Sisli Etfal Hastan Tip Bul
September 2024
Objectives: Current guidelines suggest that patients with cystic fibrosis (CF), who are over the age of 10, should be annually evaluated with oral glucose tolerance test (OGTT). In this study, it was aimed to evaluate the OGTT results in patients above the age of 10, who were followed up in our center with the diagnosis of CF.
Methods: In the study, 46 patients with CF at the age of 10 and above, who underwent OGTT were included.
Objectives: Central precocious puberty (CPP) is the onset of puberty before the age of 8 in girls and 9 in boys. The primary goal of CPP treatment is control and arrest of puberty development. In this study, it was aimed to determine the factors associated with final height in patients who received gonadotropin-releasing hormone analogs (GnRHa) treatment and reached their final height.
View Article and Find Full Text PDFAim: In this study, it was aimed to examine the clinical and laboratory findings that can be used to predict central precocious puberty (CPP) in cases whose breast development started before the age of 8.
Materials And Methods: The chronological age, anthropometric measurements, bone age (BA), hormone test results and pelvic ultrasonography findings of the cases were recorded. Those with a peak luteinizing hormone (LH) level of ≥5 IU/L in the gonadotropin-releasing hormone (GnRH) stimulation test were classified as CPP and those with a peak LH level of <5 IU/L were classified as prepubertal cases.
Introduction: The luteinizing hormone/choriogonadotropin receptor (LHCGR) plays a critical role in sexual differentiation and reproductive functions in men and women. Inactivating mutations in this gene lead to Leydig cell hypoplasia (LCH), and cause disorders of sex development (DSD) in patients with 46,XY. In this study, it was aimed to discuss the clinical, laboratory and molecular genetic analysis results of nine patients with 46,XY karyotype who had mutations in the LHCGR gene.
View Article and Find Full Text PDFAim: 17α-hydroxylase enzyme deficiency is a rare form of congenital adrenal hyperplasia (CAH) and is caused by mutations in the CYP17A1 gene. The main clinical findings are delayed puberty and primary amenorrhea in girls, and disorders of sex development in boys. It can also cause hypertension and hypokalemia in both genders.
View Article and Find Full Text PDFMinerva Endocrinol (Torino)
September 2021
Aim: There is no clear consensus on whether a cranial MRI should be performed in all cases of central precocious puberty(CPP). In this study, we aimed at evaluating the incidence of intracranial lesions and analyzing cranial imaging results in females with CPP.
Methods: In the retrospective study medical records of the case, the age at the time of admission, anthropometric measurements, bone age, Tanner stages, serum follicle-stimulating hormone (FSH), serum luteinizing hormone(LH), serum estradiol (E2) levels, the peak LH level during the gonadotropin-releasing hormone (GnRH) stimulation test and the cranial MRI findings at the time of the diagnosis of CPP were collected.
Purpose: To determine the effect of abnormal glucose metabolism on the cornea, lens, anterior chamber volume (ACV), and anterior chamber depth (ACD) in children with poorly-controlled type 1 diabetes mellitus (DM) without diabetic retinopathy (DR).
Methods: After the complete ophthalmologic examination of children with poorly-controlled (glycosylated hemoglobin [HbA1c] >7.0 %) type 1 DM without DR and age-matched healthy subjects (control group), the central corneal thickness (CCT), keratometry (K) values (Kmean front and back, and Kmax), radius (R) values (Rmin front and back), corneal volume (CV), ACD, ACV, pupil diameter, mean lens density (MLD), lens density standard deviation (LD SD), and maximum lens density (LD max) were measured using Pentacam High Resolution.
Gynecol Endocrinol
December 2020
Introduction: Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. The patients with LCH are usually in the female phenotype and are presented with the complaints of no breast development and primary amenorrhea. In this article, the cases of three siblings who presented with primary amenorrhea and who had LCH were presented.
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