Newborn Screening for Congenital Hypothyroidism

WOS: 000339648900003PubMed ID: 23154158Newborn screening (NS) for congenital hypothyroidism (CH) is one of the major achievements in preventive medicine. Most neonates born with CH have normal appearance and no detectable physical signs. Hypothyroidism in the newborn period is almost always overlooked, and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of NS. Blood spot thyroid stimulating hormone (TSH) or thyroxine (T4) or both can be used for CH screening. The latter is more sensitive but not cost-effective, so screening by TSH or T4 is used in different programs around the world. TSH screening was shown to be more specific in the diagnosis of CH. T4 screening is more sensitive in detecting especially those newborns with rare hypothalamic-pituitary-hypothyroidism, but it is less specific with a high frequency of false positives mainly in low birth weight and premature infants. The time at which the sample is taken may vary. In the majority of the centers, blood is obtained from a heel prick after 24 hours of age to minimize the false positive high TSH due to the physiological neonatal TSH surge that elevates TSH levels and causes dynamic T4 and T3 changes in the first 1 or 2 days after birth. Early discharge of mothers postpartum has increased the ratio of false positive TSH elevations. Although transient hypothyroidism may occur frequently, all these infants should be treated as having CH for the first 3 years of life, taking into account the risk of mental retardation. A reevaluation after 3 years is needed in such patients. The goal of initial therapy in CH is to minimize neonatal central nervous system exposure to hypothyroidism by normalizing thyroid function, as rapidly as possible

Gynecomastia: Review

Gynecomastia is a common clinical condition consisting of a benign proliferation of male breast glandular tissue. It may be an incidental finding on routine examination or may present as an acute, unilateral or bilateral, painful tender mass beneath the areolar region. Most cases of gynecomastia have no known cause, especially in patients presenting in adolescence. An imbalance in the ratio of estrogen to androgen tissue levels is postulated as a major cause in the development of gynecomastia. Endocrine investigations may include the measurement of serum testosterone, estradiol, gonadotrophin, prolactin and thyroid function tests, but not all patients with gynecomastia require extensive laboratory analysis. There are three management considerations for gynecomastia: observation, drug therapy and surgery (mastectomy). Surgical removal is recommended: if a trial of medical therapy is unsuccessful; if no regression is present after 1 year observation; if the condition worsens; if psychosocial problems rise due to gynecomastia and in patients after completing pubertal period

Endocrine disrupters - With special emphasis on sexual development

The impact of environmental pollutants in increasingly observed alterations in wildlife is obvious. Many laboratories and a number of human studies have revealed that human beings are not resistant to these contaminants. We briefly discuss the findings of animal and human studies regarding the effects of endocrine disrupting chemicals relevant to clinical problems encountered in child care, namely, premature and delayed sexual development and disorders of male genital development

The frequency of vitamin D insufficiency in healthy female adolescents

Aim: To establish the frequency and causes of vitamin D insufficiency in healthy female adolescents in Izmir, Turkey. Methods: 64 adolescents from alow-(Ikinci Inonu) and a high- (Ilica) socio-economic settlement were included. Parents' monthly income was classified as low, middle and high. The blood samples were drawn at the end of the summer and winter periods. Results: Vitamin D insufficiency percentages for the end-of-winter period were 59.4% in Ikinci Inonu and 15.6% in Ilica, and for the end of summer 25% and 15.6%, respectively. Calcidiol levels of cases from Ikinci Inonu were found to be lower compared with the levels of cases from Ilica (349/15 vs 599/24 nmol/l for end of winter, p = 0.000; 519/22 vs 659/28 nmol/l for end of summer, p = 0.03). Calcidiol levels of cases whose parental monthly income was low and whose mothers were illiterate were significantly lower than the others (489/18 vs 659/29 nmol/l for end of summer, p = 0.01; 339/16 vs 56 +/- 23 nmol/l for end of winter, p = 0.000; 45 +/- 13 vs 64 +/- 29 nmol/l for end of summer, p = 0.007; 36 +/- 17 vs 51 +/- 25 nmol/l for end of winter, p = 0.02; respectively)

Efficacy and safety of oral alendronate treatment in children and adolescents with osteoporosis

Objectives: To evaluate the efficacy and safety of oral alendronate on bone mineral density (BMD) in children and adolescents with osteoporosis

Subclinical hypothyroidism in childhood and adolescense

WOS: 000345022900005PubMed ID: 25153584Subclinical hypothyroidism (SH) is defined as a serum thyroid-stimulating hormone (TSH) level above the reference range with normal serum free thyroxin (sT4) and free triiodothyronine (sT3) levels. The prevalence of SH in children and adolescents is reported between 1.7% and 9.5%. Hashimoto's thyroiditis is the most prevalent cause of SH in children. Although it has been suggested that SH is entirely an asymptomatic laboratory diagnosis, typical hypothyroid symptoms as well have been reported in some patients. Results of the adult studies on SH revealed that SH had unfavorable effects on cardiovascular system (atherosclerosis); metabolic parameters (dyslipidemia, insulin resistance, etc.); neuromuscular system; and cognitive functions in the long term. The number of studies investigating the effect of childhood SH on growth, bone maturation, lipid parameters, carbohydrate metabolism, neuromuscular system, and cognitive and cardiac function is limited. Knowledge about the natural history of SH is unclear even though there are numerous studies upon this subject. In children and adults, treatment of SH with L-T-4 is still a matter of debate, and there is no consensus on this issue yet

Clinical and diagnostic characteristics of hyperprolactinemia in childhood and adolescence

WOS: 000316895000001PubMed ID: 23327784Pituitary adenoma is the most common cause of hyperprolactinemia, which is a rare endocrine disorder encountered in pediatric patient care. Epidemiological and clinical information about hyperprolactinemia in childhood and adolescence is limited. Clinical signs of hyperprolactinemia are very heterogeneous. In girls, disturbances in menstrual function and galactorrhea may be seen, whereas in boys, headache, visual disturbances, delayed pubertal development and hypogonadism are often present. Owing to the ease of ordering a serum prolactin measurement, an evidence-based, cost-effective approach to the management of this endocrine disorder is required. Before a diagnosis of hyperprolactinemia is made, drug use, renal insufficiency, hypothyroidism, and parasellar tumors should be excluded. The main objectives of treatment are normalization of prolactin level, adenoma shrinkage, and recovery from clinical signs related to hyperprolactinemia. In patients with microadenoma, invasive or non-invasive macroadenoma, and even in patients with visual field defects, dopamine agonists are the first-line treatment. Surgical treatment is indicated in patients who are unresponsive or intolerant to medical treatment or who have persistent neurological signs. Radio therapy should be considered as a supportive treatment for patients in whom surgery fails or medical response is not achieved