Publications by authors named "Busra G Tosun"
Objective: 17β-Hydroxysteroid dehydrogenase 3 deficiency (17β-HSDD) and 5α-reductase type 2 deficiency (5α-RD) are rare 46,XY differences of sex development (DSD). This study aims to enlarge the limited knowledge on long-term gonadal function and gonadal pathology in these conditions.
Design: Retrospective multicentre cohort study.
Clinical and molecular genetic characteristics of patients with hereditary hypophosphatemia.
J Clin Endocrinol Metab
December 2024
Background: Hereditary hypophosphatemia (HH), is a rare condition related to decreased renal tubular phosphate reabsorption. Although X-linked hypophosphatemia or PHEX gene variant is the most frequent cause of HH, recent advances in next-generation sequencing (NGS) techniques enable the identification of genetic etiologies as a whole.
Objective: To identify genetic causes of HH using various genetic testing methods and to compare clinical features between FGF23-dependent and FGF23-independent HH groups.
Article Synopsis
- This study focuses on 17α Hydroxylase/17,20 Lyase Deficiency (17OHD), a rare form of adrenal hyperplasia, highlighting its clinical features such as delayed puberty and hypertension commonly diagnosed in late adolescence.
- Researchers analyzed data from 97 cases across the country, revealing that hypertension was present in 65% and hypokalemia in 34% of patients, with a significant number requiring antihypertensive treatment.
- The findings suggest that early diagnosis can be guided by hypertension and hypokalemia, while the final heights of patients generally fall within normal ranges, though the connection between genetic mutations and clinical outcomes remains unclear.
Background: Assessment of breast development by physical examination can be difficult in the early stages and in overweight girls.
Objective: To investigate ultrasonography (US) for evaluation of early breast development.
Materials And Methods: In a prospective study, 125 girls (age 7.
Although hypothalamo-pituitary-gonadal axis is active during mini-puberty, its relationship with somatic growth and the role on the development of external genitalia has not been fully elucidated. We aimed to evaluate the effects of somatic growth and reproductive hormones on the development of external genitalia during mini-puberty. Anthropometric data, pubertal assesment, serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), dehydroepiandrosterone sulfate (DHEAS), androstenedione (A4), sex-hormone binding globulin (SHBG), estradiol (E2) and inhibin-B, testosterone (T), and anti-Mullerian Hormone (AMH) of healthy infants aged 1-4 months were evaluated.
View Article and Find Full Text PDFObjectives: Central precocious puberty (CPP) develops as a result of early stimulation of the hypothalamic-pituitary-gonadal (HPG) axis. The loss-of-function mutations in the Makorin-ring-finger3 (MKRN3) gene appear to be the most common molecular cause of familial CPP. We aimed to identify MKRN3 gene mutations in our CPP cohort and to investigate the frequency of MKRN3 mutations.
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