Yazar "Aycan, Zehra" seçeneğine göre listele

Listeleniyor 1 - 2 / 2
  • Küçük Resim
    Öğe
    Proximal hypospadias and 46XY disorder of sex development; which patient with hypospadias needs to be investigated?
    (2021) Bayramoglu, Elvan; Bas, Veysel Nijat; Aycan, Zehra
    Aim: This study examines the distribution of genital abnormalities based on physical examination of our patients with 46, XY disorders of sex development (46, XY DSD), and aims to define severity and frequency of hypospadias in 46, XY DSD. Hypospadias is a relatively prevalent congenital anomaly. Although genetic, environmental and hormonal factors are considered to be responsible, etiology is not clarified in several hypospadias cases. Materials and Methods: Clinical, laboratory and genetic records of all cases with 46, XY DSD, who were evaluated by the sex determination monitoring board were retrospectively reviewed. In the diagnosis, hypospadias cases were examined in terms of the place of hypospadias and coexisting other external genital findings. Results: There were 72 patients with 46, XY DSD. 5-α reductase deficiency [n=32 (44.4%)] was the most commonly encountered diagnosis followed by androgen insensitivity syndrome [n=26, (36.1%)]. Proximal hypospadias were presented in 44.4% (n: 32) of the cases and only 6 of them (18.8%) were isolated hypospadias. In 81.2% of these cases, at least one of the anomalies such as cordi, bifid scrotum, undescended testis and micropenis accompanied proximal hypospadias. None of the distal hypospadias cases were referral clinic finding. Conclusions: 46 XY DSD is a heterogeneous group of patients with a varying age of presentation and a diverse clinical profile. It can be stated that proximal hypospadias is the most common referral clinic finding of 46, XY DSD, and the risk of 46, XY DSD increases with the intensifying degree of hypospadias and the presence of coexisting genital abnormalities such as cordi, bifid scrotum, undescended testis and micropenis.
  • Küçük Resim Yok
    Öğe
    Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
    (Endocrine Soc, 2016) Guran, Tulay; Buonocore, Federica; Saka, Nurcin; Ozbek, Mehmet Nuri; Aycan, Zehra; Bereket, Abdullah; Bas, Firdevs
    Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c. IVS3ds + 1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future.