Cyclic pamidronate therapy in children with osteogenesis imperfecta: results of treatment and follow-up after discontinuation.

Background: Cyclic intravenous pamidronate treatment is widely used for symptomatic therapy of osteogenesis imperfecta (OI). However, data after discontinuation are very limited.

Aim: The results of cyclical pamidronate treatment in 14 patients with moderate/severe OI and follow up of six of them after discontinuation are presented to assess the effects of pamidronate and its discontinuation.

Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism.

Growth hormone (GH) is involved in growth, and fat and carbohydrate metabolism. Interaction of GH with the GH receptor (GHR) is necessary for systemic and local production of insulin-like growth factor-I (IGF-I) which mediates GH actions. Mutations in the GHR cause severe postnatal growth failure; the disorder is an autosomal recessive genetic disease resulting in GH insensitivity, called Laron syndrome.

Lipoprotein(a) levels in girls with premature adrenarche.

Aim: Elevated lipoprotein(a) (Lp(a)) level is a risk factor for cardiovascular disease (CVD). Women with polycystic ovary syndrome (PCOS) have higher Lp(a) and risk for CVD than controls. The girls with premature adrenarche (PA) were shown to share similar hormonal/metabolic properties with PCOS.

Diagnostic value of salivary cortisol in children with abnormal adrenal cortex functions.

Aims: It has been shown that the free cortisol level in saliva may reflect plasma free cortisol. The measurement of cortisol in saliva is a simple method, and as such it is important in the pediatric age group. In this research, the diagnostic value of measurement of salivary cortisol (SC) measurement was examined in adrenal insufficiency (AI).

TNF-alpha levels in children with growth hormone deficiency and the effect of long-term growth hormone replacement therapy.

Objective: Growth hormone (GH) has been suggested to modulate the release of some cytokines including TNF-alpha. To investigate TNF-alpha levels in children with GH deficiency (GHD), to evaluate alteration in TNF-alpha levels during recombinant human GH (rhGH) treatment, and to analyze possible correlations between TNF-alpha and GH, IGF-1 and IGFBP-3.

Design: Twenty-four children, aged 12.

Cholestatic hepatitis as a result of severe cortisol deficiency in early infancy: report of two cases and review of literature.

Cholestatic hepatitis is identified as one of the features of hypopituitarism in the newborn, but the exact etiology of cholestasis in these cases has not been well established yet. We report here two infants, one with isolated glucocorticoid deficiency and the other with multiple pituitary hormone deficiency, indicating primary and central adrenal insufficiency, respectively, who presented with recurrent hypoglycemic seizures and cholestatic hepatitis. Severe cortisol deficiency in these cases was suggested to be the cause of cholestatic hepatitis.

Global fibrinolytic capacity is decreased in girls with premature adrenarche: a new pathological finding?

Objective: Global fibrinolytic capacity (GFC) is a sensitive method reflecting all of the molecular components involved in the process of fibrinolysis. Recently, a decrease in GFC has been shown in women with polycystic ovary syndrome (PCOS). Girls with premature adrenarche (PA) have been shown to have hyperinsulinemia and dyslipidemia in addition to hyperandrogenemia, similar to women with PCOS.

Bone mineral density and serum bone turnover markers in survivors of childhood acute lymphoblastic leukemia: comparison of megadose methylprednisolone and conventional-dose prednisolone treatments.

During recent decades, the survival rate after childhood acute lymphoblastic leukemia (ALL) has improved substantially; consequently, the long-term side effects of ALL and its treatment have gained attention, of which osteoporosis is one of the most important. The purpose of the present study was to compare the influence of different treatment protocols that include high-dose methylprednisolone (HDMP) versus conventional-dose prednisolone (CDP) for remission-induction therapy on bone mineral density (BMD) and serum bone turnover markers in survivors of childhood ALL after cessation of chemotherapy. Thirty-six boy and 23 girl survivors, treated for ALL, were cross-sectionally studied, at a mean age of 11.

Influence of iodine supplementation on serum insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) levels in severe iodine deficiency.

Iodine deficiency is an important public health problem worldwide. In addition to severe consequences such as brain damage, developmental delay, deficits in hearing and learning, it also has a negative impact on growth. The negative impact of severe iodine deficiency (SID) on insulin-like growth factor-I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3) was shown previously.

Endocrinological outcome of different treatment options in children with craniopharyngioma: a retrospective analysis of 66 cases.

Craniopharyngioma is one of the leading causes of hypothalamic-pituitary dysfunction in childhood, caused either by the tumor itself or the consequences of treatment. Tumor management in terms of recurrence rate, quality of life and complications is still controversial. Sixty-six patients with craniopharyngioma at pediatric age were reviewed for symptoms, signs, types of treatment, recurrence rates, complications, and endocrinological outcome.

Trimethoprim-sulfamethoxazole induced prolonged hypoglycemia in an infant with MHC class II deficiency: diazoxide as a treatment option.

Hyperinsulinemic hypoglycemia associated with trimethoprim-sulfamethoxazole (TMP-SMX) has generally been reported in adults who had renal impairment or in patients with AIDS using high dose TMP-SMX. We present a 5 month-old infant with immunodeficiency due to major histocompatibility complex class II expression defect, developing hypoglycemic convulsion on the third day of high dose TMP-SMX administration. High insulin and C-peptide levels were documented at the time of hypoglycemia.

Serum insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 levels in severe iodine deficiency.

Iodine deficiency is an important public health problem worldwide. It is well known that it has severe consequences such as brain damage, developmental delay, deficits in hearing and learning and lower intellectual attainment. It also has a negative impact on growth.

The effects of tonsillectomy and adenoidectomy on serum IGF-I and IGFBP3 levels in children.

Objective: Obstructive adenoid and tonsillar hyperplasia may present with retardation of growth. Interruption of growth hormone-insulin-like growth factor I axis resulting from abnormal nocturnal growth hormone secretion is among the postulated causes. Growth hormone (GH) mediates its anabolic effects on tissues through insulin-like growth factor I (IGF-I).

Responses of bone turnover markers and bone mineral density to growth hormone therapy in children with isolated growth hormone deficiency and multiple pituitary hormone deficiencies.

Growth hormone deficiency (GHD) is an important cause of decreased bone mass in childhood and adolescence. The role of other pituitary hormone deficiencies on bone mass is still a query in children. Thirty-nine children (28 with isolated GHD [IGHD] and 11 with multiple pituitary hormone deficiency [MPHD]) were investigated to show the effects of IGHD vs MPHD on bone status.

Feminizing Sertoli cell tumor associated with Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the association of mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps and with an increased risk of developing gonadal sex tumors besides other malignancies. We describe a 7 1/2 year-old boy with PJS and bilateral gynecomastia. He has had buccal pigmentation since 1.

Risk factors for vitamin D deficiency in breast-fed newborns and their mothers.

Objectives: Vitamin D plays a critically important role in the development, growth, and mineralization of the skeleton during its formative years, and performs an equally essential role in maintaining a healthy mineralized skeleton for adults of all ages. We evaluated the vitamin D status and risk factors for vitamin D deficiency in healthy breast-fed newborns and their nursing mothers.

Methods: Serum 25-hydroxyvitamin D (25OHD), calcium, phosphorus, and alkaline phosphatase levels were measured in 54 newborns and their nursing mothers whose ages ranged from 18 to 38 y.