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5α Reductase Deficiency-a Rare Cause of Ambiguous Genitalia and Gender Dysphoria.
JCEM Case Rep
November 2024
Department of Andrology, Concord Repatriation General Hospital, Hospital Road, Concord 2139, NSW, Australia.
We present a case of pseudovaginal perineoscrotal hypospadias, secondary to 5α-reductase deficiency presenting as gender dysphoria. This particular enzyme deficiency accounts for only a small number of disorders of sexual development cases worldwide. A feature of this disorder is the presence of ambiguous genitalia at birth followed by the development of male secondary sexual characteristics during puberty when testicular production of testosterone can compensate for previous low circulating levels of 5-dihydrotestosterone (DHT).
View Article and Find Full Text PDFInherited white matter disorders: Hypomyelination (myelin disorders).
Handb Clin Neurol
September 2024
Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montréal, QC, Canada; Departments of Pediatrics and Human Genetics, McGill University, Montréal, QC, Canada. Electronic address:
Hypomyelinating leukodystrophies are a subset of genetic white matter diseases characterized by insufficient myelin deposition during development. MRI patterns are used to identify hypomyelinating disorders, and genetic testing is used to determine the causal genes implicated in individual disease forms. Clinical course can range from severe, with patients manifesting neurologic symptoms in infancy or early childhood, to mild, with onset in adolescence or adulthood.
View Article and Find Full Text PDFMicrophallus early management in infancy saves adulthood sensual life: A comprehensive review.
World J Clin Pediatr
June 2024
Department of Medicine, The Royal College of Surgeons in Ireland-Bahrain, Busiateen 15503, Bahrain.
Microphallus/Micropenis is a rare condition with significant physical and psychological implications for affected individuals. This article comprehensively reviews micropenis, its etiology, epidemiology, and various treatment options. We conducted a thorough literature review to collect relevant information on micropenis and microphallus, as well as related disorders.
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