The role of breast milk beta-endorphin and relaxin-2 on infant colic.

BACKGROUND: The relationship between infant colic and breast milk beta-endorphin (BE) and relaxin-2 (RLX-2) has not been studied before. METHODS: Thirty colic infants and their mothers constituted the study group, and the same sex, similar age and healthy infants and their mothers formed the control group. Maternal predisposing factors were analysed with questionnaires. RESULTS: The frequency of headache and myalgia in the mothers was significantly higher in the study group compared to the control group. Sleep quality of mothers in the study group was worse than in the control group (p = 0.028). While breast milk RLX-2 level in the study group was not different from the control group, breast milk BE level in the study group was significantly higher than the control group (p = 0.039). A positive correlation was found between breast milk BE levels and crying times, and between sleep quality scores and crying times. Headache, myalgia, sleep quality and breast milk BE levels were found to have a significant effect on infant colic. CONCLUSIONS: Breast milk RLX-2 has no role on infant colic. Breast milk BE may act as a biological mediator in transmitting of maternal predisposing factors such as poor sleep quality, headache and myalgia from mother to infant. IMPACT: The relationship between infant colic and breast milk beta-endorphin (BE) and elaxin-2 (RLX-2) has not been studied before. Maternal sleep quality, headache, and myalgia are predisposing factors associated with infant colic. Breast milk RLX-2 has no effect on infant colic. Breast milk BE may play a role as a biological mediator in transmitting the effects of predisposing factors from mother to infant. Breast milk BE may be a mediator in biological communication between mother and infant.

Clinical and Laboratory Findings by Serum Vitamin D Levels in Children with COVID-19.

OBJECTIVE: The studies on children with COVID-19 are very limited. The aim of this study is to reveal the effect of serum 25-hydroxy vitamin D level on clinical and laboratory parameters. MATERIALS AND METHODS: The study included 74 children (35 boys and 39 girls) diagnosed with COVID-19. The retrospective data were obtained from the file records of the patients. Seventy-four patients were divided into 3 groups (group 1, deficient; group 2, insufficient; and group 3, sufficient) according to their serum 25-hydroxy vitamin D levels. RESULTS: The mean age of all patients was 113.25 ± 64.55 months. The mean leucocyte count was substantially higher in group 3 compared to groups 1 and 2 (P = .05 and P = .002, respectively). The mean lymphocyte and platelet count in group 3 was remarkably higher than both groups 1 and 2 (P = .001 and P = .002; and P = .04 and P = .01, respectively). The mean serum parathyroid hormone concentration in group 1 was markedly higher than both groups 2 and 3 (P=.003 and P = .002, respectively) while the mean serum 25-hydroxy vitamin D level in group 1 was remarkably lower than both groups 2 and 3 (P=.001 and P=.001, respectively). Serum 25-hydroxy vitamin D concentrations were positively correlated with leucocyte, lymphocyte, and platelet counts (r=0.221, P=.05; r=0.396, P=.001; and r=0.249, P=.03, respectively) while there was a negative correlation with parathyroid hormone concentrations (r=-0,436, P=.001). CONCLUSION: This study suggests that COVID-19 has a benign course in children and that serum 25-hydroxy vitamin D concentration may have a role in the lymphocyte count.

Plasma renin, aldosterone, and urinary prostaglandin E2 levels in children with hypocalcemia due to vitamin D deficiency rickets.

We investigated the effect of hypocalcemia on plasma renin, aldosterone, and urine PGE2 levels in children with vitamin D deficiency rickets (VDDR). In the study group, 25 patients with VDDR-induced hypocalcemia were treated with a single dose of 150,000-300,000 IU cholecalciferol and 50 mg/kg/day elemental Ca for 10 days. On any day between 21th and 30th days after the treatment, the patients' clinical, biochemical and radiologic findings were re-evaluated. The healthy children with the same sex and similar age as the study group comprised the control group. Plasma sodium (Na), potassium (K), calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), parathyroid hormone (PTH), 25- hydroxy vitamin D (25OHD), renin, aldosterone; and urinary Ca, creatinine (Cr) and prostaglandin E2 (PGE2) levels were measured in both the study (pre-treatment and post-treatment) and the control group. Plasma Ca, P, 25OHD and renin levels and urinary PGE2/Cr ratio in the post-treatment group were significantly higher than those in the pre-treatment group while K, ALP, and PTH concentrations were significantly lower. Plasma ALP and PTH levels in pre-treatment group were significantly higher than in the control group while Ca, P, 25OHD, aldosterone and renin concentrations and urinary PGE2/Cr ratio were significantly lower. Post-treatment plasma Ca level was significantly decreased in normal limits compared to the control group while other biochemical parameters were not different from the control group. Plasma Ca concentration was positively correlated with renin level and urinary PGE2/Cr ratio. The findings suggest that hypocalcemia may inhibit the production of renin, aldosterone and PGE2 and a blunt aldosterone secretion may develop even after recovery from hypocalcemia.

Serum kisspeptin, leptin, neuropeptide Y, and neurokinin B levels in adolescents with polycystic ovary syndrome.

OBJECTIVES: Polycystic ovary syndrome (PCOS) is characterized by ovarian dysfunction, clinical and/or biochemical hyperandrogenism, and polycystic ovaries. Its pathogenesis is still unclear. This study aimed to investigate the relationship between kisspeptin, leptin, neuropeptide Y (NPY), and neurokinin B (NKB) levels for evaluating the pathogenesis of PCOS. METHODS: Levels of these parameters were analyzed in 20 patients with PCOS, and 16 healthy adolescents. RESULTS: Serum NPY levels were significantly higher in the obese and non-obese PCOS group (p<0.01). There was a negative correlation between the kisspeptin and the NKB levels (p<0.01) in the PCOS group but not in the control group. This negative correlation was also found in both PCOS groups (p<0.01). In the obese PCOS group, serum kisspeptin levels were significantly lower than the control and non-obese PCOS groups (p<0.05) although serum leptin and NPY levels were significantly higher in the obese PCOS group (p<0.01). CONCLUSIONS: The high NPY levels in both obese and non-obese patients with PCOS indicate that NPY plays a role in the pathogenesis independently from obesity. Significantly high leptin and low kisspeptin levels in the obese PCOS group suggested that they may be associated with obesity rather than PCOS.

The Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation in FGF23

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder. Topical sodium thiosulfate (STS) and acetazolamide can be a safe and effective treatment for patients who do not respond to conventional therapy for ectopic calcifications. We report the successful treatment of deep soft-tissue calcifications with topical STS and acetazolamide in a boy diagnosed with HFTC due to a novel homozygous mutation of FGF23.

The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A.

OBJECTIVES: Vitamin D dependent rickets type 1A (VDDR-1A) is a very rare autosomal recessive disorder caused by mutations in the CYP27B1, which encodes vitamin D 1α-hydroxylase. We report the genetics and clinical manifestations of nine patients with VDDR-1A and compare our patients to other cases with the same mutations in the literature. METHODS: The clinical presentations, clinical and laboratory findings and treatment modalities of the patients were evaluated retrospectively. RESULTS: The mean age of the patients at the time of diagnosis was 39.9 months (range: 4.5-111). At the time of diagnosis, six patients had received stoss vitamin D therapy. Clinical findings related to rickets were obvious in seven patients and unclear in two patients. Except for one case, all patients had laboratory findings of rickets. A novel variant and four previously reported mutations in CYP27B1 were identified. The mean calcitriol and elemental calcium dose were 45.5 ng/kg/day (range: 20-70) and 75.6 mg/kg/day (range: 45-125), respectively. CONCLUSIONS: We found a novel compound heterozygous mutation consisting of a reported duplication [(p.F443Pfs*24 (c.1319_1325 dup CCCACCC)] in exon 8 and a novel deletion [p.D507Efs*34 (c.1521 delC)] in exon 9. Our study suggests that the clinical manifestations and laboratory findings of the patients with VDDR1A are variable even among the patients with the same mutation.

Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b.

PURPOSE: Vitamin D-dependent rickets type 1b (VDDR1b) is a very rare autosomal recessive disorder caused by mutations in CYP2R1 that produces 25-hydroxylase. To date only five mutations in CYP2R1 have been identified. This study has reported the genetic results and the clinical characteristics of a family with VDDR1b and compared this family to the other families with VDDR1b in literature. METHODS: After two probands were diagnosed with VDDR1b, all other family members were evaluated. Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, 25-hydroxy vitamin D, and 1.25-dihydroxy vitamin D levels were measured in all family members. All individuals were evaluated radiographically, and a genetic analysis was done in all family members. The other families with VDDR1b in literature were reviewed. RESULTS: Two novel mutations [c.367 + 1G > C and p.E339Q (c.1015G > C)] were identified. The clinic and laboratory findings were strikingly different among the members of this family regardless of the mutation and the number of alleles affected. The families having different mutations in literature had also extensive variation in both the clinical and the laboratory findings. CONCLUSION: The current study further expands CYP2R1 mutation spectrum. The findings of both the current and the previous studies suggest that VDDR1b is a more complex disorder than the known autosomal recessive inheritance model and the phenotype may show an extensive variation regardless of the mutation type and the gene dosage.

Comparison of Treatment Regimens in Management of Severe Hypercalcemia Due to Vitamin D Intoxication in Children

Objective: No large study has been conducted to date to compare the effectiveness of prednisolone, alendronate and pamidronate as first-line treatment in children with hypercalcemia due to vitamin D intoxication. The aim was to perform a multicenter, retrospective study assessing clinical characteristics and treatment results. Methods: A standard questionnaire was uploaded to an online national database system to collect data on children with hypercalcemia (serum calcium level >10.5 mg/dL) due to vitamin D intoxication [serum 25-hydroxyvitamin D (25(OH)D) level >150 ng/mL] who were treated in pediatric endocrinology clinics. Results: Seventy-four children [median (range) age 1.06 (0.65-1.60) years, 45 males (61%) from 11 centers] were included. High-dose vitamin D intake was evident in 77% of the cases. At diagnosis, serum calcium, phosphorus, alkaline phosphatase, 25(OH)D and parathyroid hormone concentrations were 15±3.2 mg/dL, 5.2±1.2 mg/dL, 268±132 IU/L, 322 (236-454) ng/mL, and 5.5 (3-10.5) pg/mL, respectively. Calcium levels showed moderate correlation with 25(OH)D levels (rs=0.402, p<0.001). Patients were designated into five groups according to the initial specific treatment regimens (hydration-only, prednisolone, alendronate, pamidronate, and combination). Need for another type of specific drug treatment was higher in children who initially received prednisolone (p<0.001). Recurrence rate of hypercalcemia was significantly lower in children who were treated with pamidronate (p=0.02). Conclusion: Prednisolone is less effective in the treatment of children with severe hypercalcaemia secondary to vitamin D intoxication and timely implementation of other treatment regimens should be considered.

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1.

The osteopetroses and related sclerosing bone dysplasias can have a broad range of manifestations. Especially in the milder forms, sandwich vertebrae are an easily recognizable and reliable radiological hallmark. We report on four patients from three families presenting with sandwich vertebrae and platyspondyly. The long bone phenotypes were discordant with one patient showing modeling defects and patchy osteosclerosis, while the second displayed only metaphyseal sclerotic bands, and the third and fourth had extreme metaphyseal flaring with uniform osteosclerosis. Two of the four patients had experienced pathological fractures, two had developmental delay, but none showed cranial nerve damage, hepatosplenomegaly, or bone marrow failure. According to these clinical features the diagnoses ranged between intermediate autosomal recessive osteopetrosis and dysosteosclerosis. After exclusion of mutations in CLCN7 we performed gene panel and exome sequencing. Two novel mutations in SLC29A3 were found in the first two patients. In the third family a TCIRG1 C-terminal frameshift mutation in combination with a mutation at position +4 in intron 2 were detected. Our study adds two cases to the small group of individuals with SLC29A3 mutations diagnosed with dysosteosclerosis, and expands the phenotypic variability. The finding that intermediate autosomal recessive osteopetrosis due to TCIRG1 splice site mutations can also present with platyspondyly further increases the molecular heterogeneity of dysosteosclerosis-like sclerosing bone dysplasias.

[Evaluation of epidemiologic and clinical features of oropharyngeal tularemia patients in the Eastern Anatolia Region of Turkey]. / Dogu Anadolu Bölgesi'nden hastanemize basvuran orofarengeal tularemi olgularinin epidemiyolojik ve klinik özelliklerinin degerlendirilmesi.

Tularemia is a zoonotic infectious disease caused by Francisella tularensis. Tularemia is endemic in the northern hemisphere and is usually seen in North America, Europe and Asia. Although the ulceroglandular tularemia is the most common form in these regions, the oropharyngeal form is more prevalent in Eastern Europe, including Turkey. The disease has importance in Turkey due to its wide geographic distribution and periodic outbreaks. The aim of this study was to determine the demographic, clinical and epidemiological characteristics of oropharyngeal tularemia patients. The demographic, clinical, epidemiological and laboratory findings of 26 tularemia patients admitted to our hospital from Erzurum and 5 neighbour provinces were analyzed retrospectively. Francisella tularensis microagglutination test (MAT) was performed for all patients whose clinical symptoms were consistent with tularemia and MAT titers ≥ 1/160 were considered positive. Twenty-six oropharyngeal tularemia patients (13 males and 13 females) were included in the study. All of the patients had cervical lymphadenopathy (LAP) at least one month period. Twenty (76.9%) of the patients included in the study were living in rural areas, and 17 (65.4%) were dealing with livestock. It was determined that 9 (34.6%) of the patients used water from municipal water supply, 9 (34.6%) of the patients used water from natural water supply and 8 (30.8%) of the patients used both of the water supplies. The most common symptoms among the patients in the study were fever in 23 (88.5%) patients, sore throat in 24 (92.3%) patients, and cervical LAP in all of the patients. Thirteen (50%) of the patients were treated with streptomycin, 7 (26.9%) with doxycycline and 6 (23.1%) with gentamicin. This is the first study showing that tularemia is present in Erzincan, Agri, Igdir as well as Erzurum provinces, and it provides that the incidence has increased in this region. Tularemia diagnosis is generally underestimated due to the lack of specific symptoms. Therefore, tularemia should also be considered in patients who have complaints of sore throat and cervical LAP in non-endemic regions.

Serum vitamin D and vitamin D-binding protein levels in mother-neonate pairs during the lactation period.

BACKGROUND: To determine longitudinally the relationship between serum 25-hydroxyvitamin D (vitamin D) and vitamin D-binding protein (DBP) levels in mother-neonate pairs and evaluate the efficiency of prophylactic vitamin D on lactation days 45-60. METHODS: Mother-neonate pairs whose serum calcium (Ca), phosphorus (P), magnesium (Mg), alkaline phosphatase (ALP), and parathyroid hormone (PTH) levels were in normal ranges on postpartum/postnatal days 5-10 were classified into two groups by their serum vitamin D concentrations (Group A: < 10 ng/ml and Group B: > 20 ng/ml). Both maternal and neonatal Ca, P, Mg, ALP, and PTH concentrations in group A and B were not different. Maternal and neonatal serum DBP levels were measured in two groups. The mother-neonate pairs in both groups were given 400 IU/d vitamin D orally. The same biochemical markers in group A were remeasured on days 45-60 of the lactation period. RESULTS: In group A, the mean maternal and neonatal vitamin D levels on postpartum/postnatal days 5-10 were significantly lower and the DBP levels were significantly higher than those in group B (P = 0.000; P = 0.000 and P = 0.04; P = 0.004, respectively). On lactation days 45-60, the maternal and neonatal DBP concentrations were not different from those on postpartum/postnatal days 5-10. However, the maternal and neonatal vitamin D levels were significantly increased (P = 0.000 and P = 0.000, respectively), while the neonatal PTH concentrations were significantly decreased (P = 0.000). The maternal and neonatal vitamin D concentrations were negatively correlated with their DBP concentrations (P = 0.048 and P = 0.002, respectively). CONCLUSION: High maternal and neonatal DBP levels may lead to an incorrect low estimate of the true Vitamin D concentration. In this case, only prophylactic vitamin D (400 IU/d) is indicated for mothers and their infants.

Infantile Nephropathic Cystinosis: A Novel CTNS Mutation.

Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosis. It is characterized by findings of Fanconi's syndrome within the first year of life. Here we report two patients with INC presenting with signs of Fanconi's syndrome and describe a novel CTNS mutation.

The effect of the zinc concentration in breast milk on neonatal weight gain.

The change in breast milk zinc (Zn) concentration in a feeding period during lactation may affect neonatal weight gain. The aim of this study was to determine how to change the Zn concentrations in breast milk during a feeding period in early and late lactation periods and identify the relationship between the differences in the Zn levels in breast milk during lactation and neonatal weight gain. Breast milk was collected in the early and late lactation periods with samples being obtained before (foremilk) and after (hindmilk) a feeding period. Then, we determined the Zn concentrations in the breast milk and measured the weight of the infants before and after the same feeding period. The study was composed of 37 newborns and their mothers. During the feeding period, the Zn concentrations in both the transitional and mature milk decreased significantly. During the lactation period, the Zn levels were markedly lower in only the hindmilk. The body weights of the infants both before and after feeding in the early lactation period were negatively correlated with the delta Zn concentration in the same period, but the delta body weights in the early lactation period were positively correlated with the Zn levels in the hindmilk in the same period. In addition, body weights before feeding in the late lactation period were also positively correlated with Zn levels in hindmilk in the early lactation period. This study suggests that the Zn concentrations in both the transitional and mature milk decreased, which suggests that changes in the Zn content of breast milk during lactation might play a role in the weight gain of healthy neonates.

The Relationship Between Skinfold Thickness and Leptin, Ghrelin, Adiponectin, and Resistin Levels in Infants of Diabetic Mothers.

This study aimed to investigate the relationship between skinfold thickness and serum leptin, ghrelin, adiponectin, and resistin levels in infants of diabetic mothers. Biochemical parameters were also similar for the two groups (infants of diabetic mothers and controls) (p > 0.05). We confirmed that there was a negative correlation between birth weight and serum ghrelin level (p < 0.05) in the two groups. When it was evaluated for control newborns, a positive correlation between abdominal circumference and serum resistin level was found in the controls (p < 0.05). Our results indicate that gestational diabetes by appropriate diet or insulin treatment may be effective in the protection of fetuses of diabetic mothers from the negative effects of gestational diabetes. Ghrelin alone was negatively correlated with birth weight. This negative correlation could be potentially advantageous to infants, because a reduction in appetite might prevent excessive food intake and postnatal weight gain.

Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome.

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 < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.

The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.

Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset.

Turner syndrome and associated problems in Turkish children: a multicenter study.

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.

Plasma Kisspeptin Levels in Newborn Infants with Breast Enlargement.

OBJECTIVE: Kisspeptin levels have been reported in children with premature thelarche, precocious puberty and adolescent gynecomastia, but there are no reports on kisspeptin levels in the neonatal period. This study aimed to investigate plasma kisspeptin hormone levels in newborns with and without breast enlargement. METHODS: Plasma kisspeptin levels and other related biochemical variables were investigated in this prospective study conducted on 40 (20 girls and 20 boys) newborn infants with breast enlargement and on 40 healthy control infants (20 girls and 20 boys). Two-milliliter venous blood samples were taken in hemogram tubes with K2EDTA. Kisspeptin assays were performed using the enzyme-immunoassay method. RESULTS: Mean plasma kisspeptin levels were 0.6 ± 0.2 ng/mL in the study group and 0.5 ± 0.2 ng/mL in the control group. Plasma kisspeptin concentrations were significantly higher in the study group (p=0.039) and also showed a correlation with serum prolactin levels (p=0.006). Significant correlations were also determined between plasma kisspeptin and luteinizing hormone concentrations (p=0.05, r=0.312). CONCLUSION: The findings of this study suggest that plasma kisspeptin and serum prolactin levels may be involved in the physiopathology of breast enlargement in newborns.

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group.

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.