hrp0082p3-d3-809 | Gonads and Gynaecology | ESPE2014

Three Siblings with Gonadal Dysgenesis

Dursun Fatma , Kirmizibekmez Heves

Background: Gonadal dysgenesis in female is defined as absent or insufficient development of ovaries. The patient with gonadal dysgenesis presents with primary amenorrhea and lack of development of secondary sexual characteristics. The patterns of inheritance is thought to be autosomal recessive.Case 1: A fourteen and half year-old-girl, presented with delayed puberty. She was born from consanguineous parents. Pelvic ultrasonography revealed streak ovari...

hrp0086p2-p74 | Adrenal P2 | ESPE2016

Cholestasis and Hypercalcemia Secondary to Panhypopituitarism in a Newborn

Dursun Fatma , Gerenli Nelgin , Kirmizibekmez Heves

Cholestatic hepatitis and hypercalcemia are rare features of hypopituitarism in the newborn. So diagnosis of hypopituitarism is frequently delayed. Herein, we report a newborn that was investigated for cortisol deficiency and other pituitary hormone deficiencies and diagnosed with panhypopituitarism upon detection of cholestasis after referral to the endocrinology department for hypercalcemia, a very rare sign of cortisol deficiency. It is unclear which hormone causes cholesta...

hrp0084p3-825 | Endocrine Oncology | ESPE2015

GH and Prolactin Secreting Adenoma in an Adolescent Boy

Dursun Fatma , Kirmizibekmez Heves , Dagcinar Adnan

Background: Pituitary gigantism is a rare disorder. Paediatric endocrinologists may see at most one or two patients during their careers. In one large series of 2367 children and adolescents with pituitary adenomas, only 15 (0.6%) had pituitary gigantism. Much of our understanding is derived from isolated case reports and extrapolation from the adult literature. No sex predilection is known. Gigantism may occur at any age, and has been observed as early as the first 6–9 m...

hrp0084p3-1153 | Puberty | ESPE2015

Effects of Nutrition and Vitamin D Deficiency on Central Puberty Precocious

Bayraktar Hatice Asli , Kirmizibekmez Heves , Koksal Eda

Background: Puberty is a dynamic period of physical growth. Genetic factors, increasing prevalence of adiposity, environmental factors and the widespread presence of endocrine-disrupting chemicals are suspected to contribute to the trend of earlier pubertal onset.Method: The study group consists of 32 girls diagnosed with central puberty precocious. The eating habits and physical activity status were evaluated with a detailed questionnaire. Daily calorie...

hrp0082p3-d3-695 | Bone (2) | ESPE2014

Clinical Effects of Vitamin D in Asthma

Dogru Mahmut , Kirmizibekmez Heves , Mutlu Gul Yesiltepe , Aktas Alev

Background: In both asthma and vitamin D deficiency is common. The results from studies examining the relationship between them is contradictory.Objective and hypotheses: The aim of this study was to investigate the relationship vitamin D levels and clinical parameters of asthma in children.Method: One hundred twenty children with asthma, followed up in Pediatric Allergy and Immunology Department were included. Seventy-four childre...

hrp0084p3-1019 | Growth | ESPE2015

Laron Syndrome Caused by a Large Deletion in GH Receptor Gene

Mutlu Gul Yesiltepe , Kirmizibekmez Heves , Arman Ahmet , Hatun Sukru

Background: Laron syndrome, which is characterised with GH insensitivity, is caused by mutations of GH receptor (GHR). GHR, consisting of nine exons, is located on 5th chromosome. Typical findings of this syndrome are immature facial appearance, prominent forehead and eyes, depressed nasal bridge, low IGF1 and IGFBP3 levels which do not increase with IGF-generation test.Case report: A 4-year and 3-month old boy was admitted because of growth retardation....

hrp0084p3-1130 | Puberty | ESPE2015

Clinical Features and Pubertal Timing in Girls with Premature Adrenarche

Celik Sevinc , Kirmizibekmez Heves , Mutlu Rahime Gul Yesiltepe , Yildiz Feyza

Background: Premature adrenarche is defined as the development of axillary and/or pubic hair in association of the DHEA-S concentrations >108.4 nmol/l (40 μg/dl) before the age of eight in girls.Objective and hypotheses: This retrospective study aimed to investigate the clinical presentation, metabolic status, growth velocity and pubertal timing of girls with premature adrenarche.Method: Medical records of 117 patients wer...

hrp0082p2-d3-555 | Puberty and Neuroendocrinology (2) | ESPE2014

Tamoxifen-Induced Hirsutism: an Unusual Side Effect in a 5 Years Old Girl with Mccune–Albright Syndrome

Kirmizibekmez Heves , Mutlu Rahime Gul Yesiltepe , Dursun Fatma , Isguven Sukriye Pinar

Background: McCune–Albright syndrome is a rare disorder defined as the triad of peripheral precocious puberty, café-au-lait skin pigmentation and fibrous dysplasia of bone, caused by mutation of the gene GNAS1, resulting in autonomous endocrine hormone excess.Objective and hypotheses: This is the first pediatric case of hirsutism due to tamoxifen, a selective estrogen receptor modulator.Case report: A 53/12 yea...

hrp0082p3-d3-788 | Fat Metabolism & Obesity (2) | ESPE2014

Erythrocyte Sedimentation Rate and CRP Levels in Childhood Obesity

Ersu Dilek Ozcelik , Seren Lale , Mutlu Rahime Gul Yesiltepe , Kirmizibekmez Heves

Background: Childhood obesity is one of the most important public health problems at 21st century. Obesity is an inflammatory process that leads to the impairment of health. Increasing prevalence of obesity will be a worldwide problem in the next generation, leading to serious health care and economical burden.Objective and hypotheses: The aim of this study was to investigate the relationship between childhood obesity and erythrocyte sedimentation rate a...

hrp0082p3-d3-847 | Growth (2) | ESPE2014

Multiple Endocrinopathies in a Case with H Syndrome due to a Novel slc29a3 Mutation

Mutlu Gul Yesiltepe , Kirmizibekmez Heves , Ozsu Elif , Zlotogorski Abraham , Hatun Sukru

Background: H syndrome (OMIM #602783) is an autosomal recessive syndrome resulted from mutations in the SLC29A3 gene, encoding hENT3 protein. Characteristic findings are cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hypogonadism, hyperglycemia/diabetes mellitus, cardiac anomalies, hallux valgus and short stature. Herein we report a girl with multiple endocrinopathies due to H syndrome.Case: Ten year and 5 month old girl was referred be...