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Laron syndrome (LS) is a rare disorder leading to short stature as a result of growth hormone (GH) insensitivity. It is caused by mutations in GH receptor gene and characterized by post-natal growth retardation, craniofacial abnormalities, high serum GH and low insulin-like growth factor-I (IGF-I) levels. Several different genetic mutations have been documented up to date. In this article, a patient with LS is reported. A 2-year-old female patient was admitted to the hospital with the complaint of short stature. Her height and weight was 71.7 cm [

Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms and additional hormonal resistance can be observed in type Ia, which is also known as Albright hereditary osteodystrophy. Our patient was an eight-year and nine-month old girl with typical Albright’s hereditary osteodystrophy phenotype including short stature, obesity, round face, low nasal bridge, shortened metacarpals, and mild mental retardation. In her biochemical examination, high PTH level and hypothyroidism is detected in spite of normal calcium and phosphor levels. As a result of clinic and laboratory tests, the findings were consistent with PHP type Ia with normocalcemia. In her guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 (GNAS 1) gene serial analysis, C-308T>C (p1103T) transformation was detected, which was previously reported in a PHP type Ia patient. In this report, we’ve aimed to emphasize the fact that calcium and phosphor level in the blood of the patient with PHP type Ia can be measured normal.

Malnutrition in childhood is a dramatic indicator of poor socio-economical status worldwide. To recognize and reveal the socio-demographic features is crucial, especially for developing countries. Our aim was to investigate the prevalence and association with sociodemographic variables of malnutrition in 0-5 years old children in Van, Turkey. A total of 702 children are included in this cross-sectional study. Demographic features of subject including age, gender, family characteristics and other data were obtained. Nutritional assessment was done using anthropometric indices including weight-for-age, height-for-age, weight-for-height, head circumference and body mass index-for-age. Multivariate logistic regressions were carried out to assess malnutrition- associated factors. Prevalence of underweight, stunting and wasting were 19.7, 17.7 and 16.2%, respectively. Socio-demographic variables that statistical significantly in association with malnutrition were low monthly family income, educational level and employment status of father, parental consanguinity, number of pregnancies, regular intake of vitamin D and history of prematurity. The prevalence of children with head circumference-z score ≤−2SD and body mass index-for-age ≤−2SD were 9.8 and 16.3%, respectively. Multivariate analysis detected following risk factors for these indices; low monthly family income, history of prematurity, unemployed father and the period between pregnancies (1- 2 years). We found that prevalence of malnutrition in the city of Van, was still higher than more developed regions of Turkey. The associated risk factors of malnutrition should be specifically interpreted by health professionals and also by government authorities that are responsible for making practical politics of public health.

An 8-year-old girl patient referred to our emergency clinic with articular pain, stomachache and fever complaints. Past history revealed that she was suffering from pain in both knees and ankle joints for 8 days. The joint temperature increased and swelling did not accompany articular pain. Family history was unremarkable. In the physical examination, there was sensitivity in the knees, elbows and ankles during movement. The patient had normal complete blood cell count, and no blast or atypical cells were observed in peripheral smear. Serum electrolytes, liver and kidney function tests were normal except for hypercalcemia. The 25 (OH) vitamin D and 1-25 (OH)2 vitamin D levels were within normal range. In bone marrow aspiration, infiltration of cells with lymphoblastic and homogenous cellular features was observed. With positivity of cCD79, CD19, CD45, the case was considered as preB cell leukemia. Body bone scintigraphy performed for bone metastasis was normal. After the chemotherapy, hydration and furosemid treatment, the calcium level returned to normal. This case emphasized on the fact that, children with hypercalcemia should undergo a detailed examination for malignancies even though no blast or atypical lymphocyte are observed in their peripheral blood smear before steroid treatment is applied and if necessary, bone marrow aspiration should be taken into account.

Background: Protein-energy malnutrition (PEM) results from food insufficiency as well as from poor social and economic conditions. Development of PEM is due to insufficient nutrition. Children with PEM lose their resistance to infections because of a disordered immune system. It has been reported that the changes occurring in mediators referred to as cytokines in the immune system may be indicators of the disorders associated with PEM.

The central nervous system is one of the most crucial targeted systems of hyphotiroidism where tissues undergo various broad developmental processes such as neuronal and glial cellular differentiation, migration and myelinization. However brain images are mainly normal. In this article we present findings related to a 1-year-old girl who has been referred to our outpatient clinic with complaints of slowing of movement and lack of interest. She was diagnosed with hypothyroidism. Her brain magnetic resonance image obtained during diagnosis displayed dysmyelinization. It showed improvement after Na-L thyroxin therapy during follow up.