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Unusual presentation and management of parathyroid carcinoma with pulmonary metastasis: a case report.
AME Case Rep
October 2024
Division of Otolaryngology, Head and Neck Surgery, Department of Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, SAU.
Background: Parathyroid carcinoma is a rare and challenging malignancy, often confirmed by histopathological analysis. Due to its rarity, it can present in atypically. We present a case of parathyroid carcinoma with an unusual course of pulmonary metastasis emphasizing the complexities of its diagnosis and management.
View Article and Find Full Text PDFEstablishing the Cut-Off Values of 17-Hydroxyprogesterone for Diagnosing Congenital Adrenal Hyperplasia: A Prospective Observational Study in a Tertiary Care Hospital.
Cureus
December 2024
Central Research Service, Bharati Vidyapeeth (Deemed to be University) Medical College, Pune, IND.
Introduction Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder primarily caused by 21-hydroxylase enzyme deficiency, impairing cortisol synthesis and resulting in elevated androgen levels. CAH presents in two classical forms: salt-wasting (SW) and simple virilizing (SV). Although CAH is rare in India, regional variations and the absence of a national newborn screening (NBS) program pose significant challenges to accurate diagnosis.
View Article and Find Full Text PDFThe metabolic landscape of tetrahydrobiopterin metabolism disorders in the Republic of Ireland.
Mol Genet Metab Rep
March 2025
National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, Dublin, Ireland.
We present a case series of seven patients (5 males, 2 females, aged 7-38 yrs.) in Ireland with biopterin metabolism disorder. Five individuals had been diagnosed with dihydropteridine reductase (DHPR) deficiency and two with pyruvoyl tetrahydropterin synthase (PTPS) deficiency.
View Article and Find Full Text PDFIsolated, severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus infection in a late preterm neonate.
BMJ Case Rep
January 2025
Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.
This case report presents a late preterm infant diagnosed with severe cerebellar hypoplasia and microcephaly secondary to congenital cytomegalovirus (cCMV) infection. Initially suspected to have Dandy-Walker malformation, postnatal MRI revealed significant cerebellar hypoplasia, without other typical cCMV findings. The diagnosis was confirmed by the presence of CMV in serum and urine.
View Article and Find Full Text PDFClinical Manifestations and Challenges in Adolescent and Adult Females With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
J Clin Endocrinol Metab
January 2025
Department of Women's and Children's Health, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a rare genetic condition that results in cortisol deficiency and excess production of adrenal androgens. While the introduction of newborn screening for CAH has reduced morbidity and mortality, management of CAH remains challenging. Lifelong treatment with glucocorticoids is required to replace the endogenous cortisol deficiency and reduce excess adrenal androgens.
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