Objective: Virilization of the external genitalia in young girls (VEG) manifests mostly as ambiguity of the genitalia and elicits concerns and uncertainties especially in settings with poor awareness. This study evaluates the profile and challenges of VEG in southeast Nigeria.
Methods: We analyzed 23 children with VEG managed in 2 referral centers in southeast Nigeria from June 2005 to January 2013.
Results: They presented at median age of 13.3 months (interquartile range [IQR] 3 months-3 years). The cases included 3 (13%) of Prader type 1, 6 (26%) of type 2, 11 (48%) of type 3, and 3 (13%) of type 4. Five of the Prader type 3 and all 3 cases of Prader type 4 were reared as male prior to presentation. Following evaluation, all the cases were assigned female gender at a mean age of 2.7 years (range 2 months-10.5 years). Appropriate feminizing genitoplasty was undertaken in all the cases and after a follow-up period of 3 months to 5 years (mean 2 years), 2 patients developed vaginal stenosis, and 3 cases had surgical wound infection. Poor awareness, delayed presentation, inadequate facilities, and lack of trained manpower were the challenges in the management of the cases.
Conclusion: VEG in our setting is associated with delayed management. Focused health education and public awareness programs, and improved healthcare funding may improve outcome and minimize the need for gender reassignment.
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http://dx.doi.org/10.1016/j.jpag.2013.07.004 | DOI Listing |
Open Biol
January 2025
Department of Epigenetics, Medical Research Institute (MRI), Tokyo Medical and Dental University (TMDU), Tokyo 113-8510, Japan.
Retrotransposon Gag-like (RTL) 8A, 8B and 8C are eutherian-specific genes derived from a certain retrovirus. They cluster as a triplet of genes on the X chromosome, but their function remains unknown. Here, we demonstrate that and play important roles in the brain: their double knockout (DKO) mice not only exhibit reduced social responses and increased apathy-like behaviour, but also become obese from young adulthood, similar to patients with late Prader-Willi syndrome (PWS), a neurodevelopmental genomic imprinting disorder.
View Article and Find Full Text PDFBackground: Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) is a rare variant of 46,XY disorders of sex development (DSD).
Aim: To give clinical, hormonal and molecular genetic characteristics of cases of 46,XY DSD associated with variants in the HSD17B3 gene.
Materials And Methods: The study included 310 patients with 46,XY DSD for the period from 2015 to 2019.
Curr Obes Rep
January 2025
Section on Growth and Obesity, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
Purpose Of Review: Hyperphagia is a condition associated with rare obesity-related diseases, presenting as a pathologic, insatiable hunger accompanied by abnormal food-seeking behaviors. In October 2023, a group of researchers and clinicians with expert knowledge on hyperphagia convened at the annual ObesityWeek meeting to discuss the need for a unified definition of hyperphagia and key items necessary to improve the identification, assessment, and treatment of hyperphagia in patients with melanocortin 4 receptor (MC4R) pathway-associated diseases.
Recent Findings: The definition of hyperphagia proposed by this group is a pathologic, insatiable hunger accompanied by abnormal food-seeking behaviors.
Expert Opin Ther Pat
January 2025
Department of Technology and Biotechnology of Drugs, Jagiellonian University Medical College, Kraków, Poland.
Introduction: Histamine H receptor antagonists/inverse agonists, since the discovery of histamine H receptor (HR), are important ligands in the search for new potential drugs. The most interesting are CNS diseases as these receptors are mainly there present.
Areas Covered: The current review covers patent applications/patents that were published during the last 6 years (October 2017 - December 2023).
J Physiol
January 2025
Department of Molecular and Integrative Physiology, University of Illinois Urbana-Champaign, Urbana, IL, USA.
Although mammals resist both acute weight loss and weight gain, the neural circuitry mediating bi-directional defense against weight change is incompletely understood. Global constitutive deletion of the melanocortin-3-receptor (MC3R) impairs the behavioural response to both anorexic and orexigenic stimuli, with MC3R knockout mice demonstrating increased weight gain following anabolic challenges and increased weight loss following anorexic challenges (i.e.
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