PubMed · 14778107
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J E C STOLLMEYER, J P A LATOUR. 1950. Pseudohermaphroditism.. https://pubmed.ncbi.nlm.nih.gov/14778107/
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The Leydig cell hypoplasia is a rare and well defined form of male pseudohermaphroditism with autosomal recessive inheritance pattern. An inadequate fetal testicular Leydig cell differentiation and, consequently a low androgenic production during intra uterine and post natal periods, result in absence or incomplete virilization in patients with 46,XY karyotype. These patients exhibit a wide clinical spectrum, ranging from complete female external genitalia to male external genital with micropenis, low serum testosterone levels associated with high LH levels. Inactivating mutations of the LH/hCG receptor gene have been identified in affected families in the last decade. However, the low frequency of inactivating mutations in this gene, and the lack of segregation of intragenic polymorphisms among affected members from families with typical phenotype of Leydig cell hypoplasia, suggest the genetic heterogeneity of this condition.
As early as 1860 the French photographer Gaspard Félix Tournachon, called Nadar (1820-1910), took a series of nine photographs depicting a young intersex patient. These illustrations were not published at their time and little is known about the patient and the role of the physicians involved in this case. The article discusses the available information on these artworks that today belong to the photographic collection of the Musée d'Orsay in Paris.
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