Micropenis is a medical diagnosis based on correct measurement of length. If stretched penile length is below the value corresponding to - 2.5 standard deviation of the mean in a patient with normal internal and external male genitalia, a diagnosis of micropenis is considered. Micropenis can be caused by a variety of factors including structural or hormonal defects of the hypothalamic-pituitary-gonadal axis. It can also be a component of a number of congenital syndromes. For the etiological evaluation, endocrinologic tests are important. This article reviews the etiology, diagnosis, treatment and management of micropenis.

Objective: To produce weight for length/height (WLH) percentiles to be used for the screening of growth and assessment of failure to thrive in infancy and early childhood.
Methods: The data (2009-2010) of the Anthropometry of Turkish Children aged 0-6 years (ATCA-06) study were used. A cross-sectional study was designed to calculate the WLH references. Reference weight values for each 5-cm LH intervals were determined using the LMS Chart Maker Pro version 2.3 software program (The Institute of Child Health, London).
Results: A total of 3123 children (1573 female, 1550 male) aged 0-6 years were included in the calculation of the 3rd, 5th, 10th, 25th, 50th, 75th, 85th, 90th, 95th, and 97th WLH percentiles. The difference between the 3rd and the 97th percentiles for males was 2.02 cm to 12.64 cm in the 50-54.99 cm and 125-130 cm LH ranges. In the girls, the differences between the 3rd-97th percentiles ranged from 2.02 cm to 12.64 cm in the 50-54.99 cm and 125-130 cm LH groups. The maximum difference between the 3rd and 97th percentiles was about half the variation of mean WLH throughout the first six years of life. The most rapid change in WLH was observed in the 0-2-year period. Turkish references for WLH were not different from the World Health Organization standards.
Conclusions: This is the first study in Turkey presenting WLH references in 0-6 year old children. We suggest that the use of WLH in the first two years of life may be more useful than age-adjusted references in assessment of nutritional status and diagnosis of failure to thrive.

Objective: Disorders of sex development (DSD) are a group of congenital medical conditions that affect life as a whole. In this study, we aimed to reflect the experience of a multidisciplinary team in the clinical/psychiatric follow-up of a group of children and adolescents with DSD.
Methods: The study group consisted of 51 patients diagnosed with DSD. The Kiddie-Schedule for Affective Disorders and Schizophrenia, Wechsler Intelligence Scale for Children-Revised, Draw a Person Test and Children’s Apperception Test, and the Clinical Global Impression Scale (CGIS) were used for psychiatric evaluations.
Results: The mean age of the patients was 7.8 years (median: 7.8; min: 1.0; max: 18.0). Genetic evaluation showed 46,XX configuration in 15 patients (29.4%) and 46,XY in 35 (68.6%). One patient (2.0%) was diagnosed to have a sex chromosome disorder. Forty patients (78.4%) had no problems with their given gender identity and gender role. Thirty-four (66.7%) patients had normal intellectual capacity. Twenty-eight (54.9%) patients did not have any psychiatric problem. Depression, anxiety disorders, attention deficit/hyperactivity disorder, and adjustment disorders were the common diagnoses. The mean score of symptom severity on CGIS-severity-baseline was 6.15±0.68 and after one year, it was 1.46±0.51 (Z=-3.236 p=0.001). The mean score of CGI–Improvement was 1.23±0.44.
Conclusion: It is important to identify and treat the psychiatric disorders encountered in patients with DSD. A psychiatrist needs to be included in the professional team following these patients. Examination and observation results need to be shared by holding periodic team meetings to establish a wholesome point of view for every unique child.

Objective: Type 1 diabetes mellitus (T1DM) is caused by insulin deficiency resulting from progressive destruction of ß cells. The histological hallmark of the diabetic islet is mononuclear cell infiltration. Thiazolidinediones (TZDs) activate PPARg and enhance the actions of insulin. Studies in non-obese diabetic and streptocotozin-treated mouse models demonstrated that pretreatment with TZDs prevented the development of T1DM. The purpose of this study was to examine whether pioglitazone, given with insulin, preserved ß cell function in patients with new-onset T1DM.
Methods: This was a randomized, double-blind, placebo-controlled 24-week study. Subjects received pioglitazone or placebo. Blood sugar, glycated hemoglobin (HbA1c), C-peptide, and liver enzymes were measured at baseline. Boost© stimulated C-peptide responses were measured at baseline and at 24 weeks. Blood sugar, insulin dose, height, weight, and liver enzymes were monitored at each visit. HbA1c was performed every 12 weeks.
Results: Of the 15 patients, 8 received pioglitazone, and 7 - placebo. There was no clinical improvement in HbA1c between or within groups at the completion of the study. Mean peak C-peptide values were similar between groups at baseline. Mean peak C-peptide level was slightly higher at 24 weeks in the pioglitazone group compared to the placebo (1.8 vs. 1.5 ng/mL) which was considered as clinically insignificant. The interaction of HbA1c and insulin dose (HbA1c* insulin/kg/day), which combines degree of diabetic control and dose of insulin required to achieve this control, showed transient improvement in the pioglitazone group at 12 weeks but was not sustained at 24 weeks.
Conclusion: In this pilot study, pioglitazone did not preserve ß cell function when compared to placebo.

Objective: To investigate if L-thyroxine (T4) treatment may influence the clinical course of autoimmune thyroiditis (AIT) or prevent progression to subclinical or overt hypothyroidism in euthyroid nongoitrous pediatric patients with type 1 diabetes mellitus (T1DM) and AIT.
Methods: The study was performed in four Polish pediatric diabetes centers. Of 330 children with T1DM and AIT followed between 2008 and 2012, 101 received L-T4 and 160 underwent clinical observation for 24 months. Thyroid stimulating hormone (TSH), free T4 (fT4), anti thyroid peroxidase antibody (anti-TPO), anti thyroglobulin antibody (anti-TG), glycosylated hemoglobin (HbA1c) levels, and lipid profile were assessed in all patients. Ultrasonographic evaluation was also performed in all children at each examination.
Results: Patients treated with thyroid hormones had higher TSH levels (3.99; interquantile 3.5 to 4.52 vs. 2.09 mIU/L; interquantile 1.55 to 3.06; p<0.0001). A fall in TSH level (0.87 mIU/L 95% CI 0.43-1.30; p<0.0001) was documented after the first year of treatment. FT4 level did not differ between the groups at baseline (p=0.7434), but rose in the treatment group and fell in the control group [mean difference 0.78 95% CI-0.22-1.53 pmol/L (p=0.02) after 12 months and 0.98 95% CI 0.04-1.76 (p=0.005) after 24 months]. Higher levels of anti-TPO were initially found in the treated patients (p<0.0001) and significantly decreased over the 24-month period (p<0.0001). Children in the treatment group had higher anti-TG levels (p<0.0001), which showed a borderline decrease (p=0.08) in time. In the control group, anti-TG levels rose marginally (p=0.06) during the study.
Conclusions: The data demonstrate that treatment with L-T4 in euthyroid pediatric patients with T1DM and AIT stabilizes autoimmune inflammation in the thyroid gland and is to be recommended as soon as the diagnosis is established.

Objective: Insulin resistance (IR) and associated metabolic abnormalities are increasingly being reported in the adolescent population. Cut-off value of homeostasis model of assessment IR (HOMA-IR) as an indicator of metabolic syndrome (MS) in adolescents has not been established. This study aimed to investigate IR by HOMA-IR in urban Indian adolescents and to establish cut-off values of HOMA-IR for defining MS.
Methods: A total of 691 apparently healthy adolescents (295 with normal body mass index (BMI), 205 overweight, and 199 obese) were included in this cross-sectional study. MS in adolescents was defined by International Diabetes Federation (IDF) and Adult Treatment Panel III (ATP III) criteria. IR was calculated using the HOMA model.
Results: Mean height, waist circumference (WC), waist/hip ratio (WHR), waist/height ratio (WHtR), and blood pressure were significantly higher in boys as compared to girls. The HOMA-IR values increased progressively from normal weight to obese adolescents in both sexes. Mean HOMA-IR values increased progressively according to sexual maturity rating in both sexes. HOMA-IR value of 2.5 had a sensitivity of >70% and specificity of >60% for MS. This cut-off identified larger number of adolescents with MS in different BMI categories (19.7% in normal weight, 51.7% in overweight, and 77.0% in obese subjects) as compared to the use of IDF or ATP III criteria for diagnosing MS. Odds ratio for having IR (HOMA-IR of >2.5) was highest with WHtR (4.9, p <0.0001) and WC (4.8, p <0.0001), compared to WHR (3.3, p <0.0001).
Conclusions: In Indian adolescents, HOMA-IR increased with sexual maturity and with progression from normal to obese. A HOMA-IR cut-off of 2.5 provided the maximum sensitivity and specificity in diagnosing MS in both genders as per ATP III and IDF criteria.

Objective: The aim of this study was to compare body fat distribution using dual-energy X-ray absorptiometry (DXA) in young adult subjects with metabolic syndrome (MS) with those without MS and also to determine whether a significant association existed between total body fat mass (FM) and MS along with the effect of birth weight.
Methods: This cross-sectional study was conducted on 393 young adult subjects (175 male, 218 female). Body mass index (BMI), waist circumference, blood pressure, triglyceride, high-density lipoprotein cholesterol and glucose levels were determined. Total body FM, lean mass (LM) and percentage of body fat (%BF) were assessed by DXA. Adult Treatment Panel III criteria were used for the diagnosis of MS.
Results: The prevalence of MS was 5.6% among this group of young adult subjects aged 18.5-21.8 years. Subjects with MS (n=22) had significantly higher values for weight, height, BMI, waist circumference, %BF, total body FM, total body LM, and regional FM and LM. There was no statistically significant difference in bone mineral density between the two groups. There was also no association between birth weight and MS. Multiple logistic regression analysis showed that every 5 kg of total body FM (OR 1.68; 95%CI 1.06-2.66) adjusted for gender, birth weight status, and total body LM were significantly associated with MS.
Conclusion: Total body FM measured by DXA was related to MS in Thai young adults. Thus, body composition analysis might have a role in the identification of subjects with MS status.

The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46, XX male is rare (1:20 000 in newborn males), and SRY positivity is responsible for this condition in approximately 90% of these subjects. External genitalia of 46,XX SRY-positive males appear as normal male external genitalia, and such cases are diagnosed when they present with small testes and/or infertility after puberty. Herein, we report an adolescent who presented with low testicular volume and who was diagnosed as a 46,XX male. SRY positivity was demonstrated in the patient by fluorescence in situ hybridization method.

Bannayan-Riley-Ruvalcaba syndrome (BRRs) is an overgrowth disorder characterized by macrocephaly, pigmented maculae of the glans penis, and benign mesodermal hamartomas (primarily subcutaneous and visceral lipomas, multiple hemangiomas, and intestinal polyps). Dysmorphic features as well as delayed neuropsychomotor development can also be present. These patients have also a higher risk of developing tumors, as the gene involved in BRRs is phosphatase and tensin homologue (PTEN), and up to 30% of the patients have thyroid involvement consistent with multinodular goiter, thyroid adenoma, differentiated non-medullary thyroid cancer, or Hashimoto’s thyroiditis. Here, we report two cases of BRRs at opposite ends of its phenotypic spectrum: clinical manifestations of the first patient were more severe, while the second one showed only few signs and had no family history of the disease. Both cases developed thyroid disorders detected by thyroid ultrasound screening. We believe that it is important for clinicians, specifically pediatric endocrinologists, to know that this syndrome can appear in very subtle ways and also to be aware that thyroid nodules and intestinal polyps seem to be its most frequently encountered features.

Primary hyperparathyroidism (PHPT) is extremely uncommon among children and is more likely to be associated with genetic syndromes, multiglandular involvement, and more severe symptoms. Rickets can very rarely be the presenting feature of PHPT in children. Rickets was diagnosed in a 12-year-old girl presenting with short stature, genu valgum, eversion deformity at the ankle joints, and flat feet. Radiograms showed generalized osteopenia, widening of the distal ends of the long bones along with splaying, cupping and fraying. Biochemical evaluation revealed low serum calcium (7.8 mg/dL), low phosphorus (1.4 mg/dL), vitamin-D deficiency [25-hydroxy-vitamin-D (25(OH)D): 8.7 ng/mL], and elevated intact parathyroid hormone (PTH, 811 pg/mL). Re-evaluation due to lack of clinical improvement following vitamin-D and calcium supplementation revealed hypercalcemia 11.9 mg/dL, normal 25(OH)D 41 ng/mL, persistence of elevated PTH 632 pg/mL. A 99mTc-sestamibi scan showed increased uptake at the lower pole of the right lobe of the thyroid. A right inferior parathyroidectomy was performed. Histopathology revealed chief cell type parathyroid adenoma. Last evaluated 4 months after surgery, the bone pains and proximal weakness had resolved, with significant improvement in the patient’s quality of life. Rickets in the setting of PHPT often masks the classical phenotype of PHPT. In a child with rickets, lack of improvement following vitamin-D supplementation, hypercalcemia at presentation or following vitamin-D supplementation are warning signs which necessitate further evaluation to rule out PHPT.

In many countries, methimazole (MMI) therapy is the first-line treatment in children with Graves’ disease (GD). The rate of side effects of antithyroid drugs (ATDs) in children has been reported to range between 6% and 35%. Of these side effects, polyarthritis is uncommon but serious, and can also develop as a part of the antineutrophil cytoplasmic antibody-associated vasculitis that is induced by ATDs. Here, we describe two GD girl patients aged 15 years and 11 years who developed polyarthritis. The onset of polyarthritis in these patients was 24 days and 28 days after the initiation of MMI therapy, respectively. MMI was suspected of causing the polyarthritis in the two patients and was withdrawn. The symptoms of polyarthritis disappeared rapidly following cessation of treatment. Subsequently, one patient was treated with 131I therapy and the other patient was subjected to thyroidectomy. Although it rarely occurs in pediatric GD patients, severe polyarthritis is a serious side effect of MMI and is an indication for prompt cessation of treatment.