Yenidoğan döneminde geçici endokrin sorunlar (2025)

Neonatal adrenal insufficiency: Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies consensus report

Türk Pediatri Arşivi

It is difficult to make a diagnosis of adrenal insufficiency in the newborn, because the clinical findings are not specific and the normal serum cortisol level is far lower compared to children and adults. However, dehydratation, hyperpigmentation, hypoglycemia, hyponatremia, hyperkalemia and metabolic acidosis should suggest the diagnosis of adrenal insufficiency. Hypotension which does not respond to vasopressors should especially be considered a warning. If the adrenocorticotropin hormone level measured simultaneously with a low serum cortisol level is 2-fold higher than the upper normal limit of the reference range, a diagnosis of primary adrenal insufficiency is definite. Even if the serum cortisol level is normal, a diagnosis of relative adrenal insufficiency can be made with clinical findings, if the patient is under heavy stress. The serum cortisol level should be measured using the method of 'high pressure liquid chromatography' or 'LC mass spectrometry'. Adrenal steroid biosynthesis can be evaluated more specifically and sensitively with 'steroid profiling'. Rennin and aldosterone levels may be measured in addition to serum electrolytes for the diagnosis of mineralocorticoid insufficiency. Adrenocorticotropic hormone stimulation test may be used to confirm the diagnosis and elucidate the etiology. In suspicious cases, treatment can be initiated without waiting for the adrenocorticotropic hormone stimulation test. In schock which does not respond to vasopressors, intravenous hydrocortisone at a dose of 50-100 mg/m 2 or a glucocorticoid drug at an equivalent dose should be initiated. In maintanence treatment, the physiological secretion rate of hydrocortisone is 6 mg/m 2 /day (15 mg/m 2 /day in the newborn). The replacement dose should be adjusted with clinical follow-up and by monitoring growth rate, weight gain and blood pressure. Fludrocortisone (0,1 mg tablet) is given for mineralocorticoid treatment (2x0,5-1 tablets). A higher dose may be needed in the neonatal period and in patients with aldosterone resistance. If hyponatremia persists, oral NACl may be added to treatment. In the longterm follow-up, patients should carry an identification card and the glucocorticoid dose should be increased 3-10-fold in cases of stress.

Pediatric Endocrinology

2009

Objectives To determine the prevalence of permanent and transient congenital hypothyroidism (CH) in Isfahan, Iran. Methods In 256 primarily diagnosed CH patients identified through the neonatal screening programme from May 2002 to February 2005, treatment was discontinued for 4 weeks and T4 and thyroid stimulating hormone (TSH) were measured. Permanent or transient CH was determined from the results of the thyroid function tests and the radiologic findings. Patients with TSH levels .6 (mIU/l) were diagnosed with permanent CH. Results Results were available from 204 patients, of whom 122 patients were diagnosed with permanent CH (59.8%) (prevalence 1:748 births), and 82 with transient hypothyroidism (prevalence 1:1114). Permanent CH was associated with higher initial TSH levels than transient hypothyroidism (P , 0.05). The most common aetiology of CH was dyshormonogenesis. Conclusion The rates of both permanent and transient CH in our study were higher than the comparable worldwide rates. The transient group had low T4 levels, suggesting that iodine contamination should be investigated. The aetiology of CH was also different from that recorded in many other studies.

Neonatal effects of thyroid diseases in pregnancy and approach to the infant with increased TSH: Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies consensus report

Türk Pediatri Arşivi, 2019

Thyroid functions in the fetus and newborn carry importance in terms of the baby's health and development of the central nervous system. Maternaliodine deficiency, exposure to iodine, thyroid diseases (Hashimoto thyroiditis, Graves') and drugs used by the mother affect thyroid functions in the fetus. Reflections of these effects are observed immediately after delivery. Investigation of the mother in terms of thyroid diseases during pregnancy, recognition and appropriate assessment of the required conditions, screening of all newborns in the first days of life in terms of congenital hypothyroidism, timely and appropriate evaluation of the screening results, early diagnosis and appropriate treatment of cases of congenital hypothyroidism, assessment and management of cases of transient thyroid hormone disorders and close monitoring of the thyroid functions and development of patients in whom treatment has been initiated with a diagnosis of hypothyroidism are crucial in terms of developmental outcomes of the babies who have thyroid function disorders or hypothyroidism. This guideline was written with the objective of guiding pediatricians, neonatologists and pediatric endocrinologists in the issue of assessment, diagnosis and management of thyroid function disorders and thyroid diseases concerning the fetus and baby during gestation and neonatal period.

Multiple Pituitary Hormone Deficiency in a Neonate -Clinical Presentation and Management

2020

Transient Neonatal Diabetes: An Etiologic Clue for the Adult Diabetologist

Canadian Journal of Diabetes, 2019

a Section of Endocrinology, Department of Internal Medicine, University Hospital Split, Split, Croatia b The Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom Department of Endocrinology, Department of Internal Medicine, University Hospital Zagreb, Zagreb, Croatia d Section of Endocrinology, Department of Internal Medicine, University Hospital Osijek, Osijek, Croatia e Exeter NIHR Clinical Research Facility, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom f Section of Neuroendocrinology, Department of Pediatrics, University Hospital Split, Split, Croatia

A rare cause of chronic hyponatremia in an infant: Answers

Pediatric Nephrology, 2019

Detection of some metabolic disorders in suspected neonates admitted at Assiut University Children Hospital

Egyptian Journal of Medical Human Genetics, 2019

Background Inborn errors of metabolism are genetically inherited diseases which can lead to accumulation of toxic metabolites in the body. Inborn errors of metabolism have a high morbidity and mortality in neonates. Many inborn errors of metabolism are amenable to treatment with early diagnoses. Till now, more than 500 metabolic disorders have been detected. Although individual metabolic disorders are rare, the incidence of overall metabolic disorders is high. Results It was found that 70/200 cases (35 %) had confirmed inborn errors of metabolism, and another 8 cases (4%) suspected to have inborn errors of metabolism; 15/200 (7.5%) cases had mild elevation of phenylalanine level, while 107/200 (53.5%) had another diagnosis rather than metabolic disorders. Urea cycle defect was diagnosed in 20/70 (28.5%), maple syrup urine disease in 18/70 (25.7%), organic acidemia in 15/70 (21.4%), and non-ketotic hyperglycinemia in 1/70 (1.4 %) case. Also, 15/70 (21.4 %) cases had fatty acid oxidat...

Neonatal transient hypothyroidism: aetiological study

Archives of Disease in Childhood - Fetal and Neonatal Edition, 1998

Aims-To define the aetiology of neonatal transient hypothyroidism (NTH) and recommend preventive measures. Methods-Maternal and perinatal clinical data on the use of antiseptics, drugs, and contrast agents containing iodine were collected from 40 subjects. Thyroid stimulating hormone (TSH), free thyroxine (FT4), thyroxine (T4), thyroglobulin (TG), TSH receptor antibodies, thyroid peroxidase antibodies and urinary iodine were measured in random neonatal samples. In the mothers with known or suspected thyroid disorders, TSH, FT4, TSH receptor antibodies and thyroid peroxidase antibodies were also measured. Results-The NTH aetiology was identified in 85% of cases. More than 50% of the babies with transient hypothyroidism had been exposed to iodine; maternal transfer of antibodies had occurred in a third of them. Conclusions-It is suggested that the practice of using iodine containing disinfectants should be withdrawn, and chlorhexidine substituted instead; that pregnant women should be advised of the adverse eVects of using iodine products; and that thyroid function should be monitored whenever iodine is used.

Neonatal Endocrinologic Problems in Collodion Babies

Pediatric dermatology, 2017

To identify endocrinologic problems, particularly those concerning growth, in collodion babies (CBs). Clinically identified newborn CBs were included in the study group (group 1). Because CBs are generally born premature, small for gestational age (SGA), or both, a control group matched to the study group in terms of gestational age and birthweight (group 2) was also established. Blood specimens were collected from both groups for thyroid function tests and to measure serum growth hormone (GH), insulinlike growth factor 1 (IGF-1) and IGF binding protein-3 (IGFBP-3) levels. Group 1 consisted of 42 CBs (25 male, 17 female) with gestational ages of 32 to 42 weeks and birthweights of 1,400 to 4,000 g. Twelve were assessed as premature and 17 as SGA. Serum IGF-1 and IGFBP-3 levels were lower and serum GH levels higher than in controls. Primary hypothyroidism was diagnosed in 10 patients in the study group, subclinical hypothyroidism in 2, and central hypothyroidism in 1. A statistically ...

Transient neonatal diabetes or neonatal hyperglycaemia: A case report

Nigerian Journal of Paediatrics, 2013

Transient neonatal diabetes and neonatal hyperglycaemia both present in the neonatal period with features of hyperglycaemia, dehydration and weight loss. Differentiating these conditions clinically is difficult. We describe the case of a 13 day old female whom we managed recently who could have had either condition. Hyperglycaemia is not as commonly documented as would be expected for the frequency of neonatal disease and when it does occur, it will worsen neonatal morbidity and mortality. Blood glucose levels in babies ondextrose infusion should be monitored regularly in order to help individualiseglucose requirements.