Critical Points in the Management of Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diagnosed as PHA-1 who had clinical and laboratory findings compatible with the diagnosis and had genetically proven autosomal recessive PHA-1. The patient received high doses of sodium supplementation and potassium-lowering therapies; however, several difficulties were encountered in the management of this case. The aim of this presentation was to point out the potential pitfalls in the treatment of such patients in the clinical practice and to recommend solutions

A Giant Ovarian Cyst in a Neonate with Classical 21-Hydroxylase Deficiency with Very High Testosterone Levels Demonstrating a High-Dose Hook Effect

Congenital adrenal hyperplasia (CAH) is a group of disorders affecting the adrenal steroid synthesis. The most common form, 21-hydroxylase deficiency (21-OHD), leads to decreased production of cortisol and aldosterone with increased androgen secretion. In classic CAH, glucocorticoid treatment can be life-saving and serves to bring the symptoms under control. However, the treatment challenge is to effectively control the excess androgen effect by using the lowest possible glucocorticoid dose. Previous studies suggested a relationship between ovarian cyst formation and adrenal androgen excess, but neonatal large ovarian cysts have been very rarely reported in newborns with CAH. Here, we present the unique case of a neonate with classical 21-OHD who underwent surgery for a giant (10x8x7 cm) unilateral solitary ovarian follicular cyst on the 2nd postnatal day. Hormonal evaluation of the patient revealed high-dose hook effect for serum testosterone levels for the first time by a two-site immunoradiometric assay. Possible mechanisms by which androgen excess may cause ovarian cyst formation are discussed. Conflict of interest:None declared

Neonatal Adrenal Insufficiency: Turkish Neonatal And Pediatric Endocrinology And Diabetes Societies Consensus Report

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/m2 or a glucocorticoid drug at an equivalent dose should be initiated. In maintanence treatment, the physiological secretion rate of hydrocortisone is 6 mg/m2/day (15 mg/m2/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 long-term follow-up, patients should carry an identification card and the glucocorticoid dose should be increased 3-10-fold in cases of stress.PubMedScopu

The long-term impacts of preterm birth and associated morbidities on bone health in preschool children: a prospective cross-sectional study from Turkey

Objective: To evaluate the impact of preterm birth on bone health in preschool children. Methods: A total of 166 preschool children (aged 7-8 years) born preterm (n = 86, = 37 weeks of gestation) in our hospital were included in this prospective cross-sectional study. Data on antenatal, perinatal, and early postnatal characteristics and maternal obstetric history were obtained from medical records. Bone densitometry data including total bone mineral content (BMC), bone mineral density (BMD; total, lumbar, and femoral), z-scores, and bone loss were collected for each participant. Results: Current height, weight, and BMI values were significantly lower in the preterm group (p < .001). Serum calcium, phosphorus and alkaline phosphatase (ALP) levels did not differ among groups, whereas VitD3 levels were significantly higher in the preterm group (p = .039). The mean total BMC, total BMD, lumbar (L2-L4) BMD, femur BMD, total z-score, and L2-L4 z-score values were significantly lower for the preterm group, whereas the total, lumbar, and femoral bone loss were significantly higher (p < .001), regardless of the severity of prematurity. Intraventricular hemorrhage (IVH) and retinopathy were significantly associated with lower total BMC (p = .004, p = .012, respectively). Fortified breastfeeding was associated with lumbar bone loss (p = .043), and formula feeding was associated with both femur and lumbar bone loss (p = .006, p = .012, respectively). Conclusions: Our findings revealed long-term adverse effects of preterm birth on bone health, with significantly lower anthropometric values (weight, height, and BMI), lower scores for total BMC, BMD (total, lumbar, femoral), and z-scores (total, femur), along with higher bone loss (total, lumbar, femoral) and higher rates of osteopenia and osteoporosis in preschool children born preterm (whether moderate or very preterm) compared with those born at term. Exclusive breastfeeding appears to reduce the likelihood of long-term bone loss in preterm infant

Coping with Institutional and Financial Crises in the Sixteenth and Seventeenth Centuries: Ensuring the Survival of Ottoman Royal Waqfs

The Ottoman Empire had inherited the waqf (charitable foundation) as an institutionalized form of charity from the Near Eastern Islamic states, which had preceded it. Over time, new forms of charitable foundations emerged, while with the expansion of the Empire, waqfs grew in number and spread geographically. Donors created over fifty thousand charitable foundations, making them into the most widespread institution in Ottoman history. Some waqfs, the largest ones in particular, survived for many centuries. However, sometimes continued functioning was under severe threat, due to wars, epidemics, natural disasters, and rebellions. To overcome financial straits, the waqfs resorted to a variety of measures. Occasionally, a royal waqf in difficulty received assistance from other foundations established by sultans and/or their relatives. Administrators reduced current expenditures, sometimes even suspending salaries and charitable services. Moreover, through long-term lease contracts involving substantial down payments by the lessees, waqf administrators often raised the money needed to restore damaged properties. In the present paper, we study Ottoman royal waqfs when exposed to adversities and financial hardships. As administrators reacted with considerable flexibility, the claim that the waqfs were rigid institutions is in obvious need of revision