The University of Southampton
University of Southampton Institutional Repository

Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6

Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6
Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6
We describe a girl with triple X syndrome and paternal isodisomy of chromosome 6 (UPD6), who developed neonatal diabetes mellitus (NDM) and precocious puberty. At birth she presented growth retardation and congenital anomalies (ventricular septal defect, macroglossia, umbilical hernia). Diabetes mellitus (DM) was diagnosed at 31 days of life and treated with insulin for 13 months. DM recurred at 4 years of age and since that time it required insulin, in spite of preserved beta-cell function. Tall stature was present from early childhood. At 7 years of age the girl presented central precocious puberty, height velocity further increased, but her near-final height was normal. This patient is unique in that precocious puberty has never been described in triple X females. Moreover it is a further example of paternal UPD6 causing NDM with a predisposition to type 2 DM in later life.
0334-018X
897-900
Valerio, G.
a2dcf93f-710d-4349-a457-c00d34a096be
Franzese, A.
b1de8613-a0b5-4f71-a13d-e6dcc23c5b1c
Palmieri, A.
36f7d022-2345-40c7-a1b8-99958346f582
Mackay, D.J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Gardner, R.J.
11aad803-59eb-493b-b16e-ffd3c5c82d04
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Valerio, G.
a2dcf93f-710d-4349-a457-c00d34a096be
Franzese, A.
b1de8613-a0b5-4f71-a13d-e6dcc23c5b1c
Palmieri, A.
36f7d022-2345-40c7-a1b8-99958346f582
Mackay, D.J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Gardner, R.J.
11aad803-59eb-493b-b16e-ffd3c5c82d04
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226

Valerio, G., Franzese, A., Palmieri, A., Mackay, D.J.G., Gardner, R.J. and Temple, I.K. (2001) Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6. Journal of Pediatric Endocrinology and Metabolism, 14 (7), 897-900.

Record type: Article

Abstract

We describe a girl with triple X syndrome and paternal isodisomy of chromosome 6 (UPD6), who developed neonatal diabetes mellitus (NDM) and precocious puberty. At birth she presented growth retardation and congenital anomalies (ventricular septal defect, macroglossia, umbilical hernia). Diabetes mellitus (DM) was diagnosed at 31 days of life and treated with insulin for 13 months. DM recurred at 4 years of age and since that time it required insulin, in spite of preserved beta-cell function. Tall stature was present from early childhood. At 7 years of age the girl presented central precocious puberty, height velocity further increased, but her near-final height was normal. This patient is unique in that precocious puberty has never been described in triple X females. Moreover it is a further example of paternal UPD6 causing NDM with a predisposition to type 2 DM in later life.

Full text not available from this repository.

More information

Published date: 2001
Additional Information: Patient report

Identifiers

Local EPrints ID: 25006
URI: http://eprints.soton.ac.uk/id/eprint/25006
ISSN: 0334-018X
PURE UUID: 8736f3d4-a14a-4b0f-82fc-e944b8a1a7c9
ORCID for D.J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for I.K. Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 05 Apr 2006
Last modified: 03 Dec 2019 01:56

Export record

Contributors

Author: G. Valerio
Author: A. Franzese
Author: A. Palmieri
Author: D.J.G. Mackay ORCID iD
Author: R.J. Gardner
Author: I.K. Temple ORCID iD

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×