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Kutlu H.A.,Clinics of Pediatric Endocrinology | Akbiyik F.,Clinic of Pediatric Surgery
Turkish Journal of Medical Sciences | Year: 2011

Aim: The normative data for the newborn clitoral length will enable physicians to avoid overdiagnosing or underdiagnosing disorders related to the condition. The is study is the first to investigate clitoris length in newborn females in Turkey. Materials and methods: A total of 325 newborns with normal gestational age born by uncomplicated spontaneous vaginal delivery were included in the study. The body weight, body length, head circumference, and clitoral size were measured. Results: A special equation was generated to estimate clitoris length, and clitoral length percentiles were prepared. The 3rd (2.00 mm) and 97th percentile (8.04 mm) values for clitoris length were determined. The best cut-off point for cases where the labia majora covered the clitoris was determined. Conclusion: The equations and the percentile curves presented herein could be used as guides for expected clitoris length. Further studies, including larger measurement numbers, would enable the development of more sensitive equations and percentiles. © Tübitak.

Guran T.,Marmara University | Guran T.,University of Birmingham | Buonocore F.,University College London | Buonocore F.,Istanbul University | And 34 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2016

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 0i18 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.

Cetinkaya S.,Clinics of Pediatric Endocrinology | Kunak B.,Clinics of Pediatrics | Kara C.,Clinics of Pediatric Endocrinology | Demirceken F.,Clinics of Pediatric Gastroenterology | And 3 more authors.
Journal of Pediatric Endocrinology and Metabolism | Year: 2010

A 6-week-old girl, the first child of non-consanguineous parents, was admitted to the hospital for evaluation of vomiting. She was small for gestational age (1500 g). On admission, she weighed 1830 g, and appeared dehydrated. The blood glucose was 880 mg/dL. Insulin and C-peptide levels were <1 μIU/ml and 0.1 pmol/L, respectively. Antibodies of diabetes were negative. The serum triglyceride level was markedly elevated (5322 mg/dL). After a few days of insulin therapy, the triglyceride levels dramatically decreased, but cholestasis persisted. A liver biopsy revealed diffuse iron deposition and the diagnosis of neonatal hemochromatosis was established. In neonatal hemochromatosis, diabetes may occur as a result of iron deposition in the pancreas. The coexistence of neonatal diabetes secondary to neonatal hemochromatosis with a fatal course during the infancy period has not been previously reported. In this report, an infant with neonatal diabetes secondary to neonatal hemochromatosis is presented as the first case in the literature involving the coexistence of these two conditions. © Freund Publishing House Ltd.

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