Open AccessCamptomelic dwarfism. A genetically determined mesenchymal disorder combined with sex reversal
Author(s) -
HOVMÖLLER M. L.,
OSUNA A.,
EKLÖF O.,
FREDGA K.,
HJERPE A.,
LINDSTEN J.,
RITZÉN M.,
STANESCU V.,
SVENNINGSEN N.
Publication year - 1977
Publication title -
hereditas
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.819
H-Index - 50
eISSN - 1601-5223
pISSN - 0018-0661
DOI - 10.1111/j.1601-5223.1977.tb01212.x
Subject(s) - biology , dwarfism , endocrinology , medicine , cartilage , karyotype , sexual differentiation , anatomy , genetics , chromosome , gene
Two cases of camptomelic dwarfism are presented, both with a normal male karyotype but female phenotype. One of the children died at 4 days of age, the other at 11 months. Normal female genitalia were found in both cases at autopsy. Microscopical examination of the gonads in one of the cases revealed ovarian stroma containing tubules similar to the rete ovarii found in normal newborn girls. and occasional undifferentiated germ cells. The lack of testicular development might be explained by a lack of a “testis organizing factor” (H‐Y‐antigen?). The epiphyseal cartilage was structurally and biochemically abnormal. Growth of the cartilage was impaired but mineralization was normal. The ratio of chondroitin‐4‐sulphate and 6‐sulphate was abnormal. The coexistence of skeletal abnormalities and impaired sexual differentiation in camptomelic dwarfism and several other disorders raises the question whether there are certain genetic factors on the sex chromosomes which regulate both sexual development and composition of bone and connective tissues.