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Objective: Using World Health Organization (WHO) standards in pediatric practice is still controversial in many countries. It is suggested that national growth charts best reflect the genetic and ethnic characteristics of a population. The aim of this study was to compare length/height, body weight, and body mass index (BMI) in healthy Turkish children of ages 0 to 18 with those proposed by WHO as the international growth standards., Methods: The data of Turkish children were collected from infant/child population aged 0-5 years (2391 boys, 2102 girls) and children of ages between 6-18 years (1100 boys, 1020 girls). For comparison, the 50 th , 3 rd , and 97 th percentile curves for length/height, weight, and BMI in Turkish children were plotted together with respective WHO data., Results: Heights were essentially similar in the Turkish and WHO data at ages between 3-10 years. Turkish children were markedly taller compared to the WHO standards after the age of 10 years. Evaluation of the 3rd percentile data revealed that Turkish boys were shorter than the WHO subjects in the first 2 years of life. From 6 months of age, Turkish children showed higher weight for age values in the 3 rd , 50 th , and 97 th percentiles. In all age groups between 6 months and 3 years, and in between 6-18 years of age, Z-score values, as well as the 50 th , 15 th , 85 th , and 95 th percentile values were higher in Turkish children. The differences were particularly noteworthy at ages 1-2 years and in the pubertal years., Conclusion: WHO growth standards do not reflect the growth of Turkish children and may substantially alter the prevalence of short stature and underweight in Turkish children in the 0-5 years age group. When assessing the nutritional and growth status of children, national growth standards may be more appropriate.

Objective: This study aimed to integrate the existing updated reference standards for the growth of Turkish infants and children and to compare these values with World Health Organization (WHO) reference data, data from some European countries, and also with previous local data. Weight, height, and head circumference measurements were obtained on 2,391 boys and 2,102 girls who were regular attenders of a well child clinic and on 1,100 boys and 1,020 girls attending schools in relatively well-off districts in İstanbul. Mean number of measurements per child was 8.2±3.6 in the age group 0-5 years and 5.5±3.3 in the age group 6-18 years. All children were from well-to-do families and all were healthy. All measurements with the exception of measurements at birth, which were based on reported values, were done by trained personnel., Methods: The LMS method was used in the analyses and in the construction of the percentile charts. There is an increase in weight for age and body mass index values for age starting in prepubertal ages, indicating an increasing trend for obesity., Results: Compared to WHO reference data, weight and height values in Turkish children were slightly higher in infants and in children younger than 5 years, while they showed similarity to those reported for children from Norway and Belgium. Head circumference values, which were slightly higher than the WHO references in the first 5 years, were comparable to the data on Belgian and Norwegian children in the first 9 years of life. At older ages, Turkish children showed higher values for head circumference., Conclusion: The relatively larger head circumference values were interpreted to reflect a genetic characteristic.

Objective: To evaluate the epidemiologic, clinical and laboratory characteristics of a group of children with type 1 diabetes mellitus (T1DM) living in a Turkish city., Methods: The records of 395 (boys/girls: 199/196) children with newly diagnosed T1DM hospitalized in the years 1985-2004 were evaluated retrospectively. The data were assessed by gender and age subgroups (≤5, 6-10 and ≥11 years)., Results: Mean age of children at diagnosis was 8.1±4.1 years. At T1DM onset, the number of children ≤5, between 6-10 and ≥11 years old was 110 (27.9%), 147 (37.2%) and 138 (34.9%), respectively. The patients were mostly diagnosed at ages 6-8 years (24.1%), followed by cases aged 3-5 years (22.0%). Polyuria and polydipsia were the most common symptoms (94.7%). Mean duration of symptoms was 21.5±18.6 days. Although the patients mostly presented in autumn (30.7%), no season-related significant differences were found. The frequency of ketoacidosis was relatively high (48.5%). When compared to boys, the girls experienced higher rates of ketoacidosis (55.1% vs. 41.7%, p=0.042); had a higher frequency of anti-thyroid peroxidase antibodies (11.7% vs. 4.2%, p=0.049) and higher insulin requirement (0.89±0.41 vs. 0.77±0.36 IU/kg, p=0.005). Cases with a family history of T1DM were more likely to have anti-endomysial antibodies (42.9% vs. 8.1%, p=0.027) and higher initial blood glucose levels (510.5±145.0 vs. 436.1±156.5 mg/dL, p=0.005)., Conclusion: The findings possibly indicate a decreasing age of T1DM onset. The high frequency of ketoacidosis at presentation is noteworthy. Girls had higher rates of ketoacidosis, higher frequency of anti-thyroid antibodies and higher insulin requirements as compared to boys. Patients with a family history of T1DM had higher initial glucose levels and higher frequency of anti-endomysial antibodies.

Unlabelled: Sitting height (SHt) measurements and sitting height/height (SHt/Ht) ratio are important criteria in the diagnosis of growth problems and particularly in the diagnosis of dysproportionate growth. It is known that body proportions are related to genetic influences and show variations among different populations. This study aimed to provide reference data on SHt and SHt/Ht ratios for Turkish children of ages 6-18 years. SHt measurements were performed on a sample of 1,100 boys and 1,020 girls between 6 and 18 years of age attending primary and secondary schools located in six different districts of Istanbul city. Criteria advanced by WHO for establishing reference standards for growth were observed in the study design. The sample consisted of a mixture of children measured only once and those measured at follow-up over different periods of time. Parallel to increase in Ht, SHt increased with age. Mean value for SHt/Ht ratio was 55-56% at ages 6 to 8.5 years in both sexes. In girls, this value started to decrease at age 11.5 years and remained between 53% and 54% thereafter. In the boys, a decrease to 52-53% was noted in the SHt/Ht ratio after age 12 years. In both sexes, SHt/Ht ratio decreased with puberty, demonstrating that growth in trunk length exceeded growth in limb length in midpubertal ages. These changes occurred at an earlier age in the girls. Values obtained for SHt/Ht ratios in Turkish children were high as compared to Dutch children and low as compared to Chinese children., Conclusion: This study, by providing reference data on sitting height and sitting height/height ratios in Turkish children of ages between 6 and 18 years, will be useful in the diagnosis and follow-up of children with growth problems. This study also supports the view that body proportions are influenced by genetic makeup.

Objective: Standard deviation score or Z-score reference charts are used in some countries in preference to percentile charts and are considered as better tools in assessing children with measurements outside the accepted limits of normality. Growth data for Istanbul children have previously been reported as percentiles; hence, the aim of this study is to present these data in Z-score reference tables. Data on secular trend in height in Turkish children will also be presented., Methods: Height and weight data based on a total of 11 664 height and 11 655 weight measurements in 1100 boys and 1020 girls between 6 and 18 years of age obtained by biannual visits to schools were analyzed. All children came from well-to-do families and were all healthy. All measurements were made by two trained technicians. The LMS method was used in the analyses. The results were expressed as Z-score values for age., Results: Heights of the boys and girls in all age groups were close to the updated USA growth references and showed an upward trend from previous data on Turkish children., Conclusions: Height growth in Turkish school-age children of high socioeconomic level conforms to the updated growth data for USA children and also shows a secular trend. The data also point to the importance of updating local growth data periodically.

We aimed to determine whether precocious adrenarche (PA) has a different impact on screening tests for metabolic issues and pubertal timing in boys and girls born appropriate for gestational age (AGA). Puberty and initial metabolic screening results of 47 girls and 23 boys with PA born AGA followed up from our outpatient endocrinology clinic between May 2000 and October 2009 were reviewed. Initial anthropometric measurements except for body mass index standard deviation score (SDS) being higher in boys than girls (p = 0.01), bone age (BA) SDS, homeostasis model assessment of insulin resistance, and plasma lipids were similar between sexes. Hormone levels except for significantly higher dehydroepiandrosterone sulfate levels in boys than girls (p = 0.0006) were also similar between the sexes. BA SDS and BA/chronological age were significantly advanced (p < 0.05) with respect to initial evaluation in 28 girls at onset of gonadarche unlike the case in 13 boys with PA (p > 0.05). In conclusions, PA in children born AGA does not herald any significant differences with respect to adverse metabolic screening results between sexes, and it appears to be a discrete process from onset of puberty in girls unlike boys, in whom it is likely a variant of normal puberty.

Objective: Premature thelarche (PT) refers to isolated onset of thelarche in girls younger than 8 years of age. Most cases have an onset under 2 years of age. We aimed to establish whether the onset of thelarche under 2 years of age certifies a transient clinical course, as suggested by several authors., Methods: Sixty-seven girls with an onset of PT under 2 years of age were classified as having early puberty (EP) or classical PT after one year of follow-up. Progression of pubertal findings or absolute growth velocity (GV) standard deviation score (SDS) above 1 SDS constituted the criteria for a diagnosis of EP., Results: Twenty (29.1%) girls were classified as having EP and 47 (70.1%) girls as having classical PT. Basal serum luteinizing hormone (LH; ICMA) values at a cut-off level of 0.3 IU/L were found to be a significant risk factor for having an atypical course [OR=7.8; CI (95%): 2.04-30.4, p=0.003]., Conclusions: Onset of thelarche under 2 years of age does not assure a transient course in a remarkable proportion of girls with PT. An absolute GV value of >1 SDS or a basal LH level ≥0.3 IU/L are suggested as indicators for close follow-up.

Permanent neonatal diabetes mellitus (PNDM) is a rare condition presenting before six months of age. Mutations in the genes encoding the ATP-sensitive potassium (KATP) channel are the most common causes. Sulfonylurea (SU) therapy leads to dramatic improvement in diabetes control and quality of life in most patients who carry these mutations. Here, we report the long-term follow-up results of two siblings with PNDM who were treated with insulin until ABCC8 gene mutation was identified, and were successfully transferred to oral SU therapy. After 3.5 years of follow-up on SU, one patient had a very good response, while the other one had a poor response. Bad compliance to diet was thought to be the most probable reason for poor glycemic control in this patient. In conclusion, molecular genetic diagnosis in all patients with PNDM is recommended. Compliance to treatment should be an important aspect of the follow-up of these patients.

It is known that type 1 diabetes mellitus (type 1 DM) may be associated with other autoimmune diseases. Recently, a patient with an association of type 1 DM and familial Mediterranean fever (FMF) was reported in the medical literature. A 10.5-year-old boy was brought to our clinic with complaints of polydipsia, polyuria and weight loss and was diagnosed as diabetic ketoacidosis due to autoimmune type 1 DM. Insulin therapy was started. Elevated thyroid antibodies associated with diffuse goiter and hypothyroidism led to the diagnosis of autoimmune thyroid disease (ATD), and elevated antiendomysial antibodies and abnormal intestinal biopsy findings led to the diagnosis of celiac disease (CD). L-thyroxine therapy and gluten-free diet were initiated accordingly. At the third-year of follow-up, acute attacks of fever, abdominal pain and chest pain developed. Laboratory investigations, which were normal between the attacks, revealed elevated erythrocyte sedimentation rate, fibrinogen, white blood cell count and pleural effusion on chest X-ray during the attacks. Molecular analysis for FMF revealed compound heterozygous M694I and V726A. The patient responded well to colchicine therapy started at a dose of 1.5 mg/day. We present the second patient with type 1 DM associated with FMF who also had ATD and CD.

Background: Congenital adrenal hyperplasia (CAH) due 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene., Objective: Our aim was to determine the frequency of common gene mutations and to evaluate genotype-phenotype correlations in Turkish 21-OHD patients., Methods: Molecular analysis of the CYP21A2 gene was performed for the detection of the eight most common point mutations [p.P30L, IVS2-13C>G (IVS-2), p.I172N, exon 6 mutation cluster (p.I236N, p.V237E, p.M239K), p.V281L, p.Q318X, p.R356W, 8-bp-deletion], of large deletion and conversion by southern blotting, allele specific semi-quantitative PCR/enzyme restriction method and sequencing, in 56 patients with 21-OHD, from 52 families., Results: Disease-causing mutations were identified in 77 out of 91 alleles (84.6%) of the patients. Mutations were found in 34 of 43 alleles (79.1%) in salt wasting (SW; n=26), 32 of 36 alleles (88.8%) in simple virilizing (SV; n=24) and 11 of 12 alleles (91.6%) in non-classical (NC; n=6) form of CAH. The most frequent mutations were IVS-2 (22.0%), large conversion (14.3%), p.I172N (9.9%) p.R356W (8.8%), and large deletion (6.6%). In the SW form, the most frequent genotypes were homozygous for IVS-2 (11.5%) and homozygous for large conversion of the gene (11.5%). In the SV form, the most frequent genotype was homozygous for IVS-2 (20%), followed by compound heterozygous for p.I172N/8-bp del (10%). Homozygous for p.V281L (16.7%) was most common in NC. In most cases there was good correlation between genotype and phenotype. In the SW and NC forms, genotypes of all the patients correlated with their phenotypes., Conclusions: This is the first comprehensive study on the molecular basis of CAH patients in the Turkish population. Based on these results, we propose a modified screening strategy to facilitate molecular testing of CAH patients in our population.

22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech development due to velofacial dysfunction, recurrent croup attacks in early childhood due to latent hypocalcemia and mild dysmorphic features. The findings of this patient indicate that 22q11 deletion syndrome may present with a wide spectrum of clinical findings and that this diagnosis needs to be considered even in patients of older ages presenting with hypocalcemia.

Spontaneous adult height (AH) in Turner syndrome (TS) varies among populations. Population-specific AH data is essential to assess the efficacy of growth-promoting therapies in TS. A multicenter study was performed to establish AH of nongrowth hormone (GH)-treated Turkish patients with TS. One hundred ten patients with TS (diagnosed by karyotype) who reached AH (no growth in the previous year, or bone age > 15 years) without receiving GH treatment were included in the study. The average AH was found to be 141.6 +/- 7.0 cm at the age of 22.9 +/- 6.2 years, which is 18.4 cm below the population average and 16.4 cm below the patients' mid-parental heights. Bone age at start of estrogen replacement was 12.3 +/- 1.3 year. Karyotype distribution of the patients was 45X (43%), 45X/46XX (16%), 45X/46Xi (12%), 45XiXq (10%) and others (19%). When the patients were evaluated according to their karyotype as 45X and non-45X, no significant difference in AH was observed (142.4 +/- 6.9 cm vs 140.9 +/- 7.1 cm, respectively). Adult height of non-GH-treated Turkish TS patients obtained in this study was comparable to that of other Mediterranean populations, but shorter than that of Northern European patients. Karyotype does not seem to affect AH in TS.

The aim of this study was to analyze head circumference (HC) growth retrospectively in longitudinally followed growth hormone (GH)-deficient children on GH therapy. Data of 54 (25 F, 29 M) children with GH deficiency were analyzed by dividing the children into two groups: Group 1 with height age (HA) < or =5 years (yrs) (n:18) and Group 2 with HA >5 yrs (n:36). Anthropometric measurements were expressed as standard deviation score (SDS) for chronological age (CA), and HC was also expressed as SDS for CA and HA. Group 1, with CA 6.6 (2.9) yrs at onset of therapy, showed an increase in height SDS from -3.8 (1.4) to -2.4 (1.7) (p < 0.001) and in HC SDS for CA from -1.9 (1.5) to -1.3 (1.6) (p < 0.05) on 4.8 (3.5) yrs of therapy. Group 2, with CA 12.6(2.2) yrs, increased height SDS from -3.4 (1.3) to -2.5 (1.4) (p < 0.001) and HC SDS for CA from -1.2 (1.3) to -1.4(1.2) (NS). HC SDS for HA was -0.4(1.3) in Group 1 and -0.2 (1.1) in Group 2 and showed no significant change. When analyzed by quartiles for cumulative dose of GH, HC SDS for HA became 0.08(1.2) in the fourth dosage quartile (p = 0.043), not significantly different from the mean. HC is disproportionately small for age but normal for the height. GH treatment results in an increase in HC of the children towards normalization in younger children. An increase in cumulative GH dose is associated with an increase in HC, but this is not inappropriate.

Lipoid proteinosis (LP) is a rare disorder and it can affect every organ in the body. The clinical manifestations of LP may vary considerably between affected individuals. Short stature is reported in patients with LP however the underlying etiology is not clear. Short stature may be due to endocrine dysfunction caused by deposition of hyaline-like material in endocrine glands. We investigated a 13 year old patient with LP (507 delT mutation) who had severe short stature. He had hoarseness since the age of one year, followed by characteristic skin lesions for LP and short stature. There was no pathology with respect to endocrinological investigations in our patient including growth hormone-IGF axis. Our results show that short stature in LP can not be explained by endocrinological abnormalities. Short stature may be an intrinsic component of the syndrome.

Background: Assessment of pubertal stages should be related to updated and reliable referance data from the same background population., Objective: The aim of this study was to provide normative data for the onset and tempo of puberty in Turkish girls and analyze the growth parameters in puberty., Methods: The analyses are based on data that were collected and evaluated biannually on 1020 Turkish school children aged 8-18 years and a subsample of 101 girls who had reached final height (FH). The data were analyzed cross-sectionally in the total group and longitudinally in the subsample., Results: Mean age and height (Ht) at onset of puberty were 10.1 ± 1.0 years and 141.7 ± 7.6 cm, respectively. Peak height velocity (HtV) was 8.5 ± 1.0 cm/year. Total pubertal height gain was 16.0 ± 3.9 cm. The duration of puberty was 4.9 ± 1.2 years. Age at menarche was 12.2 ± 0.9 years. Height at onset of puberty was positively correlated with FH (p < 0.0001). Body size (weight and height) at onset of puberty and weight and height velocity before the year of onset of puberty correlated negatively with age at onset of puberty (p < 0.05)., Conclusion: In conclusion, these results provide normative data for pubertal stages and growth parameters in girls in puberty. Height at onset of puberty is the most important determinant of FH. There is no secular trend for the onset of puberty. Weight does seem to affect the onset of puberty but not FH.

Aim: There is an increasing trend in the prevalence of type 2 diabetes mellitus (DM2) in childhood and adolescence, while positive family history of DM2 and obesity are the most important risk factors. To study the influence of family history and obesity on glucose intolerance in our country was the aim of this study., Study Design and Methods: A total of 105 children and adolescents aged 10-18 years (mean 13.3 +/- 2.5 years) were included in the study. All children and adolescents were divided into three groups according to positive family history of DM2 and obesity, and an oral glucose tolerance test (OGTT) was performed for all. Prediabetes was defined as impaired glucose tolerance (IGT) and/or impaired fasting glucose (IFG). Insulin secretion and insulin resistance were estimated using the insulinogenic index; and the homeostatic model assessment for insulin resistance (HOMA-IR) and Matsuda index, respectively., Results: The prevalence of prediabetes was 15.2% in the whole group, while it was 25.5% in obese children who also had a positive family history of DM2. The frequency of hyperinsulinism was 57.1% in all groups. Prediabetic children had significant insulin resistance (HOMA-IR 11.5 +/- 7.1 and 4.1 +/- 6.4, respectively, p = 0.034)., Conclusions: Obesity and glucose intolerance are also a problem in developing countries. The risk of prediabetes in children is highest in obese children who also have a positive family history of DM2. There is a need for a lifelong preventive program starting in childhood to avoid DM2 and decrease cardiovascular risk factors

Worster-Drought syndrome (WDS) (congenital bilateral perisylvian syndrome, congenital pseudobulbar paresia) is characterized by neuronal migration defect, pseudobulbar paralysis, epilepsy, neuromotor retardation and perisylvian dysplasia. We report a patient with WDS associated with posterior pituitary ectopia, pituitary hypoplasia, partial empty sella and panhypopituitarism, not previously reported in the literature. The 16.4 year-old female patient had severe growth retardation with height SDS -4.5, delayed puberty, microcephaly, pes equinovarus deformity, developmental delay, speech disorder and epilepsy. Laboratory findings, which revealed abnormal electroencephalography and bilateral perisylvian cortical dysplasia on cranial magnetic resonance imaging (MRI) were consistent with WDS. Endocrinological evaluation revealed secondary hypothyroidism and combined deficiency of adrenocorticotropin, gonadotropin and growth hormone (GH). Sella MRI showed congenital empty sella, anterior pituitary hypoplasia, ectopic neurohypophysis, and stalk agenesis. Appropriate replacement therapy was started. GH treatment resulted in a final height of 150.3 cm, appropriate for her target height. This is the first reported patient with WDS associated with congenital structural hypothalamic-pituitary abnormalities, including empty sella, pituitary hypoplasia, posterior pituitary ectopia, stalk agenesis and panhypopituitarism. GH has been successful in the treatment of her short stature.

This retrospective study evaluated clinical characteristics of patients with constitutional delay of growth and puberty (CDGP) at presentation, during puberty and at final height. The records of 151 children (105 boys, 46 girls) with CDGP were reviewed and the results were evaluated with respect to findings in healthy Turkish schoolchildren. CDGP was twice as frequent in boys as in girls. Height and weight deficit and short sitting height of the children were evident at presentation and continued up to final height. Mean age of onset of puberty was retarded by 2.5 years in girls and by 3 years in boys. The time between onset of puberty and pubertal growth spurt was shorter in both girls and boys than in the controls. Peak growth velocity was compromised in both girls and boys. Forty-one patients (30 boys, 11 girls) reached final height (FH). Mean FH was shorter than both target height and predicted adult height. The Bayley-Pinneau method was found to be a better predictor of FH than either the Tanner-Whitehouse method or target height. FH also showed correlation with the father's height. There was no effect of testosterone treatment on final height. Height deficit at onset of puberty, shorter duration between onset of puberty and pubertal growth spurt, compromised peak growth velocity and short upper segment due to delayed puberty, are findings which may explain the decreased final height of children with CDGP.

Increase in serum androgen levels results in suppression of serum leptin levels. In this study, the changes in serum leptin concentrations of children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) with respect to their hyperandrogenism were investigated. Eleven children with 21-OHD and 25 healthy control children were included in the study. Before initiation of hydrocortisone, serum leptin levels in children with CAH were lower (1.7 +/- 1.3 ng/ml) than in the control group (5.3 +/- 4.01 ng/ml) (p<0.001). After three months of treatment, serum leptin levels increased to the normal range (7.1 +/- 2.9 ng/ml). Prior to and on hydrocortisone treatment in CAH, serum leptin levels were positively correlated with cortisol (r:0.78, p:0.004 and r:0.80, p:0.003) but negatively correlated with testosterone (r:-0.62, p:0.04 and r:-0.65, p:0.002). These results suggest that serum leptin measurements may be used as an additional parameter in the follow-up of children with CAH to evaluate the efficacy of hydrocortisone treatment with respect to androgenemia.

Growth hormone (GH) treatment has been used in children with intrauterine growth retardation (IUGR) to promote growth with success in several short- and long-term clinical trials. Intermittent GH therapy has also been advocated in children with IUGR. This study was designed to evaluate the growth of children with IUGR after discontinuation of a two-year trial of GH treatment. Sixteen children (12 F, 4 M) who had received GH (Genotropin) at age 5.3 (1.3) years at a dose of 0.2 IU/kg/day for 2 years (Group 1) and 10 (6 F, 4 M) controls of age 4.3 (1.7) years without treatment (Group 2) were followed after completion of the trial over a median period of 4 years. Height SDS of the GH-treated group showed an increase from -3.0 (0.5) to -1.9 (0.7) (p <0.001) over 2 years of therapy. Off therapy, height SDS decreased to -3.5 (0.5) at a mean age of 11.2 (1.6) years. The difference between the initial and recent height SDS in this group was significantly different (p = 0.02). Height SDS of the control group, -2.7 (1.4) initially, did not change over the two-year observation period. At follow-up, seven control children received GH in a similar fashion for one year. In spite of an insignificant increase in height SDS on one year of GH, it decreased to -2.9 (1.6) at age 11.0 (2.1) years at the latest visit. There was no significant difference between the recent heights of the two groups at final examination. One girl in Group 1 developed acanthosis nigricans and type 2 diabetes mellitus at age 13.3 years, after the follow-up period. A second patient developed osteosarcoma in the left tibia at age 9.9 years, for which she received chemotherapy and surgery. In conclusion, height SDS showed a significant increase on GH therapy for 2 years in children with IUGR; however, it decelerated after discontinuation of therapy. At the final visit, GH therapy did not seem to have had any effect on height prognosis. This finding shows that GH should be given continuously to improve final height in children with IUGR.

Background: Growth hormone (GH) in combination with conventional therapy in hypophosphatemic rickets (HR) has been shown to promote renal phosphate (P) conservation and to result in a better metabolic control. This study aimed at investigating the acute biochemical effects of GH in 7 patients (5 female, 2 male) with HR aged between 2.16 and 16 years., Methods: Each patient received the following in a sequential design: oral P plus 1,25-dihydroxyvitamin D(3) [1,25-(OH)(2)D(3)] therapy to determine the optimum doses for baseline requirement followed by GH-only therapy and GH +1,25-(OH)(2)D(3) therapy and GH + P +1,25-(OH)(2)D(3) therapy each for 2 weeks with 1 washout week off treatment in between. GH was given at a dose of 0.03 mg/kg/day s.c. on a daily basis. The dose of oral P used ranged between 500 and 2,000 mg/day, and the dose of 1,25-(OH)(2)D(3) ranged between 0.25 and 0.5 microg/day and was kept constant for each child throughout the study., Results: Laboratory investigations repeated at the end of each treatment, and the first washout period showed that the serum P level was highest (2.9 ng/ml) during the GH + P + 1,25-(OH)(2)D(3) period with higher serum 1,25-(OH)(2)D(3) levels: 50.9 +/- (SD) 23.4 ng/l. Parathyroid hormone and alkaline phosphatase levels did not show a significant difference between the periods. The tubular P reabsorption rate showed an insignificant increase during GH therapy periods., Conclusion: Considering the fixed dose of P and calcitriol, it may be concluded that GH added to conventional treatment in HR resulted in a slight improvement in the biochemical parameters without any side effects at the short term., (Copyright 2001 S. Karger AG, Basel)

An 8.7 year-old patient, raised as a boy, presented with premature appearance of pubic hair and accelerated growth since 2 years of age and ambiguous genitalia noted at birth. There was first degree consanguinity between his parents. A similar problem was reported in a cousin. Examination of the external genitalia revealed complete scrotal fusion, a 5 cm long phallus, urogenital sinus at base of phallus with no gonads palpable. Pigmentation was increased. His blood pressure was 150/100 mm Hg. Pubic and axillary hair were at stage 3. Bone age was 17 years. Adrenal ultrasound was normal. Pelvic ultrasound showed relatively enlarged uterus and ovaries with normal echogenicity. Karyotype was 46,XX. Hormone profile was compatible with congenital adrenal hyperplasia (CAH) due to 11beta-hydroxylase deficiency (11-deoxycortisol: 11.5 nmol/l [400 ng/dl] [normal: 0.6-4.5 nmol/l [20-155 ng/ml]], androstenedione: 17.4 nmol/l [5 ng/ml] [normal: 0.1-1.2 nmol/l [0.03-0.35 ng/ml]]). Prednisolone and antihypertensive drugs were started. The patient underwent bilateral salpingo-oophorectomy and hysterectomy at 9.1 years. Histopathological examination of both ovaries revealed steroid cell tumor. The type of the tumor was "not otherwise specified" (NOS). Basal hormone levels and ACTH test performed 10 months after the operation and 7 days off treatment reconfirmed the diagnosis of 11beta-hydroxylase deficiency. Steroid cell tumors are extremely rare forms of steroid hormone-reducing ovarian neoplasms in childhood and may coexist with or imitate virilizing CAH.