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Kurnaz E.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Savas-Erdeve S.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Keskin M.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Dogan V.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | And 2 more authors.
Turkish Journal of Pediatrics | Year: 2016

The most common reason of acquired hypothyroidism is autoimmune (Hashimoto) thyroiditis. Autoimmune thyroiditis can be atrophic or goitrogenic. Atrophic autoimmune thyroiditis (ATT) related acquired hypothyroidism causes interruption of growth, obesity, and bone age retardation in early ages while goitrogenic thyroiditis has a higher incidence rate and mostly presents with diffuse goiter. We discuss the effects of hypothyroidism on various systems through a case found to have pericardial effusion during the echocardiography performed after cardiac murmur was detected and later diagnosed with ATT related hypothyroidism. © 2016, Turkish Journal of Pediatrics. All rights reserved.


Keskin M.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Muratoglu Sahin N.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Kurnaz E.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Bayramoglu E.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | And 3 more authors.
JCRPE Journal of Clinical Research in Pediatric Endocrinology | Year: 2017

The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of 1740 grams on the 39th week of gestation, with a birth length of 42 cm and no prior hereditary conditions of clinical significance in her family. On physical examination, her length was 67 cm [-3.6 standard deviation (SD) score], weight 7.2 kg (-2.9 SD score), and head circumference 42 cm (below 3rd percentile). She also had numerous characteristic physical features such as a triangular face, fleshy nose tip, a long philtrum, prominent mouth and lips, pointed chin, lumbar lordosis, and prominent heels. As her growth retardation had a prenatal onset and the physical examination results were suggestive of a characteristic profile, the diagnosis of 3M syndrome was strongly considered. Genetic assessment of the patient revealed a novel homozygous p.T45Nfs*40 mutation in the OBSL1 gene. It is recommended that physicians pay further attention to this condition in the differential diagnosis of children with severe short stature. © 2017 by Turkish Pediatric Endocrinology and Diabetes Society.


Savas-Erdeve S.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Sagsak E.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Keskin M.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Cetinkaya S.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Aycan Z.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital
Journal of Pediatric Endocrinology and Metabolism | Year: 2017

Background: Anti-Müllerian hormone (AMH) is produced by granulosa cells surrounding follicles that have undergone recruitment from the primordial follicle pool but have not been selected for dominance (preantral and early antral follicles). In healthy girls, serum levels of AMH vary considerably between individuals. We aimed to evaluate the AMH level in girls with premature thelarche (PT) and central precocious puberty (CPP). Methods: Girls with CPP (n = 21), PT (n = 24) and a control prepubertal group (n = 22) were included in the study. Results: AMH levels were significantly higher in the PT group than the prepubertal control group and similar to the CPP group. AMH levels in the CPP group were similar to the prepubertal control group. AMH levels showed a significant negative correlation with luteinizing hormone (LH), free testosterone and dehydroepiandrosterone sulphate (DHEAS) levels in the PT group. AMH levels were negatively correlated with height standard deviation score (HSDS), body mass index (BMI) SDS values and positively correlated with sex hormone binding globulin (SHBG) levels in the CPP group. These levels were positively correlated with SHBG levels in the control prepubertal group. Conclusions: Serum AMH levels in girls with PT was found to be higher than in prepubertal girls. AMH levels in the CPP group were not different compared with the PT and control groups. © 2017 Walter de Gruyter GmbH, Berlin/Boston.


Keskin M.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Savas-Erdeve S.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Ozbay-Hosnut F.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Kurnaz E.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | And 2 more authors.
Turkish Journal of Pediatrics | Year: 2016

Hashimoto thyroiditis (HT) is the most common pediatric autoimmune endocrine disorder. It results in autoimmune-mediated thyroid gland destruction and is an organ-specific, typical autoimmune disease. The presence of antithyroid antibodies and the typical pattern on ultrasonography indicate the diagnosis. It is also frequently seen together with other autoimmune disorders including type 1 insulin-dependent diabetes, celiac disease, alopecia and vitiligo. Autoimmune hepatitis (AIH) is a chronic type of liver injury with an immune etiology that can frequently cause end-stage liver disease if left untreated. Autoimmune hepatitis patients may present with hepatitis, and the laboratory tests in the absence of other etiology usually reveal a positive immune serology together with elevated immunoglobulins and abnormal liver histology. It is interesting that HT and AIH are rarely seen together although both have an autoimmune etiology. A 14-year-old male who was being followed-up for vitiligo presented with symptoms of a swelling at the neck and fatigue. He was diagnosed with HT after the tests and the liver enzymes were found to be high. The patient was also diagnosed with AIH after tests revealed that the liver enzyme elevation had continued for longer than six months. The thyroid functions and liver enzymes returned to normal and the symptoms decreased after sodium L-thyroxine replacement together with steroid and azathioprine treatment. We present this case as we believe it is the first pediatric patient diagnosed with HT, AIH and vitiligo. © 2016, Turkish Journal of Pediatrics. All rights reserved.


Savas-Erdeve S.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Sagsak E.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Keskin M.,Dr Sami Ulus Obstetrics And Gynecology And Pediatrics Training And Research Hospital | Magdelaine C.,Laboratoire Of Biochimie Genetique Moleculaire | And 4 more authors.
Journal of Pediatric Endocrinology and Metabolism | Year: 2016

The calcium sensing receptor (CASR) is expressed most abundantly in the parathyroid glands and the kidney. CASR regulates calcium homeostasis through its ability to modulate parathormone secretion and renal calcium reabsorption. Inactivating mutations in the CASR gene may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcemia (FBHH) and neonatal severe hyperparathyroidsm (NSHPT). Two cases were referred with severe hypercalcemia in the neonatal period. Laboratory evaluation revealed severe hypercalcemia and elevated PTH. The parents also had mild hypercalcemia. The serum calcium level did not normalize with conventional hypercalcemia treatment and there was also no response to cinacalcet in case 1. Total parathyroidectomy was performed when the patient was 70 days old. Genetic analysis revealed a novel homozygous p.Arg544∗ mutation in the CASR gene. Case 2 underwent total parathyroidectomy and autoimplantation when she was 97 days old, but the parathyroid gland implanted into the forearm was removed 27 days later because the hypercalcemia continued. Genetic evaluation revealed a novel homozygous p.Pro682Leu mutation with normal anthropometric measurements. The neurological development is consistent with age in both cases while case 2 has mild mental retardation. No bone deformity or fracture is present in either case and normocalcemia is ensured with calcitriol in both cases. © 2016 Walter de Gruyter GmbH, Berlin/Boston 2016.

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