GSU). Methods: A total of 182 patients (83 female, 99 male) were evaluated. To determine etiologic diagnosis, the patients underwent a free T4 (fT4), thyroid-stimulating hormone (TSH) and urinary iodine level measurement, and thyroid scintigraphy, perchlorate discharge test, CDU, and GSU. Results: Fifty-four patients had transient and 97 had permanent CH. Isolated hyperthyrotropinemia was diagnosed in 31 patients. Transient CH was due to iodine deficiency in 22 and excess iodine in 13 patients. In 97 patients with permanent CH, ectopia was present in 32 patients and agenesis of the thyroid gland was found in 22 patients, while 43 were diagnosed with dyshormonogenesis. In the ectopia group, GSU failed to detect ectopic tissues in all cases, whereas CDU was successful in determining the presence of ectopic thyroid in 20 cases. The sensitivity of CDU was 80% in determining ectopic tissue. Conclusion: To determine etiologic diagnosis, radionuclide methods and sonographic modalities should be assessed together. The gold standard in the diagnosis of ectopic thyroid tissue is thyroid scintigraphy. CDU may be a major supportive diagnostic tool in the evaluation of ectopic thyroid gland. [ABSTRACT FROM AUTHOR]