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A case report of neonatal diabetes due to neonatal hemochromatosis.

https://arctichealth.org/en/permalink/ahliterature96255
Source
J Pediatr Endocrinol Metab. 2010 May;23(5):521-4
Publication Type
Article
Date
May-2010
Author
Semra Cetinkaya
Benal Kunak
Cengiz Kara
Fulya Demirçeken
Nese Yarali
Emine Polat
Zehra Aycan
Author Affiliation
Clinics of Pediatric Endocrinology, Dr. Sami Ulus Children's Hospital, Ankara, Turkey. semcetinkaya@gmail.com
Source
J Pediatr Endocrinol Metab. 2010 May;23(5):521-4
Date
May-2010
Language
English
Publication Type
Article
Abstract
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
PubMed ID
20662354 View in PubMed
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Hyperinsulinemic hypoglycemia: experience in a series of 17 cases.

https://arctichealth.org/en/permalink/ahliterature107021
Source
J Clin Res Pediatr Endocrinol. 2013 Sep 10;5(3):150-5
Publication Type
Article
Date
Sep-10-2013
Author
Sebahat Yilmaz Agladioglu
Senay Savas Erdeve
Semra Cetinkaya
Veysel Nijat Bas
Havva Nur Peltek Kendirci
Asan Onder
Zehra Aycan
Author Affiliation
Dr. Sami Ulus Training and Research Children's Hospital, Clinics of Pediatric Endocrinology, Ankara, Turkey. E-mail: sebahatyilmaz@yahoo.com.
Source
J Clin Res Pediatr Endocrinol. 2013 Sep 10;5(3):150-5
Date
Sep-10-2013
Language
English
Publication Type
Article
Keywords
Child
Child, Preschool
Developmental Disabilities - etiology
Diazoxide - therapeutic use
Epilepsy - etiology
Female
Humans
Hyperinsulinism - complications - drug therapy
Hypoglycemia - complications - drug therapy
Infant
Infant, Newborn
Intellectual Disability - etiology
Male
Retrospective Studies
Abstract
Hyperinsulinemic hypoglycemia (HIH) is a genetically heterogeneous disorder with both familial and sporadic variants. Patients with HIH may present during the neonatal period, infancy, or childhood and may show transient, prolonged, and persistent features. In this study, we aimed to discuss our experience with HIH patients, based on a series of 17 patients.
We retrospectively analyzed the clinical and laboratory characteristics at the time of diagnosis and during treatment and evaluated the neurodevelopmental outcomes during follow-up in 17 HIH patients, who presented or were referred to the Pediatric Endocrinology Clinic of Dr. Sami Ulus Training and Research Children's Hospital between 1998 and 2011. The patients (7 male, 10 female) were aged between the first day of life and 7 years - 10 were in their first week of life, 6 in their infancy, and 1 in childhood.
None of the mothers had gestational diabetes. Hypoglycemic seizure (76.5%) was the most common presenting symptom. Medical treatment failed in two patients, and was stopped in eight patients. Of two diazoxide-unresponsive patients, one underwent near-total pancreatectomy, but hypoglycaemic episodes continued after surgery. The parents of other patient refused surgery, the medical treatment was continued, nevertheless, severe motor and mental retardation developed. At follow-up, 23.5% of the patients were found to have mild or moderate psychomotor retardation, and 23.5% developed epilepsy. There was no marked difference in neurological results between cases with onset in the neonatal period or in infancy.
Clinical course and treatment response in HIH cases are very heterogeneous. Long-term careful monitoring is needed to detect and treat the complications.
Notes
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PubMed ID
24072082 View in PubMed
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A new variant of a known mutation in two siblings with permanent neonatal diabetes mellitus.

https://arctichealth.org/en/permalink/ahliterature101283
Source
J Pediatr Endocrinol Metab. 2011;24(5-6):373-5
Publication Type
Article
Date
2011
Author
Zehra Aycan
Semra Cetinkaya
Serife Suna Oguz
Serdar Ceylaner
Author Affiliation
Dr Sami Ulus Obstetrics and Gynecology, Children's Health and Disease Training and Research Hospital, Ankara, Turkey.
Source
J Pediatr Endocrinol Metab. 2011;24(5-6):373-5
Date
2011
Language
English
Publication Type
Article
Abstract
Permanent neonatal diabetes mellitus is a rare disorder usually presenting within the first few weeks or months of life. This disorder is genetically heterogeneous and has been associated with mutations in various genes. The genetic cause remains mostly unknown although several genes have been linked to this disorder. Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50%-60% of the patients. With genetic studies, we hope to increase our knowledge of neonatal diabetes, whereby new treatment models can become possible. Here, we defined a new variant of a known mutation, INS Exon 1-3 homozygous deletion, in two siblings diagnosed with permanent neonatal diabetes mellitus.
PubMed ID
21823539 View in PubMed
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Testicular adrenal rest tumor in a patient with 11beta-hydroxylase deficient congenital adrenal hyperplasia.

https://arctichealth.org/en/permalink/ahliterature100392
Source
J Pediatr Endocrinol Metab. 2010 Jul;23(7):729-32
Publication Type
Article
Date
Jul-2010
Author
Gülsüm Iclal Bayhan
Semra Cetinkaya
Hasibe Gökçe Cinar
Zehra Aycan
Author Affiliation
Dr Sami Ulus Women-Child Health Education and Research Hospital Kurtulus, Ankara, Turkey.
Source
J Pediatr Endocrinol Metab. 2010 Jul;23(7):729-32
Date
Jul-2010
Language
English
Publication Type
Article
Keywords
Adolescent
Adrenal Hyperplasia, Congenital - complications
Adrenal Rest Tumor - etiology - pathology - ultrasonography
Humans
Male
Testicular Neoplasms - etiology - pathology - ultrasonography
Abstract
In patients with congenital adrenal hyperplasia, testicular adrenal hyperplasia and tumors can develop. A three-year-old boy was admitted to our hospital with complaints of enlarged penis and development of pubic hair. 11beta-hydroxylase deficient congenital adrenal hyperplasia was diagnosed and hydrocortisone treatment was started. His family did not accept treatment well and did not come for check-ups regularly, which is why his metabolic control was poor. In ultrasonographic evaluation, a hypoechoic mass, 10x10 mm in size, was detected in his left testis at 15 years of age and steroid dose was increased. Almost two years later the tumor completely disappeared with high dose steroid treatment. In conclusion, the monitoring of congenital adrenal hyperplasia with ultrasonography is recommended, especially in puberty, because it is important that testicular adrenal rest hyperplasia should be determined before testicular adrenal rest tumors develop. In this case we observed that small testicular adrenal rest tumors disappeared completely with high dose steroid treatment in nearly two years.
PubMed ID
20857846 View in PubMed
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