Different Potent Glucocorticoids, Different Routes of Exposure but The Same Result: Iatrogenic Cushing's syndrome and Adrenal Insufficiency.
Conclusion: In this series, 85 % of the patients had life-threatening AI and two patients had hypercalcemia. These results pointed out that potent GCs cause serious side effects especially in infants, and the recovery of the HPA axis in children might take as long as 780 days. The parents should be informed regarding the possibility of containing synthetic glucocorticoids in cosmetic products and their side effects. PMID: 32431136 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 22, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Endocrine Disruptors and Polycystic Ovary Syndrome: Phthalates.
Conclusion: Serum DEHP and MEHP concentrations were not different between adolescents with or without PCOS. However, these phthalates are associated with metabolic disturbances such as dyslipidemia and insulin resistance, independently of obesity, in girls with PCOS. PMID: 32431137 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 22, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies.
Conclusion: This case highlights the importance of pursuing a diagnosis when clinical suspicion remains, and the significance of VLCFA analysis for patients with adrenal insufficiency without adrenal antibodies in prompting an ALD diagnosis. Subsequent brain imaging surveillance can detect early, pre-symptomatic cerebral disease allowing for timely treatment and successful arrest of cerebral disease progression. PMID: 32394691 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

6q25.1-q25.3 microdeletion in a Chinese girl.
Authors: Zhong ML, Song YM, Zou CC Abstract Deletions of the long arm of chromosome 6 are rare and are characterized by great clinical variability according to the deletion breakpoint. Herein, we reported a 3-year-old girl evaluated for facial dysmorphism (long and connected eyebrows, big mouth, wide nasal bridge, high palatine arch, low set ears, and thin hair), growth retardation, intellectual disability, and language delay. Chromosomal microarray analysis revealed an 8.1-Mb deletion within 6q25.1-q25.3 ([hg19] chr6: 152,307,705-160,422,834) comprising 31 genes. Dysmorphic features, microcephaly, intellectual dis...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 10, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Unusual Case of Fibroma of Tendon Sheath in a Young Girl with Turner Syndrome Undergoing Growth Hormone Treatment.
Conclusion: This report illustrates the clinical impact of Turner syndrome and GH treatments on the occurrence of this tumor through literature reviews. Further studies are needed to highlight the association between FTS and GH treatment, especially in Turner syndrome. Though it is not yet confirmed, it may be worth considering FTS as a possible diagnosis in patients undergoing GH treatment. PMID: 32349463 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 2, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The clinical spectrum of resistance to thyroid hormone Αlpha in children and adults.
THE CLINICAL SPECTRUM OF RESISTANCE TO THYROID HORMONE ΑLPHA IN CHILDREN AND ADULTS. J Clin Res Pediatr Endocrinol. 2020 Apr 29;: Authors: Erbaş İM, Demir K Abstract Resistance to thyroid hormone alpha (RTHα) occurs due to pathogenic heterozygous variants in THRA. The entity was described in 2012 and, until now, a small number of patients with varying severity have been reported. With this review, we summarize and interpret the heterogeneous clinical and laboratory features of all published cases, including ours. Many symptoms and findings are similar to those seen in primary hypothyroidi...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 2, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Girls with premature thelarche younger than 3 years of age might have stimulated LH greater than 10 IU/L.
CONCLUSION: Although consensus statements usually define baseline LH>0.3-0.5 IU/L, peak LH>5 IU/L, and LH/FSH ratios>0.66-1.0 as diagnostic cut-offs for CPP, in children below 3 years of age, the baseline and peak LH values may be detected pubertal, possibly due to mini-puberty. The dominant FSH response in the GnRH stimulation test is more valuable than the peak LH response in the diagnosis of PT. PMID: 32349465 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - May 2, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Treatment difficulties in hypomagnesemia secondary to the transient receptor potential melastatin 6 gene: a case report with novel mutation.
Conclusion: Hypomagnesemia is one of the causes of hypocalcemia. Enteral replacement is the key in the treatment but the treatment should be individualized for each patient. Normalization of hypomagnesemia is not always easy and should not be the aim of the treatment. PMID: 32302086 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Detection of SHOX Gene Variations in Patients Who Had Skeletal Abnormalities With/Without Short Stature.
Conclusion: In this study, we presented the clinical spectrum and molecular findings of 15 patients with SHOX gene mutations or deletions. SHOX deficiency should be especially considered in patients who have disproportionate short stature or forearm anomalies with/without short stature. Although most of the patients had a partial or whole gene deletions, SHOX gene sequencing should be performed in suspected cases. Furthermore, conductive hearing loss may rarely accompany these clinical manifestations. PMID: 32295321 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 17, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Diagnostic Performance of Neck Circumference and Cut-off Values for Identifying Overweight and Obese Pakistani Children: A Receiver Operating Characteristic Analysis.
Authors: Asif M, Aslam M, Wyszyńska J, Altaf S, Ahmad S Abstract Objective: Neck circumference (NC) is considered to be an alternative screening method for obesity. The aims of this investigation were (1) to examine the correlation between BMI and NC and (2) to determine diagnostic performance, the best cut-off points of NC for identification of overweight and obese Pakistani children. Methods: We studied a sample of 7921 children aged 5-14 years by a cross-sectional survey carried-out in four major cities of Pakistan. Receiver operating characteristic (ROC) analysis was used to see the diagnostics performance...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 17, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Case Report of Pycnodysostosis Associated with Multiple Pituitary Hormone Deficiencies and Response to Treatment
Authors: Verma V, Singh RK Abstract Pycnodysostosis is a rare autosomal recessive osteosclerotic bone disorder associated with short stature and multiple bony abnormalities. Growth hormone (GH) deficiency may contribute to short stature in about 50 % of patients. Available literature has rarely reported other pituitary hormone deficiencies in pyknodysostosis. Though the management remains conservative, recombinant human growth hormone (rhGH) is tried in selected patients. Here we present a case of pycnodysostosis which was evaluated for associated co-morbidities and found to have multiple pituitary hormone deficien...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 7, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Gender Identity and Assignment Recommendations in Disorders of Sex Development (DSD) Patients: 20 years ’ Experience and Challenges
Conclusion: We present 20 years of experience in DSD gender assignment recommendations, and find that the etiologic diagnosis, psychiatric gender orientation, expectation of the family, phallus length and Prader stage were effective in the gender assignment in DSD cases (especially the first two substances). It is important to share these experiences among the medical professionals who are routinely charged with this difficult task in multidisciplinary councils. PMID: 32212580 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 28, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Erratum
Authors: PMID: 32191422 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 21, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Proposal to Develop New References for Serum IGF-I Levels in Children
Authors: Ranke MB PMID: 32157850 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Results of 16 Years Iodization: Assessment of Iodine Deficiency Among School-age Children in Antalya, Turkey
Authors: Ma ZF PMID: 32157851 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
Authors: Acar S PMID: 32157853 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Evaluation of the Final Adult Height and Its Determinants in Patients with Growth Hormone Deficiency: A Single-centre Experience from the South-eastern Region of Turkey
Conclusion: GH treatment provided the majority of our patients to achieve a final height compatible with their genetic potential as well as population standards. First Year Delta Height-SDS was found a predictive factor for FAH. Commencement of GH therapy at the prepubertal period was not found associated with a better height outcome. PMID: 32157854 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study with 241,083 Infants
Conclusion: Turkish neonatal CAH screening effectively leads to the early diagnosis of 21-OHD and 11β-OHD by the use of steroid profiling as a second-tier test allowing for better care of these patients in the future. PMID: 32157855 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The effectiveness of Sirolimus treatment in two rare disorders with nonketotic hypoinsulinemic hypoglycemia: The role of mTOR pathway
Authors: Şıklar Z, Çetin T, Çakar N, Berberoğlu M Abstract “Nonketotic-hypoinsulinemic hypoglycemia (NkHH)” is a very rare problem of glucose consumption increase without hyperinsulinism. This disorder has mainly been reported in cases with AKT2 mutation and rarely in cases with PTEN mutation. In cases with PTEN or AKT2 mutation, no effective therapy has been implemented in addition to frequent feeding to counter hypoglycemia. mTOR inhibitor Sirolimus has been used in hyperinsulinemic hypoglycemia that was unresponsive to other medical treatment. In insulin signaling pathway, both AKT2 ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Primary Hyperparathyroidism Presenting as Posterior Reversible Encephalopathy Syndrome: A Report of Two Cases
We report two cases of adolescent PHPT presenting with generalized tonic-clonic seizures and altered sensorium. On evaluation, both had hypertension, severe hypercalcemia (serum calcium 14.1 mg/dl and 14.5 mg/dl, respectively) and elevated parathyroid hormone levels. Magnetic resonance imaging revealed T2/FLAIR hyperintensities located predominantly in the parieto-occipital regions, suggestive of PRES. Localization and excision of parathyroid adenoma led to restoration of normocalcemia. Neurological symptoms and MRI changes improved subsequently. Extensive literature search revealed only four cases of PHPT-associated PRES;...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 6, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Approach to Abnormal Uterine Bleeding in Adolescents
This article reviews the current understanding and management of abnormal uterine bleeding (AUB) in adolescents. It is hoped that this review will provide readers with an approach to the evaluation and treatment of mild to severe uterine bleeding. AUB is a common problem which has significantly adverse effects on an affected adolescent’s quality of life. The most common underlying condition in AUB in adolescence is anovulation. During the evaluation, pregnancy, trauma and sexually transmitted diseases must be ruled out, regardless of history. It should be kept in mind that AUB during this period may be the first sign...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Dysmenorrhea, Endometriosis and Chronic Pelvic Pain in Adolescents
Authors: Sachedina A, Todd N Abstract Most adolescents will experience discomfort during menstruation. Due to normalization of dysmenorrhea, there is delay to diagnosis and treatment. Non-steroidal anti-inflammatories are a first line treatment. Adolescents can safely be offered menstrual suppression with combined hormonal contraception, and progestin-only options. When the above are ineffective, gonadotropin releasing hormone agonists with add back treatment can be considered. Transabdominal ultrasound is indicated when first line treatments do not improve symptoms. Endometriosis should be considered in adolescent...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Where Have the Periods Gone? The Evaluation and Management of Functional Hypothalamic Amenorrhea
Authors: Sophie Gibson ME, Fleming N, Zuijdwijk C, Dumont T Abstract Functional hypothalamic amenorrhea (FHA) is a common cause of amenorrhea in adolescent girls. It is often seen in the setting of stress, weight loss, or excessive exercise. FHA is a diagnosis of exclusion. Patients with primary or secondary amenorrhea should be evaluated for other causes of amenorrhea before a diagnosis of FHA can be made. The evaluation typically consists of a thorough history and physical examination as well as endocrinological and radiological investigations. FHA, if prolonged, can have significant impacts on metabolic, bone, c...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Contraception for Adolescents
Authors: Todd N, Black A Abstract Although pregnancy and abortion rates have declined in adolescents, unintended pregnancies remain unacceptably high in this age group. The use of highly effective methods of contraception is one of the pillars of unintended pregnancy prevention and requires a shared decision making process within a rights based framework. Adolescents are eligible to use any method of contraception and long-acting reversible contraceptives, which are “forgettable” and highly effective, may be particularly suited for many adolescents. Contraceptive methods may have additional non-contrace...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Management of Menstrual and Gynecologic Concerns in Girls with Special Needs
Authors: Dural Ö, Taş İS, Akhan SE Abstract For girls with physical and developmental disabilities and their families/caregivers, puberty and menstruation can present significant problems such as vulnerability, abuse risk, unintended pregnancies, difficulties with managing menstrual hygiene, abnormal uterine bleeding, dysmenorrhea, behavioral difficulties/mood concerns or changes in seizure pattern. Healthcare providers may have an important and positive impact for both the adolescents and their families/caregivers during this stage of life. Whether menstrual manipulation is indicated should be decided after...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Hormone Replacement Therapy in a Patient with Hypogonadism and Coexisting Medical Conditions
We present a case of a 15-year-old adolescent girl with hypogonadism and coexisting medical conditions, who was evaluated for systemic hormone therapy. PMID: 32041392 [PubMed - in process] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Conservative Management of Vaginal Hypoplasia
Authors: Dural Ö, Poyrazoğlu Ş Abstract In patients with Mayer-Rokitansky-Küster-Hauser syndrome and complete androgen insensitivity syndrome (CAIS), management of vaginal hypoplasia includes non-surgical or surgical vaginal elongation techniques. For these patients, primary vaginal dilation is considered a first-line option to avoid the risks of having surgery and complications that may occur due to these procedures. Non-surgical dilation is a highly successful treatment if treatment is initiated when the patient is emotionally mature and ready. Here, we present a case of CAIS with vaginal hypoplasia m...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 13, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Homozygous mutation in the insulin receptor gene and mild form of insulin resistance syndrome; a case report
We reported a novel homozygous mutation p.Leu260Arg on exon 3 on INSR gene in a patient with type A insulin resistance syndrome. In this article, we report an adolescent with type A insulin resistance syndrome due to a novel homozygous mutation on the INSR gene and detailed her medical follow-up. Different mutations in the INSR gene causes different phenotype and different inheritance pattern also, our report is important to making disease mechanisim understand and also helping genetic counseling process. PMID: 32018348 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - February 6, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Heterozygous Insulin Receptor (INSR) Mutation associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series
We report, for the first time, an association of INSR mutation with neonatal HH responsive to diazoxide therapy that resolved subsequently. Our case series emphasizes the need for genetic analysis and long-term follow up of these patients. PMID: 31989990 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 30, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Validity of 6th month L-Thyroxine Dose for Differentiation of Transient-Permanent Congenital Hypothyroidism
Conclusion: Results of the present study suggest that L-thyroxine doses required at the 6th month of therapy would be a good marker for predicting transient CH patients with eutopic thyroid gland. Hence, would help to make decision for earlier discontinuation of the treatment. PMID: 31990163 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 30, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Increased incidence of type 1 diabetes in children and no change in the age of diagnosis and BMI-SDS at the onset - is the accelerator hypothesis not working?
Authors: Wasyl-Nawrot B, Wójcik M, Nazim J, Skupień J, Starzyk JB Abstract Background: One of the speculated reasons for the observed increase of type 1 diabetes incidence in children is weight gain causing accelerated disease development in predisposed individuals. This so-called accelerator hypothesis is, however, controversial. The aim of the study was to analyze whether in the ethnically homogeneous population of Lesser Poland an increase in the number of cases of diabetes among children was associated with younger age and higher BMI-SDS at the moment of diagnosis. Subjects and Methods: Retrospectiv...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 30, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Children with Hashimoto ’s Thyroiditis Have Increased Intestinal Permeability: Results of a Pilot Study
Children with Hashimoto’s Thyroiditis Have Increased Intestinal Permeability: Results of a Pilot Study J Clin Res Pediatr Endocrinol. 2020 Jan 28;: Authors: Küçükemre-Aydın B, Yıldız M, Akgün A, Topal N, Adal E, Önal H Abstract Increased intestinal permeability (IIP) precedes several autoimmune disorders. Although Hashimoto’s thyroiditis (HT) is the most common autoimmune disorder, the role of IIP in its pathogenesis had received little attention. Zonulin plays a critical role in IIP by modulating intracellular tight junctions. Rise of serum zonulin levels were...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 30, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Mutations within The Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
Conclusion: Phenotype of patients regarding hormonal deficiencies, pituitary morphology, presence of extra-pituitary findings, family history of CPHD and parental consanguinity are important to decide which pituitary transcription factor deficiency should be investigated. The frequency of the PROP1 mutations was 16% in our cohort. Mutation rate was higher in familial cases compared to sporadic cases (42,8% vs. 11,6%). PROP1 mutation frequencies vary in different populations and its prevalence is high in Turkish CPHD patients. PMID: 31948187 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 19, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The results of 16 years iodization: Assessment of iodine deficiency among school-age children in Antalya, Turkey
Conclusion: The comparison of two cross-sectional studies, carried out 16-years interval, shows that Antalya is no longer an iodine deficient region. That said, surveillance studies should be continued and the percentage of iodine deficient and iodine excess individuals in the population should be monitored to avoid emerging problems. PMID: 31948188 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 19, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Internipple Distance and Internipple Index in Prepubertal Turkish Girls
Conclusions: The reference ranges provided by this study might be helpful for the evaluation of syndromic cases by serving as normative data for internipple index in prepubertal girls aged 6-11 years in Turkey and although ethnic differences may affect results even across countries. PMID: 31948189 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 19, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
Authors: Soylu Üstkoyuncu P, Gökay S, Eren E, Doğan D, Yıldız G, Yılmaz A, Türkan Mutlu F Abstract Abetalipoproteinaemia is an autosomal recessive disorder characterized by very low plasma concentrations of total cholesterol and triglyceride. It results from mutations in the gene encoding microsomal triglyceride transfer protein. Nine-month-old girl was admitted to our hospital because of fever, cough, diarrhea and failure to thrive. She had low cholesterol and triglycerides levels according to her age. The peripheral blood smear revealed acantocytosis. Thyroid function test showed central hypoth...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 10, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Vitamin D Status Across Age Groups in Turkey: Results of 108742 Samples from a Private Laboratory
Authors: Yeşiltepe-Mutlu G, Aksu ED, Bereket A, Hatun Ş Abstract Objective: This population-based study aimed to determine the vitamin D status in Turkey between 2011 and 2016, evaluate the effectiveness of the national vitamin D supplementation program. Methods: Data on serum 25-hydroxyvitamin D (25-OHD) measurements were retrieved from an internationally accredited laboratory operating nationwide. A total of 108,742 measurements of 25-OHD were analyzed using the cut-off values of 0-11 ng/ml, 12-19 ng/ml, 20-49 ng/ml, 50-70 ng/ml and>70 ng/ml. Results: Overall, the mean 25-OHD level was 21.6±13...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 4, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Bronchial Carcinoid tumour as a rare cause of Cushing ’s syndrome in children – A case report and review of literature
Conclusion: Bronchial carcinoid is extremely rare in children and only 4% of them are associated with CS. The postoperative treatment of CS is challenging with high prevalence of hypertension, increased BMI and visceral fat mass, impaired cognitive functions and decreased quality of life. Our patient was managed successfully by multidisciplinary approach and has recovered from hypertension and Cushing’s habitus. A careful follow up is indispensable to monitor recurrence of carcinoid and complete remission of CS. PMID: 31898446 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 4, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Intramuscular short-term ACTH test for the determination of adrenal function in children: safe, effective and reliable
Authors: Özsu E, Şıklar Z, Bilici E, Ceran A, Uyanık R, Çetin T, Aycan Z, Berberoğlu M Abstract Objective: Standart short ACTH stimulation test (SST) has been used for detecting adrenal gland fuction for several years by intravenous (iv). However iv form has not been accessed easily in some countries like ours. The aim of this study was to evaluate the effectiveness of the intramuscular (im) SST. Methots: Patients were underwent SST with suspected adrenal insufficiency and hyperandrogenism. The SSTs were done with 250 mcg ACTH (Synacthen Depot ampul, concentration 1mg/ml). The cases were divided...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 18, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A proposal for the interpretation of the serum IGF-I concentration as part of laboratory screening in children with growth failure
Authors: Wit JM, Bidlingmaier M, de Bruin C, Oostdijk W Abstract The serum IGF-I concentration is commonly used as a screening tool for growth hormone deficiency (GHD), but there is no consensus on the cut-off limit of IGF-I standard deviation score (SDS) to perform GH stimulation tests for confirmation or exclusion of GHD. We argue that the cut-off limit is dependent on the clinical pre-test likelihood of GHD and propose a diagnostic strategy in which the cut-off limit varies between none to -2 SDS. PMID: 31842524 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 18, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A > C(C.1957-2A > C) Mutation in GLI2 Gene
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(C.1957-2A>C) Mutation in GLI2 Gene J Clin Res Pediatr Endocrinol. 2019 Nov 29;: Authors: Demiral M, Demirbilek H, Unal E, Durmaz CD, Ceylaner S, Ozbek MN Abstract We, report a novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in GLI2 gene with an extremely distinct phenotypical expression in two siblings and their father from an unrelated family. The index case was a boy who developed cholestasis and hypoglycaemia at the neonatal period. He had po...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 1, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Soluble CD40 ligand levels in children with newly diagnosed Graves' disease
Conclusions: This preliminary study has evidence of high concentrations of sCD40L in children with newly diagnosed GD and it's correlations with TRAbs and thyroid volume which may suggest its biological active role in GD. PMID: 31782290 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - December 1, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Erratum
Authors: PMID: 31760732 [PubMed] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 27, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Early Onset Diabetes in Two Children due to Progeria, a Monogenic Disease of DNA Repair
We report two children with Progeria syndrome, in whom fulminant diabetes mellitus manifested at a very early age. PMID: 31752481 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 24, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Managing Paediatric Growth Disorders: Integrating Technology Into a Personalised Approach
Authors: Child J, Davies C, Frost K, McDermid E, Pidcock R, Weinman J, Savage MO Abstract Long-term growth management can be challenging for patients, families and healthcare professionals (HCP). Personalised optimal responses to growth hormone (GH) therapy depend on the creation of a good working relationship between the patient and family and the HCPs responsible for care. Current unmet needs in growth management will be discussed, focusing on the likelihood of a poor growth response and its identification and management with emphasis on the importance of good adherence to GH therapy. Digital tools are now availa...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 21, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Effects of Risk Behaviors and Orthorexic Behavior on the Glycemic Control in Adolescents with Type 1 Diabetes
This study aimed to investigate the risk behaviors of adolescents with T1D and the effect of orthorexic eating behaviors (OEB) on glycemic control (GC). Methods: This cross-sectional study was conducted with 107 adolescents with T1D who were between 13-18 years of age and attended high school. The risk behavior scale (RBS) and orthorexic behavior scale (ORTO-11) were administered to the participants. A high RBS score indicates risky behavior; a low ORTO-11 score suggests a tendency to OEB. At the same time, participants were tested for GC and categorized as optimal GC (HbA1c ≤7%) or poor GC (HbA1c>7%). Result...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 15, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Effects of Prehospital Care on Outcome in Pediatric Diabetic Ketoacidosis
Conclusion: Parents were not likely to call the ambulance for most cases, the higher complication rate occurred in EMS patients. EMS providers and referral facilities should improve their knowledge of pediatric DKA. PMID: 31722517 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 15, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Metabolic Bone Disease In Premature Neonates- An Unmet Challenge
Conclusion: Metabolic bone disease is a preventable morbidity in preterm, VLBW neonates and requires optimum nutritional supplementation and enhanced physical activity. PMID: 31674171 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - November 3, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Association of Total and High Molecular Weight Adiponectin with Components of Metabolic Syndrome in Mexican Children
Conclusions: In young children, the Total-adiponectin level is associated with impaired biochemical parameters and could be an excellent early predictor of metabolic complications. PMID: 31552725 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 27, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The Incidence and Demographical Distribution of Type 1 Diabetes Mellitus in Children Aged 16 or Younger Between 2000 and 2016 in Northern Cyprus
Conclusion: This study is the first to analyze the incidence of T1D in Northern Cyprus. Compared to other countries the incidence rate is intermediate. Our findings are similar to the incidence rates of T1D in South Cyprus and Turkey. PMID: 31552726 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 27, 2019 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research