Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient.
Kallmann syndrome (KS) is a developmental disease that combines hypogonadotropic hypogonadism and anosmia/hyposmia. Other congenital abnormalities may also coexist. This present report describes two sisters, aged 13 and 12 years, born from Lebanese consanguineous parents. The two sisters have complete androgen insensitivity (normal female appearance and an XY karyotype) due to a novel mutation, a C-to-G transversion in intron 2 of the androgen receptor gene, resulting in an aberrant splicing leading to an insertion of 66 nucleotides in the mRNA. In addition, the older sister has KS, together with synkinesia and multiple skeletal abnormalities, mainly kyphosis, vertebral abnormalities, and short right hand and feet. Her testosterone, FSH and LH levels were very low compared with her younger sister. No mutation in the KAL1 and FGFR1/KAL2 genes were found. This unique report raises the possibility of an autosomal recessive or X-linked form of KS with new phenotypic expression.
Gannagé-Yared
Marie-Hélène
MH
Service d'Endocrinologie, Service d'Orthopédie, Hôtel-Dieu de France Hospital, Beirut, Lebanon.
Dodé
Catherine
C
Ghanem
Ismat
I
Chouery
Eliane
E
Jalkh
Nadine
N
Hardelin
Jean-Pierre
JP
Mégarbané
André
A
D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000097:blood / Q000150:complications* / Q000235:genetics / Q000473:pathology; D002648:Child; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D017436:Kallmann Syndrome / Q000097:blood / Q000150:complications* / Q000235:genetics / Q000473:pathology; D007621:Karyotyping; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D011944:Receptors, Androgen / Q000235:genetics; D013739:Testosterone / Q000097:blood
D011944:Receptors, Androgen; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone