Volume CXIV, Number 4, November 7, 1996

Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespa

The Effects of Electromagnetic Field on the Endocrine System in Children and Adolescents

WOS: 000368465300006PubMed ID: 26841641Children are exposed to various kind of non-ionizan radiation in their daily life involuntarily. The potential sensitivity of developing organism to the effects of radiofrequency (RF) signals, the higher estimated specific absorption rate (SAR) values of children and greater lifetime cumulative risk raised the scientific interest for children's vulnerability to electromagnetic fields (EMFs). In modern societies, children are being exposed to EMFs in very early ages. There are many researches in scientific literature investigating the alterations of biological parameters in living organisms after EMFs. Although the international guidelines did not report definite, convincing data about the causality, there are unignorable amount of studies indicating the increased risk of cancer, hematologic effects and cognitive impairment. Although they are less in amount; growing number of studies reveal the impacts on metabolism and endocrine function. Reproductive system and growth look like the most challenging fields. However there are also some concerns on detrimental effects of EMFs on thyroid functions, adrenal hormones, glucose homeostasis and melatonin levels. It is not easy to conduct a study investigating the effects of EMFs on a fetus or child due to ethical issues. Hence, the studies are usually performed on virtual models or animals. Although the results are conflicting and cannot be totally matched with humans; there is growing evidence to distress us about the threats of EMF On children

The Effects of Six-Month L-Thyroxine Treatment on Cognitive Functions and Event-Related Brain Potentials in Children with Subclinical Hypothyroidism

Objective: The aim of this study was to investigate the cognitive status of children with subclinical hypothyroidism (SH) before and after L-thyroxine (L-T4) treatment using event-related potentials (ERPs) and neuropsychological tests. Methods: This prospective study was conducted on a series of 20 children with mild SH (free T4 normal and thyroid-stimulating hormone level within 5-10 mu IU/L) who underwent clinical and cognitive assessment before L-T4 treatment and 6 months afterwards. The recordings of ERPs were done at the time of diagnosis and after 6 months of euthyroid state. Neuropsychiatric tests for attention, perception, close and remote memory were performed on all patients and on the control group which consisted of 20 healthy children of normal intelligence. Results: While pretreatment verbal memory (VM) and verbal recall (VR) scores of the SH group were significantly lower than those of the control group (p=0.004 and 0.012, respectively), no significant differences between the post-treatment and control groups were found in these scores after 6 months of L-T4 treatment. Post-treatment VM and VR scores were significantly higher than the pretreatment scores in the SH group (p=0.008 and p=0.0001). There were no significant differences between the pre- and post-treatment values of electrophysiological evaluation in N1, P2, P3 latencies or P3 amplitude (p>0.05), although there was a significant decrease in N2 latency in the post-treatment group (p=0.03). Conclusion: SH affects cognition in children and L-T4 replacement therapy leads to normalization of cognitive functions. Neuropsychological tests can be used as complementary measures in the evaluation of children with SH. Determining the association between ERPs and SH would contribute to the comprehensive evaluation of these children

Can ocular changes be detected early in children and adolescents with type 1 diabetes mellitus without retinopathy by using optical biometry and optical coherence tomography?

Purpose To determine early ocular changes in children and adolescents with type 1 diabetes mellitus without retinopathy (T1DM-woR) by optical biometry (OB) and optical coherence tomography (OCT). Methods Seventy children and adolescents with T1DM-woR (patient group) and 72 healthy children and adolescents (control group) were included. Demographic data, anthropometric measurements and anterior-posterior segment parameters of groups were compared. Correlations between ocular parameters and glycosylated hemoglobin (HbA1c) level, age at diabetes mellitus (DM) onset and DM duration were evaluated. Results Patients with T1DM-woR had significantly shallower anterior chambers (3.50 +/- 0.12 vs 3.67 +/- 0.11 mm, p 0.05). In patient group, as HbA1c level increased, central RNFL and choroidal thicknesses decreased (r = - 0.639, p < 0.001; r = - 0.486, p = 0.010, respectively). Conclusions In patients with T1DM, we found that LT increased, and ACD, central RNFL and choroidal thicknesses decreased by OB and OCT before visible findings appeared in routine ophthalmological examination. Determination of early changes is warning to physician and patient in order to prevent more serious damages occurring later

A Novel Mutation in Human Androgen Receptor Gene Causing Partial Androgen Insensitivity Syndrome in a Patient Presenting with Gynecomastia at Puberty

WOS: 000378169400018PubMed ID: 27087292Partial androgen insensitivity syndrome (PAIS) typically presents with micropenis, perineoscrotal hypospadias, and a bifid scrotum with descending or undescending testes and gynecomastia at puberty. It is an X-linked recessive disorder resulting from mutations in the androgen receptor (AR) gene. However, AR gene mutations are found in less than a third of PAIS cases. A 16-year-old boy was admitted with complaints of gynecomastia and sparse facial hair. Family history revealed male relatives from maternal side with similar clinical phenotype. His external genitalia were phenotypically male with pubic hair Tanner stage IV, penoscrotal hypospadias, and a bifid scrotum with bilateral atrophic testes. He had elevated gonadotropins with a normal testosterone level. Chromosome analysis revealed a 46,XY karyotype. Due to the family history suggesting a disorder of X-linked trait, PAIS was considered and molecular analysis of AR gene was performed. DNA sequence analysis revealed a novel hemizygous mutation p.T576I (c. 1727C>T) in the AR gene. The diagnosis of PAIS is based upon clinical phenotype and laboratory findings and can be confirmed by detection of a defect in the AR gene. An accurate approach including a detailed family history suggesting an X-linked trait is an important clue for a quick diagnosis

Asfotase Alfa Treatment in a 2-year-old Girl with Childhood Hypophosphatasia

Childhood hypophosphatasia (HPP) presents with bowing of the limbs, poor mobility, chronic pain, short stature, fractures, and motor impairment. Enzyme replacement therapy (ERT) provides improved pulmonary and physical function in life-threatening perinatal and infantile forms of HPP. However, treatment of those patients without life-threatening HPP is limited. This report describes the results of asfotase alfa (Strensiq (R), Alexion Pharmaceuticals, Inc.) treatment in a 6-year-old girl with childhood HPP, who presented with premature loss of primary teeth, low mobility, and chronic pain in the legs. Sequence analysis of the TNSALP gene revealed three heterozygous variants; c.526G>A (reported previously), c.1051G>C (novel), c.787T>C (reported previously). After a four-year follow-up under ERT, a marked reduction in leg pain and restlessness was observed and physical therapy assessments showed remarkable improvements in motor function, pain score, and quality of life. The treatment decision in childhood HPP is not as clear as in infantile and perinatal forms and it is mostly based on the clinical and radiological condition of the patient. In patients with childhood HPP without severe skeletal involvement but accompanying motor retardation, ERT may improve quality of life, motor functions, and daily activities

A non-endocrine cause of testicular enlargement mimicking precocious puberty: Testicular microlithiasis

Untimely bilateral testicular enlargement greater than 3 ml is suggestive of precocious puberty, in which an underlying organic disease is more common in boys than in girls. We describe a 71/2 year-old boy presenting with testicular enlargement due to testicular microlithiasis. Following hormonal tests, diagnosis was based on ultrasonographic findings. Three years follow-up of the patient revealed normal pubertal progress and,,no., malignant evolution. Testicular microlithiasis.-is a rare cause. of testicular enlargement and pediatricians should take this disease into account in the differential diagnosis of suspected precocious puberty

A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty

Deficiency of 17 beta-hydroxysteroid dehydrogenase type3 (17 beta-HSD3) isoenzyme which catalyzes the synthesis of testosterone from Delta 4-androstenedione, is the cause of 46, XY disorders of sex development (DSD). 17 beta-HSD3 deficiency is a rare autosomal recessive disorder, which is caused by mutations in the HSD17B gene found on chromosome 9q22. Up to now, almost 33 mutations in the HSD17B3 gene have been reported. Here, we report a patient with a novel mutation in HSD17B3 gene leading to 17 beta-HSD3 deficiency. The patient was admitted because of primary amenorrhea and signs of virilization at puberty. The chromosome analysis showed a 46, XY karyotype. Hormonal evaluation revealed a high Delta 4-androstenedione level with a low serum testosterone/androstenedione (T/A) ratio. Sequence analysis of HSD17B3 gene revealed the presence of a homozygous missense mutation in exon 11 resulting in a premature stop codon (p.Y287). Gonadectomy was performed after the molecular diagnosis and estrogen replacement therapy was initiated. With this report, we emphasize that 17 beta-HSD3 deficiency should be considered in virilized female patients at puberty if the T/A ratio is less than 0.8, and the molecular analysis should be performed for the precise diagnosis and genetic counseling. (C) 2014 Elsevier B.V. All rights reserved

Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia

WOS: 000353793000034PubMed ID: 25503463During the first weeks of life, salt-wasting crisis, hyperkalemia, acidosis, hypoglycemia, and shock are the main findings of congenital adrenal hyperplasia (CAH). Pseudohypoaldosteronism type 1 (PHA1) is a rare disease of mineralocorticoid resistance, which is characterized with high aldosterone levels, hyponatremia and hyperkalemia without clinical findings of glucocorticoid deficiency. Patients with PHA1 are often initially diagnosed with CAH; however, it is unusual that a CAH patient is misdiagnosed as PHA1. In this report, we describe two cases with severe salt-losing crisis, hyperkalemia, and mild acidosis, which were initially diagnosed with PHA1, due to the high aldosterone levels along with normal adrenocorticotropic hormone and cortisol levels. However, subsequent investigation and genetic analysis led to the diagnosis of CAH with a homozygous I2 splice mutation in both alleles of the CYP21 gene. With this report, we emphasize that high blood levels of adrenal steroid precursors may cross-react with aldosterone and lead to confusing laboratory results that prevent making the accurate differential diagnosis between CAH and PHA1