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Identification of a novel missense variant in the gene in a Japanese pedigree with familial neurohypophyseal diabetes insipidus.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, Ogaki Municipal Hospital, Ogaki, Japan.
Familial neurohypophyseal diabetes insipidus is a rare genetic disease caused by gene variants and is characterized by progressive polyuria and polydipsia in early childhood. Herein, we have reported the clinical symptoms and genetic test results of a Japanese patient with a family history of polyuria and polydipsia for over five generations. The proband was a 6-yr-old boy who was referred for the evaluation of polyuria and polydipsia.
View Article and Find Full Text PDFPatients with a Wide Range of Disorders Related to Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.
Genes (Basel)
December 2024
Department of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213 Lodz, Poland.
-spectrum disorders are caused by a mutation in the gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic optic atrophy (OA), and isolated congenital cataracts. The aim of this study was to evaluate genotype-phenotype correlations in Polish patients with -spectrum disorders.
View Article and Find Full Text PDFRadiation therapy for childhood-onset craniopharyngioma: systematic review and meta-analysis.
J Neurooncol
January 2025
Department of Endocrinology, Genetics and Metabolism, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, 100045, China.
Background: Craniopharyngioma (CP), a benign tumor originating from remnants of Rathke's pouch in the sellar region, accounts for approximately 30% of all cases of craniopharyngioma. Radiation therapy has been used to treat CP patients for decades; however, there is still a lack of systematic reviews on the long-term tumor control outcomes in pediatric CP patients treated with external radiation therapy.
Methods: We conducted a comprehensive search of multiple databases for studies on the tumor progression rates of childhood-onset CP(COCP) patients who received external radiotherapy.
Central Diabetes Insipidus in Acute Myeloid Leukemia with Cytogenetic Abnormality of 9q34 Deletion.
Oman Med J
July 2024
Division of Endocrinology, Tawam Hospital, Al Ain, UAE.
Acute myeloid leukemia (AML) is rarely associated with central diabetes insipidus (CDI) with unclear underlying pathophysiological mechanisms. The most commonly reported cytogenetic abnormality in cases of AML-associated CDI is monosomy 7, followed by chromosome 3 abnormalities. We report a case of a woman with newly diagnosed AML with 9q34 deletion ( gene region), who developed symptoms of polyuria and polydipsia with an investigation confirming CDI.
View Article and Find Full Text PDFUnveiling Langerhans cell histiocytosis presenting as hidradenitis suppurativa: A case report and systematic review.
Int J Surg Case Rep
December 2024
Skull Base Research Center, Loghman-Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:
Introduction And Importance: Langerhans cell histiocytosis (LCH) is a rare disorder characterized by the proliferation of abnormal Langerhans cells, often presenting with symptoms that mimic common dermatological conditions such as hidradenitis suppurativa (HS). Accurate diagnosis is essential because LCH can affect multiple organ systems and necessitates distinct therapeutic approaches.
Case Presentation: We report a rare case of a 39-year-old male with a 7-year history of diabetes insipidus (DI), who presented with polyuria, polydipsia, and enlarging purulent lesions in the axilla and groin.
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