Nursen Yordam

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. The majority of symptoms was related to the neurological system. Complaints only affecting the endocrinological system were seen in 6% of patients. The most frequent complaints were headache and vomiting (74.2%). The main endocrinological complaints were polyuria and polydipsia (15%), and lassitude (10.6%). Although short stature was a symptom in 9.1% of patients, it was a finding in 39.7% of patients. Plain skull X-rays raised the suspicion of intracranial tumor in more than 90% of children with craniopharyngioma. Recurrence rates were independent of the extent of tumor removal (total or subtotal). The frequency of endocrine dysfunction increased significantly after treatment. The most frequent hypothalamic-pituitary dysfunction was growth hormone deficiency (100%) and gonadotropin deficiency (80%). Hypothyroidism was diagnosed in 74% of patients. The frequency of hypothalamic-pituitary dysfunction was not affected by the extent of tumor removal. Radiotherapy did not increase the frequency of endocrine dysfunctions further. In conclusion, growth follow-up in childhood seems to be an important indicator of craniopharyngioma in early diagnosis. Radiotherapy and extent of tumor removal – either total or subtotal – did not influence endocrine outcome.

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). Most of the circulating IGF‐I is bound to insulin‐like growth factor binding protein 3 (IGFBP3). The objective of this study is to determine blood serum levels of IGF‐I and IGFBP3 in patients with adenoid and tonsillar hypertrophy. Furthermore, we want to investigate the effect of tonsillectomy and adenoidectomy (T&A) on these levels.

Hashimoto's thyroiditis in children and adolescents: A retrospective study on clinical, epidemiological and laboratory properties of the disease

UNLABELLED Hashimotos thyroiditis (HT) is the most common cause of goiter and acquired hypothyroidism in children and adolescents in iodine replete areas. To find out the clinical, epidemiological and laboratory characteristics of the disease in childhood, we reviewed files of 162 children and adolescents with HT followed in the Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine. RESULTS Female patients constituted 86.4% (n = 140) of all patients with a female:male ratio of 6.4. Mean age at diagnosis was 11.4 +/- 2.97 years (age range 4.4-16.5 years). At the time of diagnosis 43.2% of the patients (n = 70) were euthyroid, 24.1% (n = 39) had subclinical hypothyroidism, 21% (n = 34) had overt hypothyroidism, and 8.6% (n = 14) had overt and 3.1% (n = 5) subclinical hyperthyroidism. CONCLUSIONS Autoimmune thyroiditis is more frequent in females, and increases in frequency over age during childhood and adolescence. At the time of diagnosis, frequency of overt and subclinical hypothyroidism is similar to that of euthyroid goiter.

Urological manifestations of the Wolfram syndrome: observations in 14 patients.

PURPOSE Since the initial description of the Wolfram syndrome, various anomalies have been associated with this rare entity. Urinary tract dilatation and bladder dysfunction, usually in the form of a large, atonic bladder, are coexisting features of this syndrome that are commonly believed to be secondary to high urine output in diabetes insipidus. The presentation and nature of the urological manifestations of this syndrome remain controversial due to the lack of large series in the literature. We evaluated the urological manifestations of this rare syndrome. To our knowledge we report the largest series of patients (14) with the Wolfram syndrome who underwent a complete urological evaluation. MATERIALS AND METHODS Eight boys and 6 girls with a mean age of 13.4 years underwent upper tract imaging and a video urodynamic investigation. A multidisciplinary consultation was obtained to investigate all components of the syndrome. RESULTS Upper tract dilatation was present in 11 patients. Urodynamics revealed a normal bladder in only 1 patient, who also had severe hydronephrosis. Seven patients had a low capacity, high pressure bladder, while 6 had an atonic bladder. The type of bladder dysfunction did not correlate with time since the onset of diabetes mellitus or diabetes insipidus, or the severity of hydronephrosis. Three patients with sphincteric dyssynergia also had a hyperreflexic bladder. CONCLUSIONS Contrary to some earlier reports, our findings suggest that bladder dysfunction does not always present as a large atonic bladder in the Wolfram syndrome. A low capacity, high pressure bladder with sphincteric dyssynergia is also common. The presence and duration of other syndrome manifestations do not correlate with the type of bladder dysfunction, suggesting that bladder dysfunction may also be a primary rather than secondary component of the syndrome.

Screening for congenital hypothyroidism in Turkey

AbstractA pilot study was performed to determine the incidence of congenital hypothyroidism (CH) in Turkey and to build a model for nationwide screening. From December 1991 to December 1992, 30097 newborns were screened for CH using a primary measurement of thyroid stimulating hormone in capillary blood on days 3–5 of life. Samples were obtained in collaboration with the ongoing nationwide phenylketonuria screening programme. Eleven cases of primary CH were detected giving the incidence of 1∶2736. Recall rate was 2.3%. Replacement therapy withl-thyroxine was started after the confirmation of diagnosis. The median age at the initiation of replacement therapy was 23 days (range 7–35 days).ConclusionThe incidence of CH is notably higher in Turkey than reported in most other countries. Iodine deficiency and/or dyshormonogenesis might contribute to this high incidence. This result emphasizes the necessity of a nationwide screening programme.

Fludrocortisone treatment in a child with severe cerebral salt wasting.

Hyponatremia is a common complication of intracranial disease or surgery. An evaluation should be undertaken to determine whether cerebral salt wasting (CSW) or inappropriate secretion of antidiuretic hormone is present as a cause. Since the treatment principles are completely different in the two pathological states, differential diagnosis is very important. CSW is defined as the renal loss of sodium leading to hyponatremia and decreased extracellular fluid volume. In the literature, it has been noted that mineralocorticoid administration can be useful in CSW cases. We herein present an 11-year-old boy who developed hyponatremic seizures after intracranial tumor resection. He was diagnosed with CSW on the basis of high urinary sodium excretion and increased urine output, together with signs and symptoms of dehydration. Despite intensive fluid and salt therapy, we were unable to decrease the urinary output. Therefore, fludrocortisone therapy was administered and his urinary output and sodium excretion were decreased and his serum sodium level was normalized. In conclusion, in addition to fluid and salt replacement, mineralocorticoid supplementation also seems to be a safe and effective treatment for CSW.

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). Methods: Fifty-one patients, mean age 10.8 ± 4.29, who were investigated for possible AI, were included. Basal cortisol levels were below 18 µg/dl. Adrenal function was determined by low-dose ACTH test. During the test, samples for SC were obtained simultaneously with serum samples (at 0–10–20–30–40 min). Results: Mean basal serum cortisol level was 8.21 ± 4.10 µg/dl (mean ± SD). Basal SC was correlated to basal serum cortisol (r = 0.64, p < 0.001). A cut-off of 0.94 µg/dl for SC differentiated adrenal insufficient subjects from normals with a sensitivity and specificity of 80 and 77%, respectively. A peak SC less than 0.62 µg/dl defined AI with a specificity of 100%; however, sensitivity was 44%. Conclusion: Measurement of SC may be used in the evaluation of AI. It is well-correlated to serum cortisol. Peak SC in low-dose ACTH test can be used to differentiate patients with AI in the initial evaluation of individuals with suspected AI.

True hermaphroditism: clinical features, genetic variants and gonadal histology.

True hermaphroditism is a rare cause of intersexuality in which both ovarian and testicular tissue is present in the same individual. We present the clinical findings, karyotype, gonadal histology and management of eight patients with true hermaphroditism. Their ages ranged from 43 days to 12 years at the first evaluation. The presenting symptoms were ambiguous genitalia (6 patients), isolated clitoromegaly (1 patient) and hypospadias (1 patient). The most common karyotype was 46,XX (6 patients). In one patient the karyotype was 46,XY and in another 45,XO/46,XY mosaicism, which is rare in the literature. A vagina was found by genitography in all patients, and at laparotomy the uterus was found normal in five patients, hypoplastic in one patient, as a fibrous band in one, and absent in the remaining patient. Histological investigation of the gonads revealed bilateral ovotestis in two patients, ovotestis plus ovary in two patients, and ovary on one side and testis on the other side in three patients. Five patients were assigned to the female sex, and three to the male sex. One of these patients was changed from male to female after evaluation.

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. PATIENTS AND METHODS Pamidronate was administered at a dosage of 0.5 mg/kg for 3 successive days every 2 months in 14 patients with OI aged 5.10 +/- 3.68 years. Treatment was stopped in six patients after a duration of 16.33 +/- 4.63 months, due to stable bone mineral density (BMD) values and/or no fracture in the last 6 months, or due to family demand. The main outcome measures were areal BMD (aBMD) of the lumbar spine, biochemical markers of bone metabolism, fracture rate, and clinical evaluation. RESULTS Areal BMD and aBMD z-scores showed significant improvement during the treatment period. Both serum and bone-specific alkaline phosphatase values were significantly decreased. Fracture rate reduced significantly from 3.5 +/- 1.01 to 0.83 +/- 0.77 fractures/year. Bone pain, which was severe in five patients, disappeared just after the first cycle, and the activity and mobility of patients increased. aBMD and aBMD z-scores were decreased 1.5 years after discontinuation, although not statistically significant. Annual fracture rate increased significantly. Bone pain recurred in four patients. Pamidronate treatment was reinstituted in five of these patients at the end of 1.5 years. CONCLUSION Cyclical pamidronate treatment is very effective in children with moderate/severe OI. This treatment should be started early enough before the occurrence of irreversible deformities and must be given for a longer time during the growth period.

Serum insulin-like growth factor-I and insulin-like growth factor binding protein-3 levels in children with zinc deficiency and the effect of zinc supplementation on these parameters.

AIM To determine the effect of zinc (Zn) therapy on serum insulin-like growth factor-I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3) levels in children with Zn deficiency and growth retardation, but without systemic disease, and to investigate the effect of Zn supplementation on these parameters. METHODS Twenty-nine children (11 girls and 18 boys) were included. Blood samples were obtained for serum IGF-I and IGFBP-3 determination before and after 50 mg/day Zn supplementation for two months. RESULTS The mean age of the children was 11.0 +/- 3.1 years (range 3.7-16.2 years). Serum IGF-I and IGFBP-3 levels were below the mean values in 28 (96.6%) and all children, respectively. After Zn therapy, serum IGF-I levels were increased in 62% of the children; this increase was statistically significant in 48.3% of the children. Serum IGFBP-3 levels were significantly increased in 10 children. There was a positive correlation between serum Zn level and bone age, and serum IGF-I and IGFBP-3 levels. A positive correlation was present between BMI (r = 0.485, p < 0.001) and serum IGF-I levels before therapy. CONCLUSION Serum IGF-I and IGFBP-3 levels were decreased in children with Zn deficiency, and were increased after Zn supplementation. In addition, after Zn supplementation, increment of serum IGF-I levels was found to be higher in children with low BMI than those with normal BMI; therefore, the nutritional status of children may also be important, as well as Zn supplementation. Additionally, the determination of higher variation percentile of serum IGF-I level in prepubertal children compared to pubertal children was an interesting finding and necessitates further investigation.