The Value of Telemedicine for the Follow-up of Patients with New Onset Type 1 Diabetes Mellitus During COVID-19 Pandemic in Turkey: A Report of Eight Cases.
Authors: Evin F, Er E, Ata A, Jalilova A, Demir G, Atik Altınok Y, Özen S, Darcan Ş, Gökşen D Abstract BACKGROUND: The current COVID-19 pandemic has forced health care teams to look for alternative approaches to manage a great number of children with diabetes not only in rural but also in urban locations. Our aim in this COVID-19 pandemic was to provide information about the follow-up of new onset type 1 diabetes (T1D) patients and to discuss the integration of telemedicine into routine clinical care in the long term. METHODS: The changes in Coefficient of variation (CV), standard deviation (SD); p...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 23, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth
In conclusion, male hemizygous carriers of a pathogenic IGSF1 variant can present with FT4 levels above the lower limit of the reference range, and severe early onset obesity or premature testicular growth are part of the phenotypic spectrum. PMID: 33045800 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 14, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Growth Hormone Treatment and Papilledema: a Prospective Pilot Study.
CONCLUSIONS: Growth hormone treatment is a cause of pseudotumor cerebri syndrome. In our series, at risk patients had growth hormone deficiency and hypothalamic-pituitary anatomic anomalies or genetic or chromosome diseases. Fundus examination should be systematically screened in all patients in this at-risk group irrespective of the presence or not of symptoms. PMID: 33006547 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 4, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Is Waist-Height Ratio Associated with Thyroid Antibody Levels in Children with Obesity?
Authors: Ozcabi B, Tarcin G, Sengenc E, Tahmiscioglu Bucak F, Ercan O, Bolayirli IM, Evliyaoglu O Abstract OBJECTIVE: Obesity is known to affect thyroid functions. Recently, waist-height ratio (WHtR) has been considered as a useful marker of subclinical hypothyroidism in obese cases, but its relation with thyroid autoimmunity still remains unclear. We evaluated the effect of body fat mass, WHtR, and metabolic parameters on thyroid autoantibody levels in children with obesity. METHODS: This is a cross-sectional study carried out with an obese (n=56, M/F:29/26) and a healthy group (n=38, M/F:19/19). All subjects ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 4, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

"The My Friend Diabetes Camp" was Held Online in Turkey This Year Due to the COVID-19 Pandemic.
"The My Friend Diabetes Camp" was Held Online in Turkey This Year Due to the COVID-19 Pandemic. J Clin Res Pediatr Endocrinol. 2020 Oct 02;: Authors: Hatun Ş, Yeşiltepe Mutlu G, Gökçe T, Can E, Muradoğlu S, Eviz E, Cemhan K PMID: 33006551 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 4, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Time of the Peak, Shape of the Curve and Combination of These Glucose Response Characteristics During Oral Glucose Tolerance Test as Indicators of Early Beta-Cell Dysfunction in Obese Adolescents.
Authors: Sabolić LG, Šepec MP, Berković MC, Stipančić G Abstract OBJECTIVE: Characteristics of the glucose response during oral glucose tolerance test (OGTT) may reflect differences in insulin secretion and action. We aimed to examine whether timing of the glucose peak, shape of the glucose curve and their combination could be indicators of beta-cell dysfunction in obese/severely obese adolescents with normal glucose tolerance (NGT). METHODS: Data from 246 obese/severely obese adolescents who completed OGTT were reviewed. Out of 184 adolescents with NGT, 174 could be further classified into groups ba...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 4, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Important Tools for Use by Pediatric Endocrinologists in the Assessment of Short Stature.
Authors: Labarta JI, Ranke MB, Maghnie M, Martin D, Guazzarotti L, Pfäffle R, Koledova E, Wit JM Abstract Assessment and management of children with growth failure has improved greatly over recent years. However, there remains a strong potential for further improvements by use of novel digital techniques. A panel of experts discussed developments in digitalization of a number of important tools used by pediatric endocrinologists at the third 360° European Meeting on Growth and Endocrine Disorders, funded by Merck KGaA, Germany, and this review is based on those discussions. It was reported that electronic ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 4, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience.
CONCLUSION: We determined etiologies in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/without molecular analysis of candidate genes. ALD was the most common etiology. Nowadays, advanced molecular analyse can be utilized to establish a specific genetic diagnosis of PAI for patients who have no specific diagnostic features. PMID: 32938577 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 18, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Very High Incidence of Type 1 Diabetes Among Children Aged Under 15 Years in Tlemcen, Northwest Algeria (2015-2018).
This study aims to determine the incidence of T1D in children under the age of 15 years, living in Tlemcen in Northwest Algeria. METHODS: A retrospective study conducted on data of children (
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 18, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Quality of Life and Psychological Well-Being in Child and Adolescent with Disorders of Sex Development.
CONCLUSION: Our study is important to emphasize that psychiatric disorders in DSD patients negatively affect the quality of life. Psychiatric support and counseling of multidisciplinary team are very important in DSD cases. PMID: 32938579 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 18, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families; the Role of Homozygosity Mapping in the Early Diagnosis.
CONCLUSION: Our study expands the mutation spectrum of WSF1 mutations with three novel mutations. Homozygosity mapping may provide enrichment for molecular genetic analysis and early diagnosis of WS1 patients with incomplete phenotype, particularly in consanguineous pedigrees. PMID: 32938580 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 18, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Methylation Status of GLP2R, LEP and IRS2 in Small for Gestational Age Children with and Without Catch-Up Growth.
Authors: Angulo M, Ramirez-Montaño D, Torres-Canchala L, García X, Lemus R, Aristizabal AM, Floyd-Aristizábal D, Dávalos DM, Diaz-Ordoñez L, Pachajoa H Abstract INTRODUCTION: In small for gestational age (SGA) children, catch-up growth could be influenced by several gene methylation involved in metabolic process. Epigenetic may influence the development of metabolic diseases in adulthood. OBJECTIVE: To compare the methylation of leptin (LEP), glucagon-like peptide-2 receptor (GLP2R), insulin receptor substrate-2 (IRS2) in SGA patients with and without catch-up growth. METH...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 17, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type IA due to 6.7Kb Deletion of GH1 Gene.
Authors: Ghosh S, Chakraborty PP, Bankura B, Maiti A, Biswas R, Das M Abstract Isolated growth hormone (GH) deficiency type I A is a rare autosomal recessive disorder caused by deletion of the GH1 gene and characterized by early onset severe short stature and typical phenotype. Lack of exposure to GH during fetal life often leads to formation of anti-GH antibody following exposure to the least immunogenic recombinant human GH (rhGH). Some patients with circulating ant-GH antibodies demonstrate lack of growth response to GH while others do not. However, the clinical significance of this antibody is unclear hence not...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 17, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Transforming Growth Factor- β1 and Receptor for Advanced Glycation end Products Gene Expression and Protein Levels in Adolescents with Type 1 Diabetes Mellitus.
Transforming Growth Factor-β1 and Receptor for Advanced Glycation end Products Gene Expression and Protein Levels in Adolescents with Type 1 Diabetes Mellitus. J Clin Res Pediatr Endocrinol. 2020 Sep 17;: Authors: Ninić A, Bojanin D, Sopić M, Mihajlović M, Munjas J, Milenković T, Stefanović A, Vekić J, Spasojević-Kalimanovska V Abstract OBJECTIVES: Type 1 diabetes mellitus (T1D) is one of the most frequent autoimmune diseases in childhood. Chronic complications are the main causes of cardiovascular morbidity and mortality in T1D. Although interactions between advanced glycation end products...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 17, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Catch-up Growth in Prepubertal Children Treated for Juvenile Hypothyroidism and Growth Hormone Deficiency can be Modelled with a Monomolecular Function.
CONCLUSION: Modelling CUG of prepubertal children with JHT and GHD can be used for assessing the adequacy of CUG and the influence of clinical treatment modalities on its speed and magnitude. PMID: 32936765 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 17, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A New Cause of Obesity Syndrome Associated with a Mutation in Carboxypeptidase (CPE) Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism
CONCLUSION: This study provides additional evidence on the association between a homozygous nonsense mutation in CPE and a clinical phenotype with obesity, intellectual disability and hypogonadotropic hypogonadism, which can be considered as a new monogenic obesity syndrome. PMID: 32936766 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 17, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Erratum
Authors: PMID: 32885921 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - September 6, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Brain Abscess in a Patient with Osteopetrosis: A Rare Complication.
Authors: İşeri Nepesov M, Kıral E, Bozan G, Kılıç Ö, Çarman KB, Yarar C, Şaylısoy S, Dinleyici EÇ Abstract Brain abscess formation is extremely rare in patients with osteopetrosis. Herein, we report a case of viridans streptococci brain abscess in an immunocompromised child diagnosed with osteopetrosis. The patient presented with a sudden change in mental status and convulsions. Radiological evaluation revealed a temporal lobe brain abscess, and intravenous antibiotherapy was started immediately. The patient underwent abscess drainage, and laboratory investigation of pus material re...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 27, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Clinical Management in Systemic Type Pseudohypoaldosteronism Due to SCNN1B Variant and Literature Review.
Authors: Karacan Küçükali G, Çetinkaya S, Tunç G, Oğuz MM, Çelik N, Akkaş KY, Şenel S, Güleray Lafcı N, Savaş Erdeve Ş Abstract Systemic pseudohypoaldosteronism is a rare salt wasting syndrome that is caused by inactivating variants in genes encoding epithelial sodium channel subunites. Hyponatremia, hyperkalemia, metabolic acidosis, increased aldosteron and renin levels are expected findings of this disease. It is difficult to manage this disease due to high dose oral replacement therapy. Furthermore patients with systemic pseudohypoaldosteronism require life-long t...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 27, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Unusual Presentation of a Denys-Drash Syndrome Girl with Undisclosed Assumption of Biotin.
We describe a 46,XX girl with Denys-Drash syndrome (DDS), showing both kidney disease and genital abnormalities, in whom a misdiagnosis of hyperandrogenism was made. A 15 year-old girl was affected by neonatal nephrotic syndrome, progressing to end stage kidney failure. Hair loss and voice deepening were noted during puberty. Pelvic ultrasound and MRI showed utero-tubaric agenesis, vaginal atresia and urogenital sinus, with inguinal gonads. Gonadotrophin and estradiol levels were normal, but testosterone levels increased up to 285 ng/dL at Tanner stage 3. She underwent prophylactic gonadectomy and histopathology reported f...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 27, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
Authors: Mısırlıgil M, Yıldız Y, Akın O, Odabaşı Güneş S, Arslan M, Ünay B Abstract Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder caused by mutations in the KDM6A gene. In the majority of KS patients who present with hypoglycemia, KDM6A is the defective gene. A 9-month old girl was admitted to our emergency department due to a seizure. In the physical examination, hypotonia, mild facial dysmorp...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 25, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Frequency of Celiac Disease and Spontaneous Normalization Rate of Celiac Serology in Children and Adolescent Patients with Type 1 Diabetes.
This study aims to determine the frequency of spontaneous recovery of celiac serology and the biopsy-proven CD frequency (BPCD) in patients with T1DM. Methods: The data of 668 patients with celiac serology from 779 patients who were followed for the last 10 years with the diagnosis of T1DM were retrospectively evaluated. Results: Positive serology was detected in 103 out of 668(15.4%) patients. There was spontaneous normalization in 24(23.3%), fluctuation in 11(10.7%) and permanently positive serology in 68(66%) of these patients. In 46 out of 53(86.8%) patients with positive serology diagnosis of CD was confirmed ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 22, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey.
Conclusions: Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is known much more common between the ages of 6 and 24 months, in rare cases it may present as late as 12 or even 24 months of age. Molecular diagnosis in NDM is important for planning treatment and predicting prognosis. Therefore, genetic testing is essential in these patients. PMID: 32820876 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 22, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Case of Familial Male-Limited Precocious Puberty with a Novel Mutation.
In this report, we present a case of FMPP with a novel mutation in the LHCGR gene, who has been responding well to therapy using both drugs. PMID: 32757547 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 14, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene.
Authors: Turkkahraman D, Karatas Torun N, Randa NC Abstract Loss-of-function mutations in immunoglobulin superfamily, member 1 (IGSF1) gene cause X-linked central hypothyroidism, and therefore its mutation affects mainly males. Central hypothyroidism in males is the hallmark of the disorder, however some patients additionally present with hypoprolactinemia, transient and partial growth hormone deficiency, early/normal timing of testicular enlargement but delayed testosterone rise in puberty, and adult macroorchidism. Here, we report a boy with congenital central hypothyroidism caused by a novel variant in IGSF1 gen...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 14, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Indonesian National Growth Reference Charts better reflect height and weight of Children in West Java Indonesia than WHO Growth Charts Standards.
Conclusion: WHOGCS seriously overestimates the true prevalence of undernutrition in Indonesian children. The present investigation fails to support evidence of undernutrition at a prevalence similar to the over 50% prevalence of stunting (WHOGCS) versus 13.3% (INGRC). We suggest refraining from using WHOGCS, and instead applying INGRC that closely mirror height and weight increments in Bandung children. They appear superior for practical and clinical purposes such as detecting growth and developmental disorders. PMID: 32772522 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - August 14, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Vandetanib in a child affected by neurofibromatosis type 1 and medullary thyroid carcinoma with both NF1 and homozygous RET proto-oncogen germ-line mutations.
Authors: Demir Gundogan B, Sagcan F, Tug Bozdogan S, Balci Y, Tuncel Daloglu F, Citak EC Abstract Cases of neurofibromatosis type 1 (NF1)-associated medullary thyroid carcinoma (MTC) or C-cell hyperplasia are rarely associated with other endocrine tumors or cases with a multiple endocrine neoplasia type 2 (MEN2). In these patients, mutations were detected in the NF1 gene but no mutations were detected in the RET gene. Although vandetanib has been shown to improve progression-free survival in adults with advanced MTC, data in pediatric patients are limited. Herein, we report the use and outcome of vandetanib in a pe...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 28, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Association of exosomal miR-34a with markers of dyslipidemia and endothelial dysfunction in children and adolescents with T1DM.
Conclusion: This is the first study that reported the altered expression of exosomal miR-34a among children and adolescents with T1DM. Moreover, association of miR-34a with markers of dyslipidemia and endothelial dysfunction was identified, suggesting that it could play a role in regulation of lipid metabolism and endothelial function in T1DM. PMID: 32654473 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 15, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Clinical and genetic characteristics of patients with corticosterone methyloxidase deficiency type 2: Novel mutations in CYP11B2.
Authors: Turan H, Dağdeviren Çakır A, Özer Y, Tarçın G, Özcabi B, Ceylaner S, Ercan O, Evliyaoğlu SO Abstract Corticosterone methyloxidase deficiency type 2 is an autosomal recessive disorder presenting with salt loss and failure to thrive in early childhood. It is caused by inactivating mutations of the CYP11B2 gene. Herein, we describe four Turkish patients from two families who have clinical and hormonal features compatible with corticosterone methyloxidase deficiency and inherit novel CYP11B2 variants. All of the patients presented with vomiting, failure to thrive and severe dehydrat...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 18, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Two subsequent metachroneus solid tumors: Oncocytic variant adrenocortical carcinoma and rhabdomyosarcoma of childhood: Case report and Literature Review.
Authors: Akin O, Atas E, Atasoy İA, Durmaz N, Kartal Ö Abstract Most cases of malignancies appear to be sporadic, but some syndromes are associated with malignancies with germline variants. Herein, a child with an unusual association of oncocytic variant adrenocortical carcinoma (ACC) and rhabdomyosarcoma was presented. An 18-month-old-boy was admitted with virilization of the genital area, penis enlargement, and erection which had begun six months ago. Serum total testosterone: 457 ng/dl (
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 18, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant.
We describe a 3-person kindred (mother and 2 sons) who presented with a unique phenotype of OI. Our patients demonstrated a pattern of prenatal bone deformities followed by multiple nontraumatic long bone fractures within the first two years of life and then an absence of nontraumatic fractures thereafter. No extraskeletal manifestations have been noted to date. The mother did not receive bisphosphonate therapy but had no nontraumatic fractures after age 5 months. Intravenous bisphosphonate therapy was started for both sons within 2 months of birth with the most recent infusions at age 18 months and 28 months in patient 2 ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 12, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Sirolimus therapy and follow-up in a patient with severe congenital hyperinsulinism following subtotal pancreatectomy.
This report suggests that sirolimus may be an effective treatment option in patients with CHI resistant to traditional medical therapy or failure of subtotal pancreatectomy. However, the long-term safety needs to be studied in larger group of very young patients. PMID: 32482020 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 4, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

Hypophosphatasia - The Unusual Presentation.
Authors: Sergi CM PMID: 32482021 [PubMed - as supplied by publisher] (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - June 4, 2020 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research

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