Journal of Clinical Research in Pediatric Endocrinology
E-ISSN: 1308-5735 ISSN: 1308-5727
Case Report
A Rare Presentation of 17α-Hydroxylase/17,20-Lyase Deficiency in a Patient with Non-Hodgkin’s Lymphoma: A Case Report
Niran Tekkeli
İlknur Kurt
Nevin Yalman
Çetin Timur
Şenol Demir
Elif Sağsak
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Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl
Han-Yi Lin
Ni-Chung Lee
Meng-Ju Melody Tsai
Ting-Ming Wang
Yi-Ching Tung
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Hereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One Family
Katarzyna Pasternak-Pietrzak
Agata Kozłowska
Elżbieta Moszczyńska
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A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome
Duygu Çetinkaya
Gönül Büyükyılmaz
Esra Kılıç
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A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report
Ozge Bayrak Demirel
Esin Karakilic-Ozturan
Tugba Atci
Sule Ozturk Sari
Can Baykal
Asli Derya Kardelen
Melek Yildiz
Sukran Poyrazoglu
Firdevs Bas
Feyza Darendeliler
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Unraveling a Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies?
Sirmen Kızılcan Çetin
Zeynep Şıklar
Zehra Aycan
Elif Özsu
Serdar Ceylaner
Merih Berberoğlu
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Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature
Tugce Kandemir
Esin Karakilic Ozturan
Ozlem Dural
Ayca Dilruba Aslanger
Elif Inan Balci
Aysel Bayram
Semen Onder
Asli Derya Kardelen
Melek Yildiz
Sukran Poyrazoglu
Firdevs Bas
Feyza Darendeliler
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Permanent Neonatal Diabetes with High Insulin Requirements due to a New Variant in the INS Gene
Johana Andrea Botero Hernández
Gina González-Valencia
Vanessa Suarez
Gabriel del Castillo
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A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-reductase Type 2 Deficiency
Peng Zhou
Juanjuan Lyu
Xiaomei Sun
Ying Liu
Chuanjie Yuan
Jin Wu
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A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism due to a Novel Homozygous Variant in the SCNN1B Gene
Berna Singin
Zeynep Donbaloğlu
Ebru Barsal Çetiner
Kürşat Çetin
Nurten Özkan Zarif
Kıymet Çelik
Ercan Mıhçı
Özden Altıok Clark
Hale Tuhan
Mesut Parlak
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Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review
Lele Li
Chunxiu Gong
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Cabergoline Induced Pathological Gambling in an Adolescent with Prolactinoma
Ummahan Tercan
Ezgi Sarban
Melek Yıldız
Özlem Nida Erbaşı
Mine Özkan
Aslı Derya Kardelen
Şükran Poyrazoğlu
Firdevs Baş
Feyza Darendeliler
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Atypical Presentation of New Onset Diabetes with Hyperglycemic Hyperosmolar State in Two Toddlers
Alina Haque
Esther E. Bell-Sambataro
Foram Patel
Leena Mamilly
Kathryn Obrynba
Jennifer M. Ladd
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Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma
Ülkü Gül Şiraz
Deniz Koçak Göl
Meino Rohlfs
Christoph Klein
Ekrem Ünal
Nihal Hatipoğlu
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Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder
Berna Singin
Zeynep Donbaloğlu
Ebru Barsal Çetiner
Aynur Bedel
Kürşat Çetin
Belgin Akcan Paksoy
Tarkan Kalkan
Halide Akbaş
Hale Ünver Tuhan
Mesut Parlak
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Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report
Patrick Rizzuto
Mariam Gangat
Ahmed Khattab
Ian Marshall
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