Volume 20, Issue 2, june 2004

Feature Article

CLINICAL FEATURES IN SHOX HAPLOINSUFFICIENCY: DIAGNOSTIC AND THERAPEUTIC IMPLICATIONS

Tsutomu Ogata, MD, PhD; Maki Fukami, MD
Department of Endocrinology and Metabolism
National Research Institute for Child Health
     and Development
Tokyo, Japan

The distal end of Xp and Yp is composed of 2.6 Mb DNA sequences that are identical between the X and the Y chromosome. 1 This particular region is named the short arm pseudoautosomal region (PAR1), where the X and the Y chromosomes recombine during male meiosis. 1 Since Xp terminal deletions invariably result in short stature irrespective of the breakpoints, 2 and small Yp terminal deletions lead to short stature, 3 it has been suggested that a growth gene escaping X-inactivation resides in the PAR1, and that haploinsufficiency of the growth gene causes short stature in both sexes as a dominant phenotype. 2

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From the Editor's Desk

Abstracts

STATs Role in Growth Hormone Insensitivity

IGF-1 Receptor Mutations in Intrauterine Growth Retardation

Overlap Between Schmid Metaphyseal Chondrodysplasia and Cartilage-Hair Hypoplasia

C-type Natiuretic Peptide and Achondroplasia

TBX1 in del 22q11.2 Syndrome (Di George)

Criss-Crossing the Insulin and Insulin-like Growth Factor Pathways

Klinefelter Syndrome: Phenotype and New Research

Soy Formula Complicates the Management of Congenital Hypothyroidism

Letter To The Editor: Sexual Outlook for Post-Surgical Ambiguous Genitalia Patients