Journal of Clinical Research in Pediatric Endocrinology
1.5
Impact Factor
2.8
CiteScore
1.9
5-Year Impact Factor
Case Report
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
Case Report
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
Case Report
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
Case Report
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
Case Report
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
Case Report
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
Case Report
Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review
Lele Li, Chunxiu Gong
Case Report
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
Case Report
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
Case Report
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
Case Report
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
Case Report
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
Case Report
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
Case Report
A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome
Duygu Çetinkaya, Gönül Büyükyılmaz, Esra Kılıç
Case Report
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
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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