Male pseudohermaphroditism – asymmetrical gonadal dysganesis

ABSTRACT A child with ambiguous genitalia at birth was studied over 17 years. Both a penis with hypospadias and a vagina was shown to be present. Laparotomy at the age of one year showed an

uterus - on the right side no gonad, but a hypoplastic fallopian tube could be seen - on the left side a gonad, shown to be infantile testis and a normal fallopian tube. The sex of rearing

changed during time: girl/boy/girl. At the age of 14 hormonal study showed a very raised FSH and LH, in spite of the presence of a testis producing testosterone causing progressive

virilisation. The left testis was removed, it showed Sertoli cells and a few germinative cells in the tubules and Leydig cell hyperplasia. A biopsy from the place of the ovary on the right

side showed ovarian stroma, no primordial follicles. This sort of hermaphroditism with a dysgenetic testis and a “streak gonad” is called mixed gonadal dysgenesis or asymmetrical gonadal

dysgenesis. Chromosome analysis showed a mosaic of 71% 46 XY and 29% 45 XO (blood) cells. Further analysis on the patient and the parents made a structurally abnormal Y-chromosome, a chimera

and mosaicism due to simple non-disjunction improbable. It is concluded, that this case of asymmetrical gonadal dysgenesis must be due to anaphase lag. The course and the sex of rearing is

discussed. ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Children's Hospital Fuglebakken, Diakonissestiftelsen, Frederiksberg Hospital, Rigshospitalet, Genetio Institute,

Copenhagen, Denmark K E Petersen, H Andersen, P Foch-Andersen, G Jensen, P E Lebech, K Mauritzen, K Schouruf, E Niebuhr & N E Skakkebak Authors * K E Petersen View author publications

You can also search for this author inPubMed Google Scholar * H Andersen View author publications You can also search for this author inPubMed Google Scholar * P Foch-Andersen View author

publications You can also search for this author inPubMed Google Scholar * G Jensen View author publications You can also search for this author inPubMed Google Scholar * P E Lebech View

author publications You can also search for this author inPubMed Google Scholar * K Mauritzen View author publications You can also search for this author inPubMed Google Scholar * K

Schouruf View author publications You can also search for this author inPubMed Google Scholar * E Niebuhr View author publications You can also search for this author inPubMed Google Scholar

* N E Skakkebak View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE

Petersen, K., Andersen, H., Foch-Andersen, P. _et al._ Male pseudohermaphroditism – asymmetrical gonadal dysganesis. _Pediatr Res_ 15, 90 (1981).

https://doi.org/10.1203/00006450-198101000-00117 Download citation * Issue Date: 01 January 1981 * DOI: https://doi.org/10.1203/00006450-198101000-00117 SHARE THIS ARTICLE Anyone you share

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