Mother-to-son transmission of a luteinizing hormone receptor activating mutation in a prepubertal child with testotoxicosis.
OBJECTIVE
To identify the LHR gene mutation in a prepubertal child with testotoxicosis.


METHODS
Standard RIA procedure was used for estimating LH, FSH and testosterone levels. Molecular analysis was done by standard PCR using different sets of primers and reaction conditions specific for the LHR gene. Direct sequencing was done using the ABI Prism Dye terminator sequencing kit and the ABI 310 sequencing apparatus.


RESULTS
We found a heterozygous mutation of the LHR gene in exon 11 of the second transmembrane region, Met-->Thr at the 398 position (M398T). The same mutation was also found in the proband's mother.


CONCLUSIONS
To our knowledge, this is the first molecular characterization of maternally inherited testotoxicosis in a 5 1/2-year-old boy from the Indian subcontinent.
Eunice
Marumudi
M
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Philibert
Pascal
P
Kulshreshtha
Bindu
B
Audran
Françoise
F
Paris
Françoise
F
Sultan
Charles
C
Ammini
Ariachery C
AC
D002675:Child, Preschool; D005260:Female; D018095:Germ-Line Mutation; D007987:Gonadotropin-Releasing Hormone; D006801:Humans; D008297:Male; D009035:Mothers; D017354:Point Mutation; D011629:Puberty, Precocious / Q000235:genetics* / Q000473:pathology; D011974:Receptors, LH / Q000235:genetics*
D011974:Receptors, LH; D007987:Gonadotropin-Releasing Hormone