Glossary for Penis agenesis

• Ablepharon macrostomia syndrome: A rare disorder involving a number of mainly physical abnormalities.
• Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
• Denys-Drash Syndrome: A condition which is characterized by gonadal dysgenesis, nephropathy and the occurrence of Wilm's tumour
• Frasier syndrome: A rare syndrome involving kidney disease and male pseudohermaphrodism (genetic male with some female sex organs). Kidney failure can occur as early as adolescence.
• Lipoid congenital adrenal hyperplasia: A rare form of congenital adrenal hyperplasia where the early phase of adrenal cortisol production is defective which causes mineralocorticoid deficiency. Male pseudohermaphroditism is the main characteristic of this disorder.
• Smith-Lemli-Opitz Syndrome: A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol.
• Swyer syndrome: A rare disorder where a female has all the normal external femal characteristics but has non-functioning gonads. This means that none sex hormones needed for puberty are produced.

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