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, et al.
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, et al.
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
A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome
Duygu Çetinkaya, Gönül Büyükyılmaz, Esra Kılıç
A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report
Ozge Bayrak Demirel, Esin Karakilic-Ozturan, Tugba Atci, et al.
Unraveling a Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies?
Sirmen Kızılcan Çetin, Zeynep Şıklar, Zehra Aycan, et al.
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, et al.
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, et al.
A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-reductase Type 2 Deficiency
Peng Zhou, Juanjuan Lyu, Xiaomei Sun, et al.
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, et al.
Cabergoline Induced Pathological Gambling in an Adolescent with Prolactinoma
Ummahan Tercan, Ezgi Sarban, Melek Yıldız, et al.
Atypical Presentation of New Onset Diabetes with Hyperglycemic Hyperosmolar State in Two Toddlers
Alina Haque, Esther E. Bell-Sambataro, Foram Patel, et al.
Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma
Ülkü Gül Şiraz, Deniz Koçak Göl, Meino Rohlfs, et al.
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, et al.
Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case Report
Patrick Rizzuto, Mariam Gangat, Ahmed Khattab, et al.
