Search

© 2021 American College of Medical Genetics and GenomicsPurpose: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency. Methods: We used next-generation sequencing to identify variants in all pedigrees. Expression of Rnpc3/RNPC3 was analyzed by in situ hybridization on murine/human embryonic sections. CRISPR/Cas9 was used to generate mice carrying the p.Leu483Phe pathogenic variant in the conserved murine Rnpc3 RRM2 domain. Results: We described 15 patients from 9 pedigrees with biallelic pathogenic variants in RNPC3, encoding a specific protein component of the minor spliceosome, which is associated with a hypopituitary phenotype, including severe growth hormone (GH) deficiency, hypoprolactinemia, variable thyrotropin (also known as thyroid-stimulating hormone) deficiency, and anterior pituitary hypoplasia. Primary ovarian insufficiency was diagnosed in 8 of 9 affected females, whereas males had normal gonadal function. In addition, 2 affected males displayed normal growth when off GH treatment despite severe biochemical GH deficiency. In both mouse and human embryos, Rnpc3/RNPC3 was expressed in the developing forebrain, including the hypothalamus and Rathke's pouch. Female Rnpc3 mutant mice displayed a reduction in pituitary GH content but with no reproductive impairment in young mice. Male mice exhibited no obvious phenotype. Conclusion: Our findings suggest novel insights into the role of RNPC3 in female-specific gonadal function and emphasize a critical role for the minor spliceosome in pituitary and ovarian development and function.

Objective: We aimed to investigate a possible role of the endocrine disruptors phthalates, di-2-ethylhexyl phthalate (DEHP) and mono (2-ethylhexyl) phthalate (MEHP), in polycystic ovary syndrome (PCOS) aetiopathogenesis. We also wished to evaluate the relationship between phthalates and metabolic disturbances in adolescents with PCOS. Methods: A total of 124 adolescents were included. Serum MEHP and DEHP levels were determined by high-performance liquid chromatography. Insulin resistance was evaluated using homeostasis model assessment-insulin resistance, quantitative Insulin Sensitivity Check Index, fasting glucose/insulin ratio, Matsuda index, and total insulin levels during oral glucose tolerance test. Participants were further subdivided into lean and obese subgroups according to body mass index (BMI). Results: Sixty-three PCOS and 61 controls, (mean age 15.2±1.5; range: 13-19 years) were enrolled. Serum DEHP and MEHP concentrations were not significantly different between PCOS and control groups. The mean (95% confidence interval) values of DEHP and MEHP were 2.62 (2.50-2.75) μg/mL vs 2.71 (2.52-2.90) μg/mL and 0.23 (0.19-0.29) μg/mL vs 0.36 (0.18-0.54) μg/mL in PCOS and the control groups respectively, p>0.05. Correlation analysis, adjusted for BMI, showed that both phthalates significantly correlated with insulin resistance indices and serum triglycerides in adolescents with PCOS. 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.

Background/Aim: Animal studies have shown that endocrine-disrupting chemicals can cause transient hypothyroidism. The aim of this study is to investigate the effects of exposure to endocrine disrupting chemicals (polychlorinated biphenyls (PCBs), polybrominated biphenyls (PBBs), bisphenol A (BPA) in plastics) in intrauterine life on thyroid function tests during the neonatal period. Methods: In this observational cohort study, cord blood samples were obtained from all infants at birth to measure endocrine disruptors. Serum bisphenol A, di-(2-ethylhexyl) phthalate, and mono-ethylhexyl phthalate levels were measured by high performance liquid chromatography (HPLC). We excluded newborns whose mothers had thyroid function disorders. Results: The male newborns’ cord bisphenol A concentrations were significantly higher than those of female newborns (1.14 (0.26) ng/ml vs 0.85 (0.25) ng/ml, respectively; P=0.007). When we examined the correlation between the cord blood phthalate values and the maternal and newborn’s thyroid function tests, a negative relationship between mono-ethylhexyl phthalate and newborn thyroid stimulating hormone was detected (r= -0.284, P=0.003). Conclusion: A negative correlation was detected between cord blood mono-ethylhexyl phthalate levels and neonatal thyroid stimulating hormone levels suggesting that phthalate exposure may affect the thyroid function of babies in the prenatal period.

Background Obesity is a significant public health problem worldwide. Vitamin deficiencies, developing due to monotype nutrition, are more likely to be observed in patients than healthy children. The present study evaluates vitamin and micronutrient levels in children and adolescents with obesity and metabolic syndrome compared to healthy controls. Methods The study included 73 patients with obesity, 64 patients with metabolic syndrome and 71 healthy children (control group) aged 10 to 16 years. Physical examinations were performed, and waist circumference and systolic blood pressure measurements were recorded. Fasting blood glucose, triglyceride, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, total cholesterol, insulin, vitamin A, vitamin E, vitamin B1, vitamin B2, vitamin B6, vitamin B12, folic acid and free carnitine levels were analyzed. The homeostatic model of assessment-insulin resistance (HOMA-IR) index was calculated and recorded. Results The mean age of all patients was 11.9±2.6 years. The serum insulin level and HOMA-IR index were found to be significantly higher in the obesity and metabolic syndrome groups. No significant difference was found between the groups in terms of vitamin A, vitamin B6 and free carnitine levels. Significantly decreased vitamin E, vitamin B2, vitamin B12 and folic acid and increased vitamin B1 levels were observed in the obesity and metabolic syndrome groups. Conclusions Compared to healthy children, children with obesity and metabolic syndrome may have varying degrees of micronutrient and vitamin deficiency due to poor and unbalanced eating habits. These deficiencies should also be considered in the treatment and follow-up of obesity and metabolic syndrome.

Purpose Hyperinsulinemia is related to the development of several chronic diseases, particularly obesity. Therefore, this study aimed to examine the association between the insulinemic potential of both total diet and meals, measured by the glycemic index (GI), glycemic load (GL), insulin index (II), and insulin load (IL), and overweight risk among children and adolescents. Methods This cross-sectional study was conducted on 205 overweight and 146 normal-weight participants aged 6-18 years. Overweight was defined as body mass index >= 85th percentile of Turkish growth-reference data. Through the use of standard methodology, dietary and meal GI, GL, II, and IL were derived from dietary data collected via a 3-day dietary record. Associations were investigated using multivariable-adjusted regression analysis. Results When controlling for potential covariates, a greater dietary II (OR 2.69, 95% CI 1.28, 5.68) and IL (OR 5.22, 95% CI 2.39, 11.38), as well as GL (OR 3.89, 95% CI 1.77, 8.56), was strongly associated with higher odds of overweight (both P-for trend < 0.001). Furthermore, breakfast GL (OR 4.87, 95% CI 2.15, 11.01), II (OR 3.88, 95% CI 1.79, 8.39), IL (OR 4.93, 95% CI 2.20, 11.05) and dinner GL (OR 2.39, 95% CI 1.10, 5.20), II (OR 3.81, 95% CI 1.73, 8.41), IL (OR 3.63, 95% CI 1.67, 7.91) were found to be a significant independent predictor of overweight (all P-for trend < 0.001) in pediatric population. Conclusion Our results suggest that dietary insulin demand, particularly for breakfast and dinner, was independently associated with overweight in children and adolescents. These findings may shed light on the relevance of considering meal insulin demand while developing dietary strategies in this population.

IMAGe syndrome is an acronym which stands for the intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita (AHC) and genitourinary abnormalities. Congenital adrenal hypoplasia is the most serious component of the syndrome which generally occurs during the first months of life. In the presented case, shortness of extremities was detected antenatally and the symptoms of adrenal failure showed up on the 4th day of life. Because the adrenal insufficiency is a life-threatening condition, early diagnosis of this syndrome is very important. Recognition of other components of the disease makes early intervention possible. Being a rare disease, a case with IMAGe syndrome is presented with a short review of the literature., İntrauterin büyüme geriliği (İUGR),metafizyal displazi, adrenal hipoplazi konjenita, genital anomalilerinbirlikteliği olarak bilinen İMAGe sendromu, ismini bu hastalıkların başharflerinden almıştır. Konjenital adrenal hipoplazi en ciddi bulgusudur vegenellikle hayatın ilk aylarında meydana gelir. Sunulan hastada da antenataldönemde ektremite kısalığı saptanmış olup adrenal yetmezlik bulguları postnatal4. gününde ortaya çıkmıştır. İMAGe sendromunun erken tanısı, sendrombileşenlerinden olan surrenal yetmezliğin hayati tehlikeye neden olmasıaçısından önemlidir. Sendromun diğer bileşenlerinin bilinmesi karşılaşılanolguda erken müdahaleyi de mümkün kılar. Burada nadir görülmesi nedeniyle İMAGEsendromlu bir olgu, sendromla ilgili kısa literatür bilgileri ilepaylaşılacaktır.&nbsp

Patients who have secondary pseudohypoaldosteronism (PHA) in addition to hyponatraemia, hyperpotassaemia and high serum aldosterone levels for the age were included in this retrospective study.Among eight patients, seven patients were diagnosed with PHA secondary to obstructive uropathy (OUP), whereas one patient had PHA secondary to ileostomy. Six patients with OUP had simultaneous urinary tract infection (UTI) and in all except one patient, secondary PHA recovered with only UTI treatment before applying surgical correction. All the patients were younger than 3 months age. In three patients with PUV diagnosis, salt wasting recurred in an UTI episode under 3 months of age.

Argun M, Baykan A, Hatipoglu N, Akin L, Sahin Y, Narin N, Kurtoglu S. Arrhythmia in thiamine responsive megaloblastic anemia syndrome. Turk J Pediatr 2018; 60: 348-351. Thiamine responsive megaloblastic anemia syndrome (TRMAS) is a rare, autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness. Mutations in the SLC19A2 gene that codes for thiamine transporter 1 protein cause TRMAS, and more than 30 homozygous mutations have been identified to date. Congenital heart diseases and arrhythmias have been reported in few patients. We present cardiac features of five patients with TRMAS. Five patients had macrocytic anemia, diabetes mellitus, and sensorineural deafness. Two siblings had also optic atrophy. SLC19A2 gene mutation was shown in all patients. Two patients developed supraventricular tachycardia during an episode of diabetic ketoacidosis. Five patients had absent P waves on baseline electrocardiography, and one patient had additional low QRS voltage. None of the patients had structural heart disease. Discontinuation of thiamine treatment appears to trigger supraventricular tachycardia episodes at puberty.

The aim of this study was to investigate the relationship between autism spectrum disorders development and exposure to mono-(2-ethylhexyl)-phthalate (MEHP), di-(2-ethylhexyl)-phthalate (DEHP), and bisphenol A (BPA), 1 of the endocrine disruptors, among phthalates. The study included 48 children with autism spectrum disorder (27 boys, 21 girls) and 41 healthy subjects (24 boys, 17 girls) as controls. Serum MEHP, DEHP, and BPA levels were measured by using high-performance liquid chromatography. Children with autism spectrum disorder had significantly increased serum MEHP, DEHP, and BPA concentrations (0.47 +/- 0.14 mu g/ml, 2.70 +/- 0.90 mu g/ml, 1.25 +/- 0.30 ng/ml) compared to healthy control subjects (0.29 +/- 0.05 mu g/ml, 1.62 +/- 0.56 mu g/ml, 0.88 +/- 0.18 ng/ml) respectively (P = .000). The fact that higher serum MEHP, DEHP, and BPA were found levels in the autism spectrum disorder group compared to healthy controls suggests that endocrine disruptors may have a role in the pathogenesis of autism spectrum disorders.

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease have not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. Currently there are around 80 reported patients although this is likely due to underdiagnosis due to lack of recognition. We present two female patients suspected of ROHHAD due to weight gain starting in early childhood. Clinical and biochemical findings such as respiratory and circulatory dysfunction, hypothalamic hypernatremia, central hypothyrodism, hyperprolactinemia and central early puberty in these patients matched the criteria for ROHHAD syndrome. ROHHAD syndrome should be considered in the differential diagnosis of monogenic obesity.

Aim Experimental in vitro studies have shown that bisphenol A affects steroidogenesis, folliculogenesis and ovarian morphology. The aim of this study was to investigate the role of the endocrine disruptor bisphenol A in the aetiopathogenesis of polycystic ovary syndrome (PCOS) in adolescents and its relationship with metabolic parameters, insulin resistance and obesity in this population. Methods A total of 112 girls with PCOS and 61 controls between 13 and 19 years of age were enrolled in the study. Serum bisphenol A levels were measured by high-pressure liquid chromatography. An oral glucose tolerance test was also performed. Results Adolescents with PCOS had markedly increased serum bisphenol A levels (mean: 1.1 ng/mL 95% CI: 1.0–1.2) than controls (mean: 0.8 ng/mL 95% CI: 0.6–0.9, p = 0.001). When we compared the subgroups according to obesity, the main factor determining the significant increase in bisphenol A was the presence of PCOS, but not obesity (p = 0.029). Bisphenol A was significantly correlated with total testosterone (r = 0.52), free testosterone (r = 0.44), dehydroepiandrosterone sulphate (r = 0.37) and Ferriman–Gallwey score (r = 0.43) (p

Primary hyperparathyroidism (PHPT) in children and adolescents is a rare condition. PHPT is usually sporadic and caused by parathyroid adenoma. Patients may present with bone pain, proximal myopathy, bony deformities, fractures, renal calculi, mass on the neck, or acute pancreatitis. A sixteen-year-old boy presented to our outpatient clinic with difficulty in walking due to swelling of both ankles. Ultrasonography revealed intratendinous calcific nodules in both Achilles tendons. Serum biochemistry showed hypercalcemia and hypophosphatemia. Serum parathormone level was high (512 pg/mL). Parathyroid scanning revealed a suspected parathyroid adenoma. The patient underwent parathyroidectomy and the diagnosis of parathyroid adenoma was confirmed by histopathology. Serum levels of parathyroid hormone, phosphate, and calcium returned to normal, and the tenderness over the Achilles tendon and the flow pattern on Doppler examination disappeared as well. In conclusion, hyperparathyroidism should be kept in mind in the differential diagnosis of tendonopathies. Early diagnosis can be crucial for prevention of severe complications.

Amac: Turner sendromlu hastalarda boy kisaligi buyume hormonu ile tedavi edilebilmektedir Bu calismada Turner sendromlu Turk cocuklarinda uc yillik buyume hormonu tedavisine yaniti ve tedavi sirasinda buyumeye etki edebilecek etmenlerin degerlendirilmesi amaclanmistir Gerec ve Yontem: Buyume hormonu tedavisi almis 46 Turner sendromlu hastanin tibbi kayitlari geriye donuk olarak incelendi Karyotip hastaneye basvuru yasi buyume hormonu tedavisi baslama yasi anne ve baba boylari ayrica tedavinin baslangicinda birinci ikinci ve ucuncu yillarinda cocugun boy agirlik yillik buyume hizi buyume hormonu dozu kemik yasi ve ongorulen boy degerleri kaydedildi Hedef boy Z skoru ve var olan boy Z skoru arasindaki fark delta Z skor olarak ifade edildi Bulgular: Hastaneye basvuru yasi 10 2 plusmn;3 8 yil tedavi baslangic yasi 11 54 plusmn;3 03 yil ve hedef boy 157 0 plusmn;6 0 cm idi Tedavinin baslangicinda birinci ikinci ve ucuncu yilinda boy Z skoru sirasiyla 3 76 plusmn;1 00 3 37 plusmn;1 01 2 99 plusmn;0 97 2 82 plusmn;1 01 olarak saptandi yillik buyume hizi ise yine sirasiyla 3 24 plusmn;1 05 6 53 plusmn;1 52 5 77 plusmn;1 53 5 19 plusmn;1 25 cm idi Birinci yil buyume hizi ile tedavi baslangicindaki kronolojik ve kemik yasi delta Z skor ve baba boyu ile negatif iliski buyume hormonu dozu ile arasinda ise pozitif iliski saptandi Coklu regresyon analizlerinde birinci yil buyume hizina etki eden en onemli etmenin tedavi baslangic yasi ve buyume hormonu dozu oldugu goruldu Cikarimlar: Birinci yil buyume hizini etkileyen etmenler; tedavi baslangic yasi buyume hormonu dozu ve delta Z skor olarak saptandi Bu calisma tani sonrasi cok kisa bir surede tedavi baslanmasinin onemli oldugunu gostermektedir Turk Ped Arfl 2013; 48: 294 8

Background:Vitamin D (VD) deficiency (VDD) is still a population-based health problem that affects people at different ages. The aim of this study was to evaluate VD prophylaxis for the prevention of VDD in (3–36)-month-old infants and children.Methods:Infants and children aged between 3 and 36 months, with different etiologies, admitted to outpatient and inpatient clinics from October 2010 to October 2011 at the Children’s Hospital of Erciyes University, were enrolled for the study. Their VD intake (if used; time of initiation, dosage and compliance) and nutritional status (breast-fed, formula or complementary fed) were noted. In order to study seasonal VD changes, the levels of serum calcium, phosphorus and magnesium, alkaline phosphatase activity (PLA), plasma parathyroid hormone (PTH) and 25 hydroxyvitamin 25(OH)D levels were measured at the beginning of VD supplementation during the four seasons.Results:A total of 316 subjects were enrolled in the study, consisting of 202 (63.9%) outpatient and 114 (26.1%) inpatient groups. From these subjects, 304 (96.2%) were supplemented with VD; whereas 12 (3.8%) were not. Out of the subjects supplemented with VD, 237 (75%) initiated VD after the second week of life, 267 (87.8%) were given three drops of VD daily and 209 (66.1%) had taken VD regularly. The plasma 25(OH)D levels were found to be lower in the inpatient group than the outpatient group (29.35 ng/mL and 34.35 ng/mL, respectively). The plasma 25(OH)D levels were lower during the spring and winter. VDD and VD insufficiency (VDI) was found in 31 (9.8%) and 30 (9.5%) subjects, respectively.Conclusions:The plasma 25(OH)D levels were lower in inpatient and breast-fed only subjects and in winter and spring. The national VD augmentation program seems to be beneficial for the prevention of VDD, but VDD/VDI seems to still be an important health problem.

Background/Aims: Congenital hypothyroidism (CH) in neonates is associated with lipid alterations that might be a risk factor for early cardiovascular disease in adult life. The aim of this study was to investigate the effect of CH on lipid metabolism and aortic intima media thickness (aIMT) as a unique finding of the increased risk of atherogenic risk in neonatal age. Methods: The study group consisted of 15 newborns with CH who were identified by neonatal mass screening (patient group), and 25 healthy newborns (control group). Serum lipid profiles and aIMT obtained from abdominal aorta were measured in all subjects. Results: The mean aIMT were higher in the patient group (0.46 +/- 0.062 mm) compared with the control group (0.34 +/- 0.035 mm; p = 0.006). The weight-adjusted aIMT of patients (0.13 +/- 0.017 mm/kg) was also significantly greater than that of the controls (0.10 +/- 0.019 mm/kg; p < 0.001). Total serum cholesterol levels were significantly higher in patients than those in healthy controls (130.80 +/- 44.46 vs. 99.96 +/- 18.87 mg/dl). The other lipid levels including triglyceride, low-density lipoprotein (LDL), high-density lipoprotein cholesterol and LDL cholesterol levels of the patients were slightly higher than those of the controls, without statistical significance. Conclusion: Neonates with CH have significantly higher aIMT with lipid alterations. Hypothyroidism might increase the risk of early atherosclerosis even in the neonatal period. Copyright (C) 2013 S. Karger AG, Basel, Abstract Background/Aims: Congenital hypothyroidism (CH) in neonates is associated with lipid alterations that might be a risk factor for early cardiovascular disease in adult life. The aim of this study was to investigate the effect of CH on lipid metabolism and aortic intima media thickness (aIMT) as a unique finding of the increased risk of atherogenic risk in neonatal age. Methods: The study group consisted of 15 newborns with CH who were identified by neonatal mass screening (patient group), and 25 healthy newborns (control group). Serum lipid profiles and aIMT obtained from abdominal aorta were measured in all subjects. Results: The mean aIMT were higher in the patient group (0.46 ± 0.062 mm) compared with the control group (0.34 ± 0.035 mm; p = 0.006). The weight-adjusted aIMT of patients (0.13 ± 0.017 mm/kg) was also significantly greater than that of the controls (0.10 ± 0.019 mm/kg; p < 0.001). Total serum cholesterol levels were significantly higher in patients than those in healthy controls (130.80 ± 44.46 vs. 99.96 ± 18.87 mg/dl). The other lipid levels including triglyceride, low-density lipoprotein (LDL), high-density lipoprotein cholesterol and LDL cholesterol levels of the patients were slightly higher than those of the controls, without statistical significance. Conclusion: Neonates with CH have significantly higher aIMT with lipid alterations. Hypothyroidism might increase the risk of early atherosclerosis even in the neonatal period. Copyright © 2013 S. Karger AG, Basel. &nbsp

WOS: 000378819700011, PubMed ID: 26964727, Aim: The causes of gonadotropin-independent precocious puberty are diverse, and often have overlapping clinical and biochemical features. With the exception of congenital adrenal hyperplasia (CAH), disorders that cause gonadotropin-independent precocious puberty (GIPP) are uncommon. The literature is devoid of any large-scale studies on the etiologic distribution of GIPP. The aim of this study was to determine the frequency of each etiology in a cohort of patients with GIPP (excluding those with CAH), and to evaluate the clinical and laboratory features of these patients. Materials and Methods: This multicenter, nationwide web-based study collected data on patients who presented with non-CAH GIPP in Turkey. Results: Data were collected for 129 patients (102 girls and 27 boys) from 29 centers. Based on the data collected, the estimated prevalence of non-CAH GIPP in the studied population was 14 in 1 000 000 children. Functional ovarian cyst was the most common etiology, accounting for 37% of all cases, followed by McCune-Albright syndrome (MAS) (26%). Among the patients with MAS, 11.7% had fibrous dysplasia, 32.3% had caf-au-lait spots, and 52.9% had both. Human chorionic gonadotrophin-secreting tumors included choriocarcinoma of the liver, hepatoblastoma, and germ cell tumors of the sellar-suprasellar region and mediastinum. Patients with adrenocortical tumors presented at an earlier age than those with other etiologies. Ovarian tumors included mature cystic teratoma, dysgerminoma, juvenile granulosa tumor, and steroid cell tumor. Despite overlapping features, it was possible to identify some unique clinical and laboratory features associated with each etiology. Conclusion: This largest cohort of patients with non-CAH GIPP to date yielded an estimation of the frequency of non-CAH GIPP in the general pediatric population and showed that girls were affected at a rate 4-fold greater than that of boys owing to functional ovarian cysts and MAS, which were the two most common etiologies. The data collected also provided some unique characteristics associated with each etiology., Turkish Pediatric Endocrinology and Diabetes Society [052014], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (No: 052014).

Aim To investigate the presence of association between nonalcoholic fatty liver disease (NAFLD) and subclinical atherosclerosis using carotid intima media thickness (c-IMT) in obese children and adolescents. Additionally, we wished to investigate the relationship between fatty liver and elevated liver enzymes. Methods A total of 157 obese patients (78 boys and 79 girls, mean age: 11.3 ± 2.6 years, age range: 6–16 years) were enrolled in the study. Aminotransferase, fasting glucose and lipid levels were determined. An oral glucose tolerance test was performed. The c-IMT was measured. Infectious and metabolic causes of elevated liver enzymes were excluded. The diagnosis of NAFLD was based on ultrasound scan. Results Obese patients with NAFLD had markedly increased carotid IMT (mean: 0.48 mm, 95% CI: 0.47–0.49) than those without NAFLD (mean: 0.45 mm 95% CI: 0.44-0.45, p

Familial glucocorticoid deficiency (FGD) or hereditary unresponsiveness to adrenocorticotropin (ACTH) is an autosomal recessive disorder characterized by isolated glucocorticoid deficiency associated with normal mineralocorticoid secretion. Mutations in genes encoding either ACTH receptor or melanocortin 2 receptor accessory protein are responsible for the disease in about 50% of cases, named FGD type 1 and type 2, respectively. Patients may present with hyperpigmentation, recurrent infections, failure to thrive, hypoglycemic seizures, and coma in infancy or early childhood. Here we report the case of a 17-day-old newborn diagnosed with FGD type 1 who presented with hyperbilirubinemia and hyperpigmentation, a sign which was erroneously assumed to be due to prolonged phototherapy by the referring physician. Hormone analysis showed low cortisol and high ACTH levels with normal serum electrolytes and renin-aldosterone axis. Genetic analysis revealed a novel homozygous melanocortin 2 receptor mutation p.Leu225Arg in the patient. The healthy parents were heterozygous for the mutation. Copyright (C) 2011 S. Karger AG, Basel

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease resulting from resistance to the action of adrenocorticotropic hormone (ACTH) on the adrenal cortex, which leads to isolated glucocorticoid deficiency with normal mineralocorticoid secretion. It may present in infancy or early childhood with hyperpigmentation, failure to thrive, recurrent infections, hypoglycemic attacks and convulsions that may result in coma or death. Laboratory investigations reveal low cortisol and androgen levels with high ACTH associated with normal reninaldosterone axis. The disorder may be caused by mutations in the gene of ACTH receptor (MC2R), or mutations in the newly described melanocortin− 2 receptor accessory protein (MRAP) namely, FGD type 1 and FGD type 2, respectively. Twenty five percent of FGD cases are due to the mutations of the ACTH receptor, while FGD type 2 accounts for approximately 15−20% of FGD cases. Here, we report a six−month−old male infant, who presented with recurrent hypoglycemic convulsions. Serum hormone analysis showed low cortisol and androgen levels associated with a high ACTH concentration. No mutation was found in the NR0B1 and MC2R genes excluding congenital adrenal hypoplasia and FGD type 1. We found a homozygous deletion (c. 106+1delG) in intron 3 of MRAP gene. To our knowledge, this is the first Turkish patient reported with FGD type 2 due to a known MRAP mutation. Conflict of interest:None declared.

ABALI, SAYGIN/0000-0001-6552-2801; Gurbuz, Fatih/0000-0003-2160-9838; Hatun, Sukru/0000-0003-1633-9570; Abaci, Ayhan/0000-0002-1812-0321; Turan, Serap/0000-0002-5172-5402; Buyukinan, Muammer/0000-0002-2937-823X; yuksel, bilgin/0000-0003-4378-3255; Ozgen, Ilker Tolga/0000-0001-6592-9652; binay, cigdem/0000-0002-7749-8818; ozkan, Behzat/0000-0002-9153-8409; Demir, Korcan/0000-0002-8334-2422; Eren, Erdal/0000-0002-1684-1053 WOS: 000373099300016 PubMed: 26788866 To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P

WOS: 000360842500004, PubMed: 26831551, Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients., Turkish Pediatric Endocrinology and Diabetes Society [012013], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grand number: 012013).

Gonadotropin-releasing hormone analogues are used in the treatment of prostate cancer, breast cancer, endometriosis, and uterine leiomyomas in adults and often in the treatment of precocious puberty in children. Many adverse effects have been reported for gonadotropin-releasing hormone analogues, but anaphylaxis is rarely reported as an adverse effect. Frequent cross-reactions, particularly during childhood, and diversity of the time of onset of anaphylactic manifestations complicate the diagnosis. A patient who exhibited anaphylactic allergic reactions to two different agents used in the treatment of central precocious puberty presented here because the case has an atypical course and is the first in the literature.

To assess the plasma Pentraxin 3 (PTX3) concentrations in obese children and to investigate the relationship between PTX3 levels and metabolic syndrome (MS) components. Seventy-seven obese patients aged 10–16 y (38 girls, 39 boys) were included in the study. PTX3 levels were compared between the groups with or without MS. In addition, PTX3 was analysed separately by subgroups according to the presence of specific MS components. Plasma PTX3 concentrations were significantly higher in obese children and adolescents with metabolic syndrome than in those without MS (2.1 ± 1.2 ng/ml and 1.4 ± 0.9 ng/ml respectively; P = 0.02). Patients with low HDL levels (

WOS: 000351307200005, PubMed ID: 25800473, 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 lifespan.

Subcutaneous fat necrosis of the newborn (ScFN) is an uncommon condition caused by generalized and/or local tissue hypoperfusion. The skin lesions of ScFN tend to improve spontaneously. However, ScFN may also lead to complications which cause serious problems. The severity of the etiologic factors contributing to the development of the disease determines the severity of complications. Therefore, these patients should be closely monitored for complications, especially for hypercalcemia which may be life-threatening. The severity and duration of hypercalcemia are associated with the extensity of skin lesions. We present a newborn who developed ScFN as a result of systemic hypotension. The ScFN resolved after the first few weeks of life, but the patient developed mild hypercalcemia during the 4-month follow-up period. The infant was breast-fed during follow-up, and vitamin D prophylaxis was not initiated. The hypercalcemia resolved within four months without any complications. We would like to draw attention to the need to monitor serum calcium levels in these infants and to refrain from initiating vitamin D prophylaxis in the first months of life. Conflict of interest:None declared.

There are close interactions among the developing oral cavity, pituitary gland, and central nervous system (CNS) in early embryonic life. In this study we aimed to screen endocrine abnormalities in patients with orofacial clefts in the neonatal period. Materials and methods: Thirty-one patients with isolated orofacial median clefts were included in the study. Pituitary, thyroid, and adrenal hormones were measured at the first week and remeasured in the third or fourth weeks. Imaging studies were done for detection of CNS anomalies in all patients. Results: Endocrine abnormality was detected in 22 (70.9%) patients. The number of patients with single and multiple endocrine abnormalities were 13 (41.9%) and 9 (29%), respectively. Thyroid hormone-related disorders were detected in 10 (32.3%) patients. Growth hormone deficiency was detected in 4 (12.9%) patients. Adrenocorticotrophic hormone and/or glucocorticoid deficiency was detected in 5 (16.1%) patients. Neonatal hypoglycemia due to endocrinological abnormalities was detected in 6 (19.4%) patients. Defected mini-puberty was seen in 2 (15.4%) patients. There was no relationship between the types of orofacial cleft and endocrine abnormalities. Conclusion: Endocrinological evaluation of the patients with orofacial clefts in the neonatal period is a worthwhile endeavor to detect hormone deficiencies regardless of the type of the cleft.

Vitamin D deficiency rickets (VDDR) is a disorder biochemically characterized by elevated serum alkaline phosphatase (ALP) activity, normal or decreased serum calcium (Ca) and inorganic phosphate concentrations, secondary hyperparathyroidism and decreased serum 25−hydroxyvitamin D (25(OH)D) levels. In stage 1 VDDR, urinary amino acid and phosphate excretion are normal with minimal or no findings of rickets on radiographs. Pseudohypoparathyroidism (PHP) is an inherited disorder characterized by end−organ resistance to parathormone (PTH). VDDR occasionally resembles PHP type 2 in clinical presentation and biochemical features, creating difficulties in the differential diagnosis of these two entities. Here we report an infant diagnosed with VDDR. In addition to inadequate vitamin D intake, usage of antiepileptic drugs (AED) may have led to the worsening of the vitamin D deficiency. The patient presented with a history of febrile convulsions, for which he received phenobarbital treatment. The initial findings of hypocalcemia, hyperphosphatemia and normal tubular reabsorption of phosphate, mimicking PHP 2, responded well to vitamin D and oral Ca treatment with normalization of serum Ca, phosphorus (P), ALP and PTH levels Conflict of interest:None declared.

Iodine overload frequently leads to transient hyperthyrotropinemia or hypothyroidism, and rarely to hyperthyroidism in neonates. Iodine exposure can be prenatal, perinatal or postnatal. Herein we report two newborn infants who developed severe hypothyroidism due to iodine overload. The overloading was caused by excessive use of an iodinated antiseptic for umbilical care in the first case, and as a result of maternal exposure and through breast milk with a high iodine level in the second case. Presenting the two cases, we wanted to draw attention to these preventable causes of hypothyroidism in infants. Conflict of interest:None declared.

Acquired primary adrenal insufficiency is a rare disorder in childhood. The most common cause is autoimmune adrenalitis, especially as a part of polyendocrinopathy syndromes. Impaired adrenal function is seen in patients infected with HIV. In adult patients with AIDS, cytomegalovirus (CMV)-associated adrenal insufficiency is a well-known condition, whereas CMV infection as a causing adrenal insufficiency in children is very rare. Here, we report an infant with transient adrenal insufficiency associated with CMV infection but without HIV. She was treated successfully with steroid replacement and ganciclovir. Early diagnosis and treatment is lifesaving in these patients.

Objective Autism spectrum disorders (ASDs) are a group of complex neurodevelopmental disorders where many studies have been conducted and many factors have been implicated in the etiology. The aim of this study was to investigate the relationship between ASD development and exposure to mono-(2-ethylhexyl)-phthalate (MEHP), di-(2-ethylhexyl)-phthalate (DEHP), and bisphenol A (BPA), one of the endocrine disruptors, among phthalates. Methods The study included 48 children with autism (27 boys, 21 girls) and 24 healthy subjects (14 boys, 10 girls) as controls. Serum MEHP, DEHP, and BPA, levels were measured by using high performance liquid chromatography (HPLC). Results Children with autism had significantly increased serum MEHP, DEHP, and BPA concentrations, (0.47±0.14 μg/ml, 2.70±0.90 μg/ml, 1.25±0.30 ng/ml) than healthy control subjects (0.29±0.05 μg/ml, 1.93±0.62 μg/ml, 0.95±0.22 ng/ml) respectively. When serum MEHP, DEHP and BPA levels were compared between groups, endocrine disruptors were found to be significantly higher in autistic group (p=0.000). Conclusion The finding of significantly higher serum MEHP, DEHP and BPA levels in autistic group compared to controls suggests that endocrine disruptors may have role in the pathogenesis of ASDs.

Background: Isolated premature thelarche is the breast development in the absence of other secondary sex characteristics in prepubertal girls. Fennel is a plant which contains a phytoestrogen called anethole as an active ingredient., Abstract Background: Isolated premature thelarche is the breast development in the absence of other secondary sex characteristics in prepubertal girls. Fennel is a plant which contains a phytoestrogen called anethole as an active ingredient. Case: Here, we report a case of a 12-month-old girl who showed breast development that became apparent in the last 3 months. Her medical history revealed that she was given two to three teaspoons of fennel tea by her mother every day for restlessness for the last 6 months. Isolated premature thelarche was diagnosed based on physical and laboratory findings. On follow-up, after cessation of fennel consumption, the breast development of the patient regressed gradually and became normal by the end of 1 year. Conclusion: Reporting this case, we want to emphasize the importance of awareness of fennel tea, a commonly used plant in babies, as a preventable cause of premature thelarche. Keywords: fennel tea; isolated premature thelarche; phytoestrogen. *Corresponding author: Deniz Okdemir, Faculty of Medicine

BackgroundPseudohypoaldosteronism type 1 (PHA1) is a monogenic disease caused by mutations in the genes encoding the human mineralocorticoid receptor (MR) or the α (SCNN1A), β (SCNN1B) or γ (SCNN1G) subunit of the epithelial Na+ channel (ENaC). While autosomal dominant mutation of the MR cause renal PHA1, autosomal recessive mutations of the ENaC lead to systemic PHA1. In the latter, affected children suffer from neonatal onset of multi-organ salt loss and often exhibit cystic fibrosis-like pulmonary symptoms.ObjectiveWe searched for underlying mutations in seven unrelated children with systemic PHA1, all offsprings of healthy consanguineous parents.Methods and resultsAmplification of the SCNN1A gene and sequencing of all 13 coding exons unraveled mutations in all of our patients. We found five novel homozygous mutations (c.587_588insC in two patients, c.1342_1343insTACA, c.742delG, c.189C>A, c.1361-2A>G) and one known mutation (c.1474C>T) leading to truncation of the αENaC protein. All parents were asymptomatic heterozygous carriers of the respective mutations, confirming the autosomal recessive mode of inheritance. Five out of seven patients exhibited pulmonary symptoms in the neonatal period.ConclusionThe α subunit is essential for ENaC function and mutations truncating the pore-forming part of the protein leading to systemic PHA1. Based on current knowledge, the pulmonary phenotype cannot be satisfactorily predicted.

Iodine deficiency is the most devastating event in developing brain in the fetus and neonate. Iodine is absolutely necessary on the myelination, neuronal differentiation, and formation of neural processes, synaptogenesis, and neuronal migration by thyroidal hormones throughout pregnancy and shortly after birth. Neural tube defects (NTD) form after third and fourth gestational weeks and their etiologies are multifactorial.We herein present a male newborn with iodine deficiency and thoracic neuroenteric cyst bound to a myelomeningocele via a pedinculi. We hypothesize that iodine deficiency may be a cause of NTD, and iodine supplementation in preconception and pregnancy may prevent NTD.

Rett syndrome (RS) is a neurodevelopmental disorder mainly affecting girls. It is characterized by a normal prenatal and perinatal period, apparently normal development for the first 6 months of life, and then a decelaration in head growth, loss of hand and communication skills, psycho motor retardation, as well as the development of sterotyped hand movement and truncal or gait apraxia. It has been shown to be related to mutations in the MECP2 gene located on Xq28. Diabetes mellitus (DM) type 1 may be associated with certain genetic disorders such as Down syndrome, Turner syndrome, and Klinefelter syndrome. In this work, we report the case of a 9-year-old girl with RS who developed DM at the age of 6. To our knowledge, our patient is the third case reported to date of DM associated with Rett syndrome.

Background Obesity in children increases the risk of atherosclerosis. Endothelial dysfunction is an important factor in the pathogenesis of atherosclerosis, and endothelial microparticles (EMPs) are considered as markers of endothelial dysfunction. In this study, we aimed to evaluate circulating EMPs in obese and overweight children and to disclose the measure of obesity with the strongest relation with circulating microparticles and carotid atherosclerosis. Methods This prospective study included 55 obese and overweight children and 23 healthy controls. Insulin resistance was studied. Both in vivo and in vitro human umbilical vein endothelial cell evaluations were used for the study. Circulating EMPs (CD144 and CD146) were measured by flow cytometry. The carotid artery intima-media thickness (cIMT) and left ventricular mass index (LVMI) were measured using ultrasound and echocardiography, respectively. Study groups were compared for anthropometric measurement, insulin resistance, circulating EMP, cIMT, and LVMI. The relationship among overweight, obesity, and circulating EMPs were investigated. Results Blood pressure, CD144+EMP levels, and LVMI were statistically higher in the patients group than in the control group. The multiple logistic regression analysis and the backward elimination method showed that CD144+EMP and systolic blood pressure had a linear relationship with overweight and obesity. Conclusion Our results suggest that endothelial damage starts in the early stage of childhood obesity and that obese and overweight children have increased circulating CD144+EMPs, showing that endothelial dysfunction and increased CD144+EMPs may be related to obesity.

Radioactive iodine (RAI) is used effectively in the treatment of hyperthyroidism and thyroid cancer, but it is contraindicated during pregnancy. RAI treatment during pregnancy can lead to fetal hypothyroidism, mental retardation and increased malignancy risk in the infant. Pregnancy tests must be performed before treatment in all women of reproductive age. However, at times, RAI is being used before ruling out pregnancy. We herein present a male newborn infant with congenital hypothyroidism whose mother was given a three-week course of methimazole therapy for her multiple hyperactive nodules and subsequently received 20 mCi RAI during the 12th week of her pregnancy. The patient was referred to our neonatology unit at age two weeks when his thyrotropin (TSH) level was reported to be high in the neonatal screening test. Physical examination was normal. Laboratory investigations revealed hypothyroidism (free triiodothyronine 1.55 pg/mL, free thyroxine 2.9 pg/mL, TSH 452 mU/L, thyroglobulin 20.1 ng/mL). The thyroid gland could not be visualized by ultrasonography. L-thyroxine treatment was initiated. Conflict of interest:None declared.

Subcutaneous fat necrosis of the newborn (ScFN) is an uncommon condition of neonates and infants. The disorder is caused by generalized and local tissue hypoperfusion. The ScFN tends to improve spontaneously with or without some severe complications such as hypercalcemia. The ScFN may occur as iatrogenic after hypothermic surgical interventions. We present iatrogenic ScFN in a newborn with uncomplicated hypercalcemia due to cold exposure on operating table during at an umbilical cord hernia operation. To our knowledge, this is the first report of a patient in whom ScFN occurred during a commonly performed and relatively short-term "nonhypothermic" operation.

Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes. A pair of female twins were admitted to our neonatology unit 16 hours after delivery. They were born at 35 weeks of gestation. Both twins had an unusual dysmorphic facial appearance with microcephaly, as well as broad short thumbs and large toes. Based on the presence of characteristic dysmorphic features, the twins were diagnosed as RSTS. Thyroid function tests in the first twin revealed the following results: free thyroxine (T4) 8.4 pg/mL, thyrotropin (TSH) 4.62 mIU/L, thyroglobulin (TG) 213.24 ng/mL and a normal level of urinary iodine excretion (UIE). Thyroid function test results in the second twin in the second week were: free T4 5.9 pg/mL, TSH 9.02 mIU/L, TG 204.87 ng/mL, and normal UIE levels. Thyroid volumes were 0.36 mL and 0.31 mL in the first and second twin, respectively. TH was confirmed by technetium 99 m pertechnetate thyroid scans in both infants. Thyroid function tests normalized with L-thyroxine replacement therapy (10 μg/kg/day) around the end of the 3rd week of life. The infants were discharged planning their follow-up by both endocrinology and cardiology units. The rarity of cases of twins with RSTS (concordant) co-existing with CH led us to present this report. Conflict of interest:None declared.

Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. Whether the deafness in TRMA syndrome can be prevented is not yet known. Here, we report a four-month-old female infant diagnosed with TRMA syndrome at an early age. There was no hearing loss at the time of diagnosis. The patient’s initial auditory evoked brainstem response measurements were normal. Although she was given thiamine supplementation regularly following the diagnosis, the patient developed moderate sensorineural hearing loss at 20 months of age, indicating that early diagnosis and treatment with oral thiamine (100 mg/day) could not prevent deafness in TRMA syndrome. It would be premature to draw general conclusions from one case, but we believe that further patient-based observations can shed light on the pathophysiology of this rare syndrome as well as prediction of its prognosis. Conflict of interest:None declared.

Hypocalcemia and hyperphosphatemia with low/normal parathyroid hormone (PTH) levels can be observed in hypoparathyroidism (HP), a disorder that may follow an autosomal dominant (AD) or autosomal recessive (AR) mode of inheritance. Similar biochemical changes are also observed in pseudohypoparathyroidism (PHP) type Ia and Ib, but affected patients usually show elevated PTH levels indicative of hormonal resistance. Features of Albright's hereditary osteodystrophy (AHO) are typically not observed in patients affected by familial forms of PHP-Ib, which are most frequently caused by maternally inherited, heterozygous microdeletions within STX16 and are associated with isolated loss of methylation at GNAS exon A/B.We established the molecular defect in two children of consanguineous Turkish parents, who presented with hypocalcemia, hyperphosphatemia, and low 25-OH vitamin D levels, but initially normal or only mildly elevated PTH levels, i.e. findings that do not readily exclude HP. After normalizing serum magnesium levels, hypocalcemia and hyperphosphatemia persisted, and PTH levels increased, suggesting PTH resistance rather than PTH deficiency. Because of the absence of AHO and parental consanguinity, an AR form of PHP-Ib appeared plausible, which had previously been suggested for sporadic cases. However, loss of GNAS methylation was restricted to exon A/B, which led to the identification of the 3-kb STX16 microdeletion. The same mutation was also detected in the healthy mother, who did not show any GNAS methylation abnormality, indicating that her deletion resides on the paternal allele.Our findings emphasize the importance of considering a parentally imprinted, AD disorder even if consanguinity suggests an AR mode of inheritance.

Objective: Neonatal ovarian cysts (NOC) are usually self-limiting structures. However, large or complex cysts may lead to severe complications. A standard guide to management, treatment and follow-up of NOC is not yet available. The aim of this study was to evaluate retrospectively the records of NOC patients from two medical centers. Methods: A total of 20 newborns with NOC were included in the study. The size and localization of the cyst, the age, the signs and symptoms at presentation, and the possible maternal and fetal-neonatal etiologic factors were recorded. Follow-up procedures and treatment modalities were evaluated. Results: The mean age at diagnosis was 34 gestational weeks. The cysts (mean size 53±15 mm) were predominantly in the right ovary (75%) and were evaluated as large cysts in 16 (80%) of the patients. In 5 of the patients with large cysts and in 1 of the 4 patients with small cysts, the cysts were evaluated as complex cysts. Torsion of the ovary was detected in five (25%) cases and these cases were treated surgically. Patients with simple cysts were closely followed by ultrasonography until the cysts disappeared. Conclusion: To date, there is no precise guide for the monitoring and treatment of NOCs. Surgical treatment should always be performed in a way to protect the ovaries and to ensure future fertility. In our NOC series, it has been possible to apply a non-invasive follow-up program and minimally invasive surgical procedures. Conflict of interest:None declared.