Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage.
SHOX is exclusively expressed in the developing distal limb bones of human embryos and in the first and second pharyngeal arches. It works as a promoter for linear growth and as a repressor of growth plate fusion. It was reported, recently, that SHOX overdosage and gonadal estrogen deficiency have led to tall stature due to continued growth. We report, in the present study, a female patient with 45,X/46,X, psu idic(X)(pter-->q21::q21-->pter) karyotype, tall stature, and hypergonadotrophic hypogonadism without Turner stigmas. She did not present breast development even after long term therapy with high estrogen doses. Fluorescence in situ hybridization depicted the presence of three copies of SHOX gene. Microsatellite studies showed paternal origin of der(X). Further studies in similarly affected patients will clarify if the absence of breast development, despite previous high-dose estrogen treatment, is associated to triple copy of SHOX gene.
Nishi
Mirian Yumie
MY
Hospital das Clínicas, Universidade de São Paulo, SP, Brasil. minishi@usp.br
Correa
Rafaela Vieira
RV
Costa
Elaine Maria Frade
EM
Billerbeck
Ana Elisa Correia
AE
Cruzes
André Luis
AL
Domenice
Sorahia
S
Carvalho
Luciani Renata
LR
Mendonca
Berenice B
BB
D000293:Adolescent; D001827:Body Height / Q000235:genetics; D001940:Breast / Q000002:abnormalities* / Q000254:growth & development / Q000378:metabolism; D015914:Estrogen Replacement Therapy; D005260:Female; D018628:Gene Dosage / Q000235:genetics; D006130:Growth Disorders / Q000378:metabolism*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000188:drug therapy / Q000235:genetics*; D007621:Karyotyping; D012727:Sex Characteristics; D000074122:Short Stature Homeobox Protein
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein