Melnick−Needles Syndrome Associated with Growth Hormone Deficiency: A Case Report

Melnick−Needles syndrome is an X−linked dominant bone dysplasia characterized by a typical facies (exophthalmos, full cheeks, micrognathia, and malalignment of teeth), flaring of the metaphyses of long bones, s−like curvature of the lower extremities, irregular constriction in the ribs, and sclerosis of base of the skull. The phenotype of affected individuals varies, even within families. About fifty cases of Melnick−Needles syndrome have been reported to date. Short stature is not a well−known component of the disorder. There is only one reported case of Melnick−Needles syndrome associated with growth hormone deficiency

Tip 1 diabetes mellitus hastalarında tanı mevsimi değişiyor mu?

Objective: By the effect of global warming, climate model of Turkey is suggested to evolve through semi-arid seasons and to the tropical climate. This study aimed to determine the seasonability for clinical onset of Type 1 diabetes mellitus (T1DM). Method: T1DM patients newly diagnosed between 2014 and 2019 in our pediatric endocrinology department located in Istanbul were included in this study. Clinical onset date and age of diagnosis of diabetes were recorded for each patient. Using the worldwheatheronline.com website, regional average rainy days, cloudy days, sunny days, temperature, and ultraviolet index (UVI) were calculated per month for the past 6 years. Results: A total of 659 patients with the new onset T1DM included in this study. A number of new diagnosed patients were 29.1% (192) in winter, 22.8% (150) in spring, 17.6% (116) in summer, and 30.5% (201) in autumn, respectively. No significant effect of the rainy day, cloudy day, sunny day, temperature, and UVI average of the month of diagnosis could be detected on this seasonal shift. Similar results were obtained when 132 patients whose under 4 years of age at the time of diagnosis were excluded from the study data. Conclusion: Although weather conditions seemed to have no considerable effect on this seasonal shift, the T1DM onset in the autumn season was seen to be shifted to the spring season, partially. Further studies including large number of participants are needed for a better understanding of the seasonality of T1DM worldwide.Amaç: Küresel ısınma ile birlikte Türkiye’de mevsimlerin yarı kurak ve tropik iklim özelliklerine doğru evrildiği, son yıllarda sonbahar ve ilkbahar hava koşullarının yarısının kışa, yarısının da yaza benzer seyrettiği düşünülmektedir. Bu çalışmada, tip 1 diabetes mellitus klinik tanı zamanında mevsim değişikliğinin ve bu duruma hava koşullarının olası etkisinin incelenmesi amaçlandı. Yöntem: Çalışmaya İstanbul’daki çocuk endokrinoloji kliniğimizde 2014 ile 2019 yılları arasında yeni tanı almış 18 yaş altı tip 1 diabetes mellitus hastaları dahil edildi. Her hasta için klinik belirti başlangıç tarihi ve diyabet tanı mevsimi ile demografik veriler kaydedildi. Worldwheatheronline.com web sitesi kullanılarak İstanbul ilinin son beş yılındaki tip 1 diabetes mellitus tanı ayına ait aylık ortalama yağışlı gün, bulutlu gün, güneşli gün sayısı, sıcaklık ve ultraviyole indeks ortalaması saptandı. Hastaların tanı yaşı ile tanı mevsimi ve hava koşulları arasındaki ilişki istatistiksel olarak değerlendirildi. Bulgular: Çalışmaya 659 yeni tanı almış tip 1 diabetes mellitus hastası alındı. Çalışmaya alınan hastaların %50,4’ü kız (n=332), %49,6’sı (n=327) erkek idi. Mevsimlere göre yeni tanı konulan hasta sayısı sırasıyla kışın %29,1 (n=192), ilkbaharda %22,8 (n=150), yazın %17,6 (n=116) ve sonbaharda %30,5 (n=201) idi. Çalışma süresince tip 1 diabetes mellitus klinik başlangıcının kış ve sonbahar aylarında yüksek ilkbahar ve yaz aylarında düşük olduğu görülmekle beraber istatistiksel anlamı olacak şekilde 2016 yılı ve sonrasında sonbahar mevsimindeki diyabet başlangıç ağırlığının bir kısmının ilkbahar mevsiminekaymış olduğu izlendi. Ancak mevsimsel bu kayma üzerinde tanı ayına ait yağışlı gün, bulutlu gün, güneşli gün, sıcaklık ve ultraviyole indeks ortalamasının anlamlı bir etkisi saptanmadı. Tanı sırasında dört yaşın altında olan 132 hasta çalışma verilerinden çıkarılarak yapılan istatistiksel değerlendirmede sonuçların değişmediği görüldü. Sonuç: Çalışmamız ile sonbahar mevsimindeki diyabet başlangıç ağırlığının bir kısmının ilkbahar mevsimine kaymış olduğu tespit edilmiş olup bu mevsimsel kaymaya hava koşullarının etkisinin olmadığı görüldü. T1DM tanısında mevsimsel özelliklerin etkisini daha iyi değerlendirebilmek için daha çok sayıda hasta içeren geniş kapsamlı çalışmalara gereksinim duyulmaktadır

Common polymorphisms of growth hormone: Growth hormone receptor axis in Turkish children with short stature

Objective: A single-nucleotide polymorphism of the growth hormone 1 gene, GH1IVS4+90A>T (rs2665802), associated with short stature and a polymorphism of the growth hormone receptor gene, exon 3 deleted variant, associated with increased responsiveness to growth hormone have been reported previously. We aimed to investigate the frequency of both polymorphisms and their correlation to height in Turkish short children. Also, we aimed to evaluate the effect of exon 3 deleted variant on response to 1-year growth hormone therapy. Materials and Methods: Children with idiopathic isolated growth hormone deficiency (n = 39) and with idiopathic short stature (n = 10) and 50 control subjects were evaluated for anthropo-metric parameters, annual growth velocity, and annual height gain. Growth hormone receptor gene polymorphisms were analyzed via multiplex polymerase chain reaction; growth hormone 1 gene polymorphism was analyzed via polymerase chain reaction and single-strand confor-mation polymorphism techniques. Results: The frequency of genotypes carrying the “A” allele was not significantly higher in the idiopathic isolated growth hormone deficiency group than in the idiopathic short stature and control groups (P = .03 for each). The exon 3 deleted variant genotype was significantly lower in the idiopathic short stature group compared to the control group (P = .01). There was no effect of exon 3 deleted variant, on response to the first-year growth hormone therapy. Conclusion: In Turkish population, no correlation was found between the “A” allele of GH1IVS4+90A>T polymorphism and idiopathic isolated growth hormone deficiency and short stature, and a significant negative correlation was found between exon 3 deleted variant and idiopathic short stature and short stature. Exon 3 deleted variant has no effect on response to growth hormone treatment.Istanbul Universit

A Rare Case of Cholestasis: Arthrogryposis, Renal Tubular Disorder and Cholestasis Syndrome

Arthrogryposis, renal tubular dysfunction and cholestasis (ARC) syndrome is a rare, autosomal recessive multisystem disorder. Severe growth retardation, ichthyosis, recurrent febrile disease, platelet abnormalities, sensorineural hearing loss, hypotonia and corpus callosum dysgenesis were later included as further features of this syndrome. We present a case of ARC syndrome diagnosed by genetic analysis

Volume CXIV, Number 4, November 7, 1996

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

Ön fontaneli erken kapanan bebeklerde d vitamini replasmanının durdurulması: Doğru mu? Yanlış mı?

Objective: The purpose of this study was to determine whether fontanelle closure in neonatal and early infantry periods was related to vitamin D levels and the prophylaxis of vitamin D intake. Moreover, our analysis was structured in a retrospective, controlled manner to evaluate our hypothesis.Materials and Methods: We considered 50 individuals who applied to our child endocrinology polyclinic with infants suffering from premature anterior closure. Further, 35 healthy infants of the same age and gender having open anterior fontanelles were taken as the control group.Results: The serum vitamin D level was found to be lower, and the parathormone level was significantly higher in the group with premature closure of the anterior fontanelle. In addition, there was a significant difference in serum calcium, alkaline phosphatase and parathormone levels in patients who had ceased vitamin D support compared with regular vitamin D users. While there was no significant difference in serum vitamin D levels, the level was lower in patients who had withdrawn vitamin D support.Conclusion: In our study, many infants have much lower vitamin D levels than normal levels, even though their anterior fontanelle is prematurely closed. Thus, physicians and other health workers are also warned of the continuity of vitamin D prophylaxis and that it is wrong to cease vitamin D support for reasons such as the premature closing of the anterior fontanelle.Amaç: Biz çalışmamızda yenidoğan ve erken süt çocukluğu döneminde fontanel kapanmasının D vitamini düzeyi ve aldığı D vitamini profilaksisinin miktarı ile ilişkili olup olmadığını araştırmak istedik. Gereç ve Yöntemler: Çocuk endokrin polikliniğimize ön fon taneli 6. aydan erken kapanma şikayetiyle başvuran veya rutin muayene esnasında ön fontanelin 6.aydan önce kapandığı saptanan 50 hastanın çalışmaya alınması planlandı. Aynı yaş ve cinsiyetten ön fontaneli açık 35 sağlıklı çocuk kontrol grubu olarak alındı. Bulgular: Çalışmamızda, ön fontaneli erken kapanan grupta serum D vitamini düzeyi daha düşük saptanmasına karşın kontrol grubu ile arasında anlamlı bir fark saptanamadı. Serum parathormon düzeyi ise fontaneli erken kapanan hasta grubunda anlamlı olarak yükselmişti. D vitamini desteği kesilen hastalar ile düzenli D vitamini desteği alan hastalar karşılaştırıldığında serum kalsiyum, alkalen fosfataz ve parathormon düzeyleri arasında anlamlı fark saptandı. Serum D vitamini düzeyleri arasındaki fark anlamlı olmasa da D vitamini desteği kesilen hastalarda daha düşüktü. Sonuç: Çalışmamızda da gördüğümüz gibi ön fontaneli erken kapansa dahi vitamin D düzeyi normal hatta normalin altında birçok infant bulunmaktadır. Bu nedenle hem hekimlerin hem de diğer sağlık çalışanlarının D vitamini profilaksisinin devamlılığı konusunda uyarılması ve ön fontanel erken kapanması gibi sebeplerle D vitamini desteğinin kesilmesinin yanlış olduğu vurgulanmalıdır

The factors relevant to partial remission in children with type 1 diabetes mellitus after measles vaccination: A retrospective study

We aimed to identify the determinants of partial remission in patients with type 1 diabetes mellitus (DM), and whether there is an influence of vaccination against measles on partial remission. This was a retrospective study consisting of consecutive patients diagnosed with type 1 DM followed-up from 1 September 2010, through 30 November 2011. The study included children vaccinated within 3 months after diagnosis, and children unvaccinated during the first 12 months of the disease. The daily insulin dose, hemoglobin A1c, and C-peptide levels, and whether children are in partial remission based on the insulin dose-adjusted HbA1c were recorded at diagnosis and 3, 6, 9, 12, 24, and 36 months. A total of 55 children with type 1 DM were analyzed. Thirty-one patients (56.4%) reached partial remission during the follow-up period, whereas 24 of them did not. Patients with diabetic ketoacidosis (DKA) at diagnosis were less likely to reach partial remission than patients without DKA (odds ratio [OR], 0.24; 95% confidence interval [CI], 0.062-0.946;P = .038). Patients vaccinated against measles were more likely to be in partial remission than patients unvaccinated (OR, 4.2; 95% CI, 1.35-13;P = .011). Partial remission was significantly associated with the C-peptide level and insulin dosage at diagnosisP = .002;P = .013, respectively). The lack of DKA, higher C-peptide level, and lower insulin dosage at diagnosis, and vaccination against measles after diagnosis may have an influence on partial clinical remission in patients with new-onset type 1 DM