title: Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient.
abstract: 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.
authors.affiliation: Service d'Endocrinologie, Service d'Orthopédie, Hôtel-Dieu de France Hospital, Beirut, Lebanon.
authors.forename: Marie-Hélène
authors.initials: MH
authors.lastname: Gannagé-Yared
authors.forename: Catherine
authors.initials: C
authors.lastname: Dodé
authors.forename: Ismat
authors.initials: I
authors.lastname: Ghanem
authors.forename: Eliane
authors.initials: E
authors.lastname: Chouery
authors.forename: Nadine
authors.initials: N
authors.lastname: Jalkh
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Hardelin
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
mesh_terms: 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
chemical_list: D011944:Receptors, Androgen; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone