ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 12 Issue : 3 Year : 2023

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Volume: 12  Issue: 3 - 2020

Pages I - XI

2.Managing Paediatric Growth Disorders: Integrating Technology Into a Personalised Approach
Jenny Child, Christine Davies, Katie Frost, Eleanor McDermid, Rachel Pidcock, John Weinman, Martin O. Savage
doi: 10.4274/jcrpe.galenos.2019.2019.0153  Pages 225 - 232
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 available to record injections and communicate accurate adherence data to the HCP and patient. Psychological barriers to good adherence will be covered, with techniques identified to change behaviour and improve outcome. Motivational interviewing is a valuable skill in this respect and should be taught to both medical and nursing HCPs to enhance the quality of the relationship with the patient and family. Key messages are, firstly, the importance of personalised care with the HCP using acquired psychological skills to prevent and manage poor adherence. Secondly, a human-eHealth partnership is necessary to maximise the benefit of new digital tools to aid in successful growth management.

3.The Effects of Risk Behaviors and Orthorexic Behavior on Glycemic Control in Adolescents with Type 1 Diabetes
Demet Taş, Eda Mengen, Pınar Kocaay, Seyit Ahmet Uçaktürk
doi: 10.4274/jcrpe.galenos.2019.2019.0128  Pages 233 - 240
Objective: Adolescents with chronic disease are as likely to exhibit risk-taking behavior as their peers. The aim was to investigate the risk behaviors of adolescents with type 1 diabetes (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, aged between 13-18 years and attending high school. The Risk Behavior Scale (RBS) and Orthorexic Behavior Scale (ORTO-11) were administered. A high RBS score indicates risky behavior; a low ORTO-11 score suggests a tendency to OEB. Participants hemoglobin A1c (HbA1c) status was used to assess GC: optimal GC (HbA1c ?7%); or poor GC (HbA1c >7%).
Results: Among females, those with poor GC had significantly lower (p=0.031) ORTO-11 scores than those with optimal GC, which was not the case in males. A significant correlation (r=0.358, p<0.001) was found between HbA1c and total RBS, eating habits subscale, and suicidal tendency subscale scores. Participants with poor GC had significantly higher eating habits subscale, alcohol use, and tobacco use subscale scores (p<0.05). Among females, total RBS and suicidal tendency subscale score was found to be significantly higher in those with poor GC; among males, alcohol subscale score was found to be significantly higher in those with poor GC.
Conclusion: This study is the first to show the effect of the tendency for OEB on GC among female adolescents with T1D. The study showed that, along with inappropriate eating behaviors, adolescents with T1D should also be assessed for other risk behaviors to help achieve optimal GC.

4.Intramuscular Short-term ACTH Test for the Determination of Adrenal Function in Children: Safe, Effective and Reliable
Elif Özsu, Zeynep Şıklar, Esra Bilici, Ayşegü Ceran, Rukiye Uyanık, Tuğba Çetin, Zehra Aycan, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2019.2019.0099  Pages 241 - 247
Objective: Standard short adrenocorticotropic hormone (ACTH) stimulation test (SST) has traditionally been used for assessing adrenal gland fuction by intravenous (iv) application. However the iv form is not readily available in all countries, including Turkey. The aim of this study was to evaluate the effectiveness of the intramuscular (im) SST.
Methods: Patients underwent im SST with suspected adrenal insufficiency (AI) and hyperandrogenism. The SSTs were done with 250 mcg ACTH (Synacthen Depot ampul, concentration 1 mg/mL). The cases were divided into two groups: suspected AI (group 1 n=87); and hyperandrogenism group (group 2 n=124). Definite AI was defined as peak cortisol <18 µg/dL, suspected AI as a peak cortisol of 18-21 µg/dL and normal result was defined as a peak cortisol ?22 µg/dL.
Results: The mean age of the patients was 11.7±5.2 years. In 164 patients (78%) all of the peak cortisol tests were normal (?22 mcg/dL). The rates were 64% and 88% in group 1 and 2, respectively. Only 8.5% (n=18) of all cases had an inadequate peak cortisol response of <18 mcg/dL. On follow up, 15 patients whose peak cortisol was <18 mcg/dL needed cortisol therapy. Of all cases 3.3% (n=8) had 17-OHP ?10 ng/dL. Clinical findings suggestive of non-classical congenital adrenal hyperplasia and/or mutation were found in six of these cases (75%). No local and systemic side effects or allergic reactions were observed in any patient.
Conclusion: IM ACTH SST is a safe, effective and reliable test in children with suspected AI. There were no local or systemic side effects, supporting the reliability of the im ACTH test.

5.Vitamin D Status Across Age Groups in Turkey: Results of 108,742 Samples from a Single Laboratory
Gül Yeşiltepe-Mutlu, Ekin Deniz Aksu, Abdullah Bereket, Şükrü Hatun
doi: 10.4274/jcrpe.galenos.2019.2019.0097  Pages 248 - 255
Objective: The aim was to determine vitamin D status in the general population in Turkey between 2011 and 2016, and to evaluate the effectiveness of the national vitamin D supplementation programme.
Methods: Serum 25-hydroxyvitamin D (25-OHD) measurement data 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 for vitamin D deficiency, insufficiency, sufficiency, possibly harmful and excess respectively.
Results: The mean±standard deviation 25-OHD level was 21.6±13.3 ng/mL. Mean 25-OHD concentrations by age groups were: 37.3 ng/mL, 30.1 ng/mL and 23.7 ng/mL for <1, 1-10 and 11-18 year old groups, respectively. Mean 25-OHD levels of children <1 year and 1-3 years of age were significantly higher than those found in other age groups. The prevalence of vitamin D deficiency (<12 ng/mL) was lowest in children at 1-3 years of age (5%). In subjects older than 18 years of age, mean 25-OHD levels were 18.2 ng/mL, 20.1 ng/mL, 21.9 ng/mL and 21.1 ng/mL for age groups 19-30, 31-50, 51-70 and >70 years, respectively.
Conclusion: Successful implementation of the national vitamin D supplementation programme, appears to have nearly eliminated vitamin D deficiency for children under 1-years of age. However, the positive impact of the vitamin D supplementation diminishes as children get older suggesting that supplementation may be required in the older children and adults. In addition, improved awareness of the benefits and risks of excess vitamin D should prevent unnecessary and excessive use of vitamin D supplements.

6.The Results of 16 Years of Iodization: Assessment of Iodine Deficiency Among School-age Children in Antalya, Turkey
Gamze Çelmeli, Yusuf Çürek, İkbal Özen Kücükçetin, Zümrüt Arslan Gülten, Sebahat Özdem, Sema Akçurin, İffet Bircan
doi: 10.4274/jcrpe.galenos.2020.2019.0168  Pages 256 - 260
Objective: Iodine deficiency (ID) continues to be a problem around the world. This study investigated the prevalence of ID and goiter among school-age children in the city center of Antalya, Turkey. The aim was to investigate the effect of an iodization program, which had been running for sixteen years, on nutritional iodine status in this population.
Methods: A total of 1,594 school children, aged 6-14 years, were included in this cross-sectional study. ID was evaluated based on median [interquartile range (IQR)] urine iodine/creatine (UI/Cr) (µg/g) ratio and median (IQR) UI concentrations (UIC) (µg/L). UICs were measured using the Sandell-Kolthoff method. Goiter was determined by palpation and staged according to World Health Organization classification.
Results: Median (IQR) UIC was found to be 174.69 (119.17-242.83) µg/L, and UIC was found to be lower than 50 µg/L in 6.5% of the population. The median UI/Cr ratio increased from 62.3 to 163.3 µg/g and goiter rates had decreased from 34% to 0.3% over the 16 years of the program. However, 19% were still classified as ID (mild, moderate or severe) and, furthermore, 11.5% were classified as excessive iodine intake.
Conclusion: Comparison of two cross-sectional studies, carried out 16-years apart, showed that Antalya is no longer an ID region. However, surveillance should be continued and the percentage of ID and iodine excess individuals in the population should be monitored to avoid emerging problems.

7.Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
Fatma Derya Bulut, Semine Özdemir Dilek, Damla Kotan, Eda Mengen, Fatih Gürbüz, Bilgin Yüksel
doi: 10.4274/jcrpe.galenos.2020.2019.0191  Pages 261 - 268
Objective: Mutations of the genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation may lead to combined pituitary hormone deficiency (CPHD). PROP1 gene mutations are reported as the most frequent genetic aetiology of CHPD. The aim of this study was to describe the phenotypes of Turkish CPHD patients and define the frequency of PROP1 mutations.
Methods: Fifty-seven CPHD patients from 50 families were screened for PROP1 mutations. The patients were affected by growth hormone (GH) and additional anterior pituitary hormone deficiencies.
Results: All patients had GH deficiency. In addition, 98.2% had central hypothyroidism, 45.6% had hypogonadotropic hypogonadism, 43.8% had adrenocorticotropic hormone deficiency and 7.1% had prolactin deficiency. Parental consanguinity rate was 50.9% and 14 cases were familial. Mean height standard deviation score (SDS) and weight SDS were -3.8±1.4 and -3.1±2.0, respectively. Of 53 patients with available pituitary imaging, 32 (60.4%) showed abnormalities. None had extra-pituitary abnormalities. Eight index patients had PROP1 gene mutations. Five sporadic patients were homozygous for c.301_302delAG (p.Leu102CysfsTer8) mutation, two siblings had exon 2 deletion, two siblings had complete gene deletion and two siblings were homozygous for the novel c.353A>G (p.Q118R) mutation. The frequency of the PROP1 mutations was 16% in our cohort. Mutation rate was significantly higher in familial cases compared to sporadic cases (42.8% vs 11.6%; p<0.01).
Conclusion: Phenotype of patients regarding hormonal deficiencies, pituitary morphology, presence of extra-pituitary findings, family history of CPHD and parental consanguinity are important for deciding which pituitary transcription factor deficiency should be investigated. PROP1 mutation frequencies vary in different populations and its prevalence is high in Turkish CPHD patients.

8.Internipple Distance and Internipple Index in Prepubertal Turkish Girls
Seda Erişen Karaca, Şengül Cangür, İlknur Arslanoğlu
doi: 10.4274/jcrpe.galenos.2020.2019.0161  Pages 269 - 274

To determine internipple distance and internipple index in prepubertal Turkish girls.

The internipple distance and chest circumference of 667 healthy prepubertal Turkish girls aged 6 to 11 years were measured in a school screening program in Düzce. Measurements were performed at the end of expiration with a standard non-stretch tape measure graduated in millimeters with the arms hanging in a relaxed position on the sides of the body. The internipple distance was measured between the centers of both nipples, and chest circumference was measured across the internipple line. The internipple index was calculated by dividing the internipple distance (cm) x100 by the chest circumference (cm). Age specific internipple index reference curves were constructed and smoothed with the Lambda-Mu-Sigma method. Mean and standard deviations of internipple distance and internipple index were calculated according to decimal ages.

Age was found to be positively correlated with internipple distance and chest circumference, while it was negatively correlated with internipple index. The reference values of internipple index, including 3rd, 10th, 25th, 50th, 75th, 90th, and 97th percentiles, and standard deviations were calculated for prepubertal girls.

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 although ethnic differences may affect applicability to other countries.

9.Validity of Six Month L-Thyroxine Dose for Differentiation of Transient or Permanent Congenital Hypothyroidism
Muhammet Asena, Meliha Demiral, Edip Unal, Murat Öcal, Hüseyin Demirbilek, Mehmet Nuri Özbek
doi: 10.4274/jcrpe.galenos.2020.2019.0170  Pages 275 - 280
Objective: The tendency to reduce thyroid stimulating hormone (TSH) referral cut-off values in congenital hypothyroidism (CH) neonatal screening programs has resulted in an increase in the incidence of CH, but also the referral of infants with mild transient elevation of TSH. Therefore, there is a need to develop markers for differentiation of transient elevated TSH and permanent CH as early as safely possible to avoid unnecessary treatment. The aim was to evaluate sixth-month L-thyroxine (LT4) dose as a predictive marker for differentiation of transient elevated TSH and permanent CH.
Methods: Data of patients who had been followed after referral from the neonatal screening programme between the year 2010 and 2019 in a tertiary pediatric endocrine centre were examined retrospectively.
Results: There were 226 cases referred, of whom 186 (82.3%) had eutopic thyroid gland, and 40 (17.7%) had dysgenetic gland. In patients with a dysgentic gland there was a non-significant tendency to have lower diagnostic free thyroxine concentration but significantly higher TSH compared with those with eutopic gland (p=0.44 and p=0.023, respectively). Patients with thyroid dysgenesis required higher initial and six month LT4 doses compared with those with eutopic glands (p=0.001). Receiver operator curve analysis showed the optimum cut-off value for LT4 at six months for transient vs. permanent CH was 2 µg/kg/day (sensitivity 77% and specificity 55%), regardless of etiology. Similarly, in patients with eutopic glands the optimum cut-off value for LT4 dose at six months for permanent vs. transient patients was 2 µg/kg/day (sensitivity 72% and specificity 54%).
Conclusion: Results suggest that LT4 requirement at six months of therapy may be a good marker for predicting transient TSH elevation in patients with eutopic thyroid gland, thus facilitating the decision to halt LT4 therapy.

10.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?
Barbara Wasyl-Nawrot, Malgorzata Wójcik, Joanna Nazim, Jan Skupien, Jerzy B. Starzyk
doi: 10.4274/jcrpe.galenos.2020.2019.0133  Pages 281 - 286
Objective: One of the hypothesized reasons for the observed increase in 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 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 body mass index-standard deviation score (BMI-SDS) at the time of diagnosis.
Methods: Retrospective data analysis from medical records of all patients <14 years (n=559; 50.6% male), with newly diagnosed type 1 diabetes, in Lesser Poland between 1st January 2006 and 31st December 2017 (11 years).
Results: The incidence ratio ranged significantly (p<0.001) from the lowest in 2006 (11.2/100,000/year) to the highest in 2012 (21.9/100,000/year). The mean age of diagnosis was 8.2±3.5 years. There was no trend in decreasing diagnosis age (p=0.43). The mean BMI-SDS was -0.4±1.2. Almost all children (91.6%) presented with BMI-SDS within the normal range at the time of diagnosis, with only 2.7% of cases being obese and 5.7% underweight at the moment of diagnosis. There was no clear trend at all in BMI-SDS over the study period.
Conclusion: These results do not corroborate an increase of type 1 incidence in paediatric population being associated with younger age of diagnosis and higher BMI-SDS. This implies that the accelerator hypothesis does not hold true in the study population.

11.Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
Tülay Güran, Başak Tezel, Meltem Çakır, Ayşehan Akıncı, Zerrin Orbak, Mehmet Keskin, Beray Selver Eklioğlu, Alev Ozon, Mehmet Nuri Özbek, Gülay Karagüzel, Nihal Hatipoğlu, Fatih Gürbüz, Filiz Mine Çizmecioğlu, Cengiz Kara, Enver Şimşek, Firdevs Baş, Murat Aydın, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2020.2019.0182  Pages 287 - 294
Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes.
Methods: Retrospective, descriptive study. Neonates of ?32 gestational weeks and ?1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17?-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatography-tandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+17-OHP)/F of ?0.7 (increased from ?0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment.
Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11%) required second-tier testing and 880 (0.36%) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11ß-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100%). The incidence of classical 21-OHD and 11ß-OHD in the screened population was 1: 15,067 and 1: 60,270, respectively.
Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11ß-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.

12.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
Meliha Demiral, Edip Unal, Birsen Baysal, Rıza Taner Baran, Hüseyin Demirbilek, Mehmet Nuri Özbek
doi: 10.4274/jcrpe.galenos.2020.2019.0218  Pages 295 - 302
Objective: The aim was to determine the final adult height (FAH) achieved by recombinant human growth hormone (rhGH) treatment, the factors affecting FAH and the success of attaining the genetic potential.
Methods: Data of 133 patients treated with rhGH therapy were reviewed retrospectively. Patients were grouped according to diagnosis, either isolated GH deficiency (IGHD) or multiple pituitary hormone deficiency (MPHD), and by sex, and pubertal status at the beginning of treatment.
Results: The mean age of initiation of treatment was 12.3±2.18 years, and the mean duration of rhGH treatment was 3.65±1.5 years. The mean height standard deviation score (SDS) at diagnosis was -3.11±0.75 SD. All patients received a standardized GH dose of 0.033 mg/kg/day. Mean FAH-SDS was -1.8±0.77 and delta height-SDS (the change in height SDS between the beginning and end of treatment) was 1.28±0.94 SD. FAH-SDS was -1.79±0.86 SD in males; -1.82±0.64 in females (p=0.857); -1.94±0.71 at the beginning of treatment in pubertal patients and -1.68±0.81 in prepubertal patients (p=0.056); -1.84±0.89 in patients with IGHD and -0.47±0.2 in patients with MPHD (p?0.05). In multiple regression analysis, First year delta height-SDS was the most predictive factor for both FAH-SDS and delta height-SDS.
Conclusion: The majority of our patients achieved a final height compatible with their genetic potential as well as population standards when treated with rhGH even having started at a relatively late age. First year delta height-SDS was a predictive factor for FAH.

13.Children with Hashimoto’s Thyroiditis Have Increased Intestinal Permeability: Results of a Pilot Study
Banu Küçükemre Aydın, Melek Yıldız, Abdurrahman Akgün, Neval Topal, Erdal Adal, Hasan Önal
doi: 10.4274/jcrpe.galenos.2020.2019.0186  Pages 303 - 307
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 shown to indicate IIP in human subjects. In this case-control study, we examined the hypothesis that patients with HT have IIP. We studied 30 children and adolescents with HT, and 30 patients with congenital hypothyroidism (CH) matched for age, gender and body mass index (BMI). Serum zonulin levels, free thyroxine (fT4), thyroid stimulating hormone (TSH), anti-thyroglobulin antibody and anti-thyroid peroxidase antibody were measured. Zonulin levels were significantly higher in patients with HT than patients with CH (59.1±22.9 ng/mL vs. 43.3±32.9 ng/mL, p=0.035). In patients with HT, zonulin levels were positively correlated with weight (r=0.406, p=0.03), BMI (r=0.486, p=0.006) and levothyroxine dose (r=0.463, p=0.02). In patients with CH, zonulin levels were positively correlated with age (r=0.475, p=0.008), weight (r=0.707, p<0.001), BMI (r=0.872, p<0.001) and levothyroxine dose (r=0.485, p=0.007). After adjusting for age, weight, TSH and fT4 levels, serum zonulin was only associated with levothyroxine dose in patients with HT (R2=0.36, p=0.05). In patients with CH, only weight was associated with zonulin levels (R2=0.62, p<0.001). In conclusion, higher zonulin levels in children and adolescents with HT suggested IIP in these patients. Additionally, the association between zonulin levels and levothyroxine dose might imply a relationship between serum zonulin and disease severity.

14.A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report
Eda Mengen, Gülsüm Kayhan, Pınar Kocaay, Seyit Ahmet Uçaktürk
doi: 10.4274/jcrpe.galenos.2019.2019.0101  Pages 308 - 314
The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost no subjects with 46,XX ovotesticular DSD have sex-determining region of the Y chromosome (SRY) gene. It is known that excessive expression of SRY-related high mobility group box 9 (SOX9) is the cause of SRY-negative 46,XX ovotesticular DSD in the absence of SRY. Here, we analyzed our SRY-negative case with 46,XX ovotesticular DSD. In an array comparative genomic hybridization study using a peripheral blood sample from the patient, a duplication of 1114 kb (Hg19 coordinates: chr17:69006280-70120619) in the region of 17q24.3 containing SOX9 was detected. This is the first case reported from Turkey, exhibiting SOX9 duplication in SRY-negative 46,XX ovotesticular DSD.

15.Early Onset Diabetes in Two Children due to Progeria, a Monogenic Disease of DNA Repair
Martin Holder, Valerie Schwitzgebel
doi: 10.4274/jcrpe.galenos.2019.2019.0126  Pages 315 - 318
Progeria syndrome is a rare disorder in childhood which causes accelerated systemic aging. Due to the accelerated aging process, disorders which normally occur only in old age will appear in these children at a much younger age. We report two children with progeria syndrome, in whom fulminant diabetes mellitus manifested at a very early age.

16.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 the GLI2 Gene
Meliha Demiral, Hüseyin Demirbilek, Edip Unal, Ceren Damla Durmaz, Serdar Ceylaner, Mehmet Nuri Özbek
doi: 10.4274/jcrpe.galenos.2019.2019.0142  Pages 319 - 328
A novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in the GLI2 gene is reported. There was an extremely distinct phenotypical expression in two siblings and their father. The index case was a boy who developed cholestasis and hypoglycaemia in the neonatal period. He had bilateral postaxial polydactyly, mid-facial hypoplasia, high palatal arch, micropenis, and bilateral cryptorchidism. Laboratory examination revealed a diagnosis of multiple pituitary hormone deficiency. There was severe anterior pituitary hypoplasia, absent pituitary stalk and ectopic posterior pituitary on magnetic resonance imaging which suggested pituitary stalk interruption syndrome with no other midline structural abnormality. Molecular genetic analysis revealed a novel heterozygous splicing IVS11-2A>C(c.1957-2A>C) mutation detected in the GLI2 gene. His father and a six-year-old brother with the identical mutation also had unilateral postaxial polydactyly and mid-facial hypoplasia although there was no pituitary hormone deficiency. This novel heterozygous GLI2 mutation detected appears to present with an extremely variable clinical phenotype, even in related individuals with an identical mutation, suggesting incomplete penetrance of this GLI2 mutation.

17.The Results of 16 Years Iodization: Assessment of Iodine Deficiency Among School-age Children in Antalya, Turkey
Zheng Feei Ma
doi: 10.4274/jcrpe.galenos.2019.2019.0036  Pages 329 - 330
Abstract |Full Text PDF


doi: 10.4274/jcrpe.galenos.2020.e002  Page 331
Abstract |Full Text PDF

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