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A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.
J Pediatr Endocrinol Metab
December 2024
Department of Pediatric Endocrinology, Stony Brook Children's Hospital, Stony Brook, NY, USA.
Article Synopsis
- - The study discusses a case of a male infant diagnosed with Adrenal Hypoplasia Congenita (AHC) due to a new genetic mutation, who exhibited signs of central precocious puberty (CPP) at 9 months old.
- - The patient initially presented with severe symptoms including hypothermia, weight loss, and was treated in the Pediatric Intensive Care Unit for adrenal crisis, leading to a confirmed diagnosis of AHC through genetic testing that revealed a specific mutation.
- - The conclusion highlights the rarity of CPP in AHC cases, suggesting that increased awareness among clinicians could enhance early detection and management of this puberty-related complication in affected infants.
Adrenal hypoplasia congenita and hypogonadotropic hypogonadism due to a novel NR0B1 (DAX1) gene mutation associated with common variable immunodeficiency and Hashimoto's thyroiditis.
Endokrynol Pol
October 2024
Clinic of Allergy and Immunology, University Clinical Center of Serbia, Faculty of Medicine University of Belgrade, Belgrade, Serbia.
Article Synopsis
- The text states that a Clinical Vignette is not mandatory for submission or evaluation.
- It implies that the absence of a Clinical Vignette will not negatively impact the overall assessment.
- This could suggest a focus on other components of a project or assignment that may hold greater importance.
[X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1 (DAX1): a case report].
Zhonghua Nei Ke Za Zhi
August 2024
Department of Endocrinology and Metabolism, West China Hospital, Sichuan University, Chengdu 610041, China.
Identification and involvement of DAX1 gene in spermatogenesis of boring giant clam Tridacna crocea.
Gene
June 2024
Key Laboratory of Tropical Marine Bio-resources and Ecology, Guangdong Provincial Key Laboratory of Applied Marine Biology, South China Sea Institute of Oceanology, Chinese Academy of Sciences, Guangzhou 510301, China; Hainan Key Laboratory of Tropical Marine Biotechnology, Hainan Sanya Marine Ecosystem National Observation and Research Station, Sanya 572024, China. Electronic address:
DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia congenital critical region on X chromosome gene 1), a key sex determinant in various species, plays a vital role in gonad differentiation and development and controls spermatogenesis. However, the identity and function of DAX1 are still unclear in bivalves. In the present study, we identified a DAX1 (designed as Tc-DAX1) gene from the boring giant clam Tridacna crocea, a tropical marine bivalve.
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