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Childhood growth of females with K allmann syndrome and FGFR 1 mutations
Author(s) -
Hero Matti,
Laitinen EevaMaria,
Varimo Tero,
Vaaralahti Kirsi,
Tommiska Johanna,
Raivio Taneli
Publication year - 2015
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.12504
Subject(s) - proband , offspring , medicine , phenotype , endocrinology , pediatrics , cohort , fertility , physiology , mutation , biology , genetics , gene , pregnancy , population , environmental health
Summary Objective In search of phenotypic cues that would allow early detection of K allmann syndrome ( KS ), we evaluated the paediatric phenotypes in a series of females with KS . Design, Patients and Measurements In this retrospective cohort study, we investigated childhood growth in six females with KS due to mutations in FGFR 1 and evaluated their reproductive phenotypes later in life. Results While growth during early infancy and childhood was within normal limits, a decreasing trend in height SDS already from mid‐childhood occurred in most patients. The lowest height SDS (mean, −1·2 SDS ) occurred between 14 and 15 years of age, before the start of hormone replacement therapy. As adults, these women required assisted reproductive techniques for fertility. One of the probands passed on her G48S mutation to her son, who showed normal reproductive hormone levels during the minipuberty of infancy. Conclusions Early diagnosis of female KS remains a challenge as early phenotypic signs, apart from anosmia, are scarce. Females with KS exhibit a slight reduction in growth rate during mid‐childhood, but normal growth rate during the minipuberty of infancy, despite congenital lack of ovarian oestrogen. Women harbouring FGFR 1 mutations will have 50% chance of passing on the gene defect to their offspring. We recommend genetic counselling to all females with KS to be carried out as a part of family planning.