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Endocrine abnormalities in patients with Jacobsen (11q−) syndrome
Author(s) -
Haghi Marjan,
Dewan Asheesh,
Jones Kenneth Lee,
Reitz Richard,
Jones Christopher,
Grossfeld Paul
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30248
Subject(s) - short stature , endocrine system , hormone , medicine , growth hormone , endocrinology , population , growth hormone deficiency , pediatrics , growth hormone treatment , environmental health
Abstract Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Short stature has been reported in this syndrome, however very few of these patients have undergone endocrine evaluation. Serum insulin‐like growth factor‐1 (IGF‐1) levels are an indirect indicator of growth hormone activity and are a useful initial screening tool in the assessment of an individual's growth hormone axis. We studied nine children with JS, eight of whom had short stature. Four out of eight children with short stature (50%) had low IGF‐1 values, with three low for age and one low for Tanner stage. Four out of six males (67%) had cryptorchidism, a potential sign of hypogonadism. We conclude that low IGF‐1 is common in patients with JS and short stature, and that growth hormone status and possibly hypothalamic‐pituitary function should be evaluated in this patient population. © 2004 Wiley‐Liss, Inc.