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Objective: Increased prevalence of celiac disease (CD) and autoimmune thyroid disorders (ATD) in patients with Type 1 diabetes mellitus (T1D) has been widely reported. Such an association may lead to adverse effects on the growth, bone metabolism and fertility, and response to therapy may become difficult. The aim of this study was to evaluate the clinical findings and HLA typing results in patients with T1D associated with CD or ATD. Methods: The association of CD and ATD was evaluated in 38 children with T1D aged 1.5−16.8 years who had been followed for 48.3±28 months. Diagnosis of CD was based on positivity for serum endomysial IgA antibody and histopathological findings of intestinal biopsy specimens. Thyroid autoimmunity was assessed by antithyroglobulin and antithyroid peroxidase antibodies and with diagnostic ultrasonographic findings. Results: ATD was detected in 31.5%, and CD−in 7.8% of T1D patients. Subjects with CD showed either no symptoms or suggestive problems such as short stature, hepatosteatosis, pubertal delay and difficulties in the control of diabetes. Patients with ATD had no clinical symptoms. DQ8 was the most prominent finding in CD. Conclusions: It is essential that patients with T1D, regardless of presence or absence of symptoms, should be investigated for CD and ATD. Conflict of interest:None declared.

We present ultrasonographic and magnetic resonance imaging findings of intratesticular adrenal rests in a 16-year-old patient with congenital adrenal hyperplasia. Scrotal ultrasonography showed bilateral well-delineated homogenous hypoechoic lesions located around the mediastinum testis, which were highly vascularized on power Doppler ultrasonography. Relative to normal testicular parenchyma the lesions were iso- or hyperintense on T1-weighted and hypointense on T2-weighted images. T2-weighted images also showed a target-like appearance caused by a more hypointense peripheral halo around the lesions. The lesions enhanced remarkably on post-contrast images. This case suggests that radiological evaluation of testes, even in the presence of normal physical examination findings, should be included in periodical follow-up of patients with congenital adrenal hyperplasia. Magnetic resonance (MR) imaging is useful in demonstrating the lesions, because the contrast resolution better than with ultrasonography.

Context: The central clinical feature of GH insensitivity (GHI) is severe growth failure associated with elevated serum concentrations of GH and abnormally low serum levels of IGF-I. GHI can be the result of an abnormality in the GH receptor or aberrancies downstream of the GH receptor. Objective: We investigated the GH-IGF-I axis in a young female GHI subject who presented with a height of 114 cm (−7.8 sd score) at age 16.4 yr. Patient: The subject, from a consanguineous pedigree, had circulating levels of GH and GH-binding protein that were normal to elevated, whereas IGF-I (7.2 ng/ml; normal, 242–600), IGF-binding protein-3 (543 ng/ml; normal, 2500–4800), and acid-labile subunit (1.22 μg/ml; normal, 5.6–16) levels were abnormally low and failed to increase during an IGF-I generation test. Design: Dermal fibroblast cultures were established with the consent of the patient and family. Immunoblot analysis of cell lysates and DNA sequencing of her signal transducer and activator of transcription 5b (STAT5b), a critical intermediate of the GH-IGF-I axis, were performed. Results: Sequencing of the STAT5b gene revealed a novel homozygous insertion of a single nucleotide in exon 10. The insertion resulted in a frame shift, leading to early protein termination and consequent lack of immunodetectable STAT5b protein. Conclusion: The identification of a second case of severe growth failure associated with STAT5b mutation implicates a unique and critical role for STAT5b in GH stimulation of IGF-I gene expression and statural growth.

The management of children with congenital adrenal hyperplasia (CAH) remains a challenge, especially with regard to their growth potential. We aimed to determine the correlation of the final height of Turkish children with classical CAH to their genetic height potential and to determine the effect of hydrocortisone replacement therapy on the final height. A total of 24 CAH (16 simple virilizing and 8 salt-wasting form) were included in this retrospective longitudinal study. The final height (FH), final height standard deviation score (FHSDS), target height (TH), target height standard deviation score (THSDS), corrected height for target height (CHSDS), weight, and body mass index (BMI) were calculated for all patients. We evaluated the adult height taking into consideration the correlation with the genetic height potential and the country standards. The average follow-up time was 14.2 +/- 3.1 years and the average daily hydrocortisone dose was 19.7 +/- 2.9 mg/m2. The mean FH and FHSDS were 152.2 +/- 7.2 cm and -1.0 +/- 1.1 SD, respectively, in females and 163.1 +/- 6.6 cm and -1.2 +/- 1.0 SD, respectively, in males. The CHSDS was found to be -0.73 +/- 0.9 SD. FH was below the TH in 79.1% of our cases. In 20.8% of our patients, FH was less than the third percentile for the standard height for our country. Interestingly, the FH showed no correlation with the dosage of hydrocortisone. Thirteen of our cases (54.2%) reaching FH were obese/overweight. A positive correlation was detected between hydrocortisone treatment and the BMI. The observations that 79.1% of our classical CAH cases receiving an average daily hydrocortisone dose of 19.7 +/- 2.9 mg/m2 ended up with an adult height below the TH and that 54.2% of the cases were overweight/obese lead us to believe that we should be using the lowest possible dose for treatment.

Premature pubarche can be benign, or it can be an early marker of insulin resistance in some girls. The aim of this study was to evaluate insulin resistance in prepubertal girls presenting with premature pubarche (n = 19; mean age = 6.93 +/- 1.78) as compared to age- and Tanner stage-matched controls (n = 10; mean age = 7.55 +/- 1.32) using indirect insulin resistance parameters. Two groups were compared by means of oral glucose tolerance test (OGTT), indirect insulin resistance (IR) parameters [homeostasis assessment (HOMA) models: HOMA-IR, glucose/insulin (G/I)] and serum lipid profiles. In the girls with premature pubarche, mean baseline insulin level and HOMA-IR value were significantly higher and G/I ratio was lower than in the control group. IR was observed in 42.1% and in 31.6% according to HOMA-IR value and G/I ratio, respectively. Even at diagnosis, IR was increased in a significant portion of the girls with premature pubarche.

Human chorionic gonadotropin (hCG) stimulation test is a reliable dynamic test for the evaluation of testicular function during childhood. Several protocols have been recommended but their reliability is controversial. In order to decide the best timing to measure stimulated testosterone levels in short- and long-term hCG protocols, we evaluated 83 prepubertal patients in two group. In group A, 34 patients with isolated micropenis and in group B, 49 inguinal cryptorchidic patients were enrolled. In group A short-term hCG protocol (3000 IU/m2/im/3 days) and in group B long-term hCG protocol (1500 IU/m2/im; thrice a week for 3 weeks) was administered. Blood samples were drawn at the initiation of the test and then at the 1st and 4th days after the last hCG injection. Each case's peak stimulated testosterone (Tmax) and the incremenet in plasma testosterone (deltaT) were calculated and compared with the 1st and 4th day responses within the group. In the short-term protocol the 4th day responses were higher than the 1st day responses (p0.01). Interestingly, while four patients had insufficient responses at the 1st day, three had sufficient Leydig cell response at the 4th day. In the long-term protocol group, in contrast to the short-term group, the 1st day responses were higher than the 4th day (p0.01). According to our results, while performing hCG test in a patient, if a short-term protocol is planned, it is more convenient to check the 4th day testosterone response. On the other hand, in a long-term protocol it is best to check the 1st day response. We suggest that even if a patient's 1st day response is inadequate, the 4th day response should be checked in order to avoid misdiagnosis.

Over the past 20 years, orally administered biphosphonates have been used extensively in the management of a number of common skeletal disorders of different etiology. Recently, in clinical practice, in a number of cases in whom oral therapy is insufficient or contraindicated, intravenous administration of pamidronate presents an alternative therapeutic option. In order to investigate the clinical and radiological effects of cyclic intravenous pamidronate administration in children with osteogenesis imperfecta, a prospective open study of pamidronate treatment was undertaken in a cohort of eight bed-bounded (3.6-13.8 years) patients with severe osteoporosis and vertebral deformities. Pamidronate was administered at a dose of 0.5 mg/kg/ day for three days. Tri-monthly cyclic intravenous infusions were performed over-one year. Bone density, verebral corpus heights, estimated volumetric bone density and biochemical measurements were analyzed. Side effects of the therapy were determined via questionnaire. Significant reductions in the number of bone fractures and pain were observed in all patients. Ambulation scores were significantly altered and seven of eight patients became independent. Serum alkaline phosphatase levels decreased significantly. Lumbar X-ray and densitometry showed a striking improvement by the end of the treatment period. Even spaced dense lines corresponding to infusion periods were observed on roentgenograms of the radio-ulnar region. Pubertal progression and growth velocity were not affected inversely during therapy. Although we did not observe any severe side effect, one patient's blood urea nitrogen level was altered slightly. In conclusion, one year cyclical pamidronate treatment seems to be effective and safe in improving bone mineralization and in reducing fracture incidence in severe osteoporosis.

Amac: Obezite vucutta asiri yag depolanmasi ile ortaya cikan enerji metabolizmasi bozuklugudur. Cocukluk caginda baslayan obezitenin eriskin donemde de devam etmesi ve saglik icin risk olusturmasi soz konusudur. Gerec ve yontem: Bu arastirmada Ankara ili Mamak ilcesine bagli bir ilkogretim okulunda ve lisede 6-17 yas grubundaki 1510 cocugun boy ve agirliklari olculerek vucut kitle indeksi (VKI) ve relatif vucut kitle indeksi (RVKI) hesaplanmis, obez olanlarin gunluk beslenmeleri ve aktiviteleri bir anket formu ile degerlendirilmistir. Bulgular: RVKI degerlerine gore tum cocuklarin % 4.8’i obezdi. Obezlerin % 81.9’unda RVKI 121- 140, digerlerinde ise 140’tan buyuktu. Obez cocuklarin % 55.6’sinin kiz cocuk oldugu goruldu. Obezite sikligi 6-12 yas arasindaki cocuklarda % 4.4, 12-17 yas arasindaki cocuklarda % 5.4 olarak saptandi. Ayrica antropometrik olcumler Neyzi standartlarina gore degerlendirildiginde erkek cocuklarin % 1.9’unun, kiz cocuklarin ise % 3.7’sinin agirlik persentillerinin 97’nin uzerinde oldugu saptandi. RVKI degerlerine gore obezite tanisi konan ogrencilerin % 90.3’unde ailede obezite oykusu, % 82.3’unde ailede kalp hastaligi, diabet, hipertansiyon gibi hastaliklar vardi. Anketin analizinde obez cocuklarin aktivite duzeylerinin dusuk oldugu ve hatali beslenme aliskanliklarina sahip olduklari belirlendi. Sonuc: Bu arastirma obezitenin okul cocuklarinda onemli bir sorun oldugunu, genetik yatkinligin yaninda beslenme aliskanliklarinin ve fizik aktivitelerindeki yetersizligin de obezite olusumunda etken olabilecegini gostermistir.