Disorders of puberty: Inactivating and activating molecular mutations

Linda DiMeglio, O. H. Pescovitz

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Recent developments have increased our understanding of the molecular mechanisms that are responsible for several disorders of puberty. Specific gene mutations have been identified in three syndromes, one that is associated with delayed puberty (Kallmann syndrome) and two that are associated with precocious puberty (McCune-Albright syndrome and familial male precocious puberty). Mutations in the KAL gene have been shown to he responsible for cases of X-linked Kallmann syndrome. This gene encodes a protein that is believed to be involved in neural target recognition and protease inhibition. In McCune-Albright syndrome, heterozygous, postzygotic somatic mutations of the α-subunit of the stimulatory guanine nucleotide binding protein G(s) have been shown to stimulate constitutive G protein activation and long-term cyclic adenosine monophosphate production. Similarly, familial male precocious puberty has been linked to gain-in- function mutations that result in increased levels of cyclic adenosine monophosphate; however, these mutations are found in the luteinizing hormone receptor gene itself. The clinical manifestations and the recent molecular advances in each of these three syndromes are explored.

Original languageEnglish
JournalJournal of Pediatrics
Volume131
Issue number1 II SUPPL.
StatePublished - 1997

Fingerprint

Puberty
Mutation
Kallmann Syndrome
Polyostotic Fibrous Dysplasia
Cyclic AMP
Genes
Delayed Puberty
Precocious Puberty
LH Receptors
Guanine Nucleotides
GTP-Binding Proteins
Carrier Proteins
Peptide Hydrolases
Proteins
Sexual precocity

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Disorders of puberty : Inactivating and activating molecular mutations. / DiMeglio, Linda; Pescovitz, O. H.

In: Journal of Pediatrics, Vol. 131, No. 1 II SUPPL., 1997.

Research output: Contribution to journalArticle

@article{4de90261fca4409c8dcee6703c1476fe,
title = "Disorders of puberty: Inactivating and activating molecular mutations",
abstract = "Recent developments have increased our understanding of the molecular mechanisms that are responsible for several disorders of puberty. Specific gene mutations have been identified in three syndromes, one that is associated with delayed puberty (Kallmann syndrome) and two that are associated with precocious puberty (McCune-Albright syndrome and familial male precocious puberty). Mutations in the KAL gene have been shown to he responsible for cases of X-linked Kallmann syndrome. This gene encodes a protein that is believed to be involved in neural target recognition and protease inhibition. In McCune-Albright syndrome, heterozygous, postzygotic somatic mutations of the α-subunit of the stimulatory guanine nucleotide binding protein G(s) have been shown to stimulate constitutive G protein activation and long-term cyclic adenosine monophosphate production. Similarly, familial male precocious puberty has been linked to gain-in- function mutations that result in increased levels of cyclic adenosine monophosphate; however, these mutations are found in the luteinizing hormone receptor gene itself. The clinical manifestations and the recent molecular advances in each of these three syndromes are explored.",
author = "Linda DiMeglio and Pescovitz, {O. H.}",
year = "1997",
language = "English",
volume = "131",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "1 II SUPPL.",

}

TY - JOUR

T1 - Disorders of puberty

T2 - Inactivating and activating molecular mutations

AU - DiMeglio, Linda

AU - Pescovitz, O. H.

PY - 1997

Y1 - 1997

N2 - Recent developments have increased our understanding of the molecular mechanisms that are responsible for several disorders of puberty. Specific gene mutations have been identified in three syndromes, one that is associated with delayed puberty (Kallmann syndrome) and two that are associated with precocious puberty (McCune-Albright syndrome and familial male precocious puberty). Mutations in the KAL gene have been shown to he responsible for cases of X-linked Kallmann syndrome. This gene encodes a protein that is believed to be involved in neural target recognition and protease inhibition. In McCune-Albright syndrome, heterozygous, postzygotic somatic mutations of the α-subunit of the stimulatory guanine nucleotide binding protein G(s) have been shown to stimulate constitutive G protein activation and long-term cyclic adenosine monophosphate production. Similarly, familial male precocious puberty has been linked to gain-in- function mutations that result in increased levels of cyclic adenosine monophosphate; however, these mutations are found in the luteinizing hormone receptor gene itself. The clinical manifestations and the recent molecular advances in each of these three syndromes are explored.

AB - Recent developments have increased our understanding of the molecular mechanisms that are responsible for several disorders of puberty. Specific gene mutations have been identified in three syndromes, one that is associated with delayed puberty (Kallmann syndrome) and two that are associated with precocious puberty (McCune-Albright syndrome and familial male precocious puberty). Mutations in the KAL gene have been shown to he responsible for cases of X-linked Kallmann syndrome. This gene encodes a protein that is believed to be involved in neural target recognition and protease inhibition. In McCune-Albright syndrome, heterozygous, postzygotic somatic mutations of the α-subunit of the stimulatory guanine nucleotide binding protein G(s) have been shown to stimulate constitutive G protein activation and long-term cyclic adenosine monophosphate production. Similarly, familial male precocious puberty has been linked to gain-in- function mutations that result in increased levels of cyclic adenosine monophosphate; however, these mutations are found in the luteinizing hormone receptor gene itself. The clinical manifestations and the recent molecular advances in each of these three syndromes are explored.

UR - http://www.scopus.com/inward/record.url?scp=0030724641&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030724641&partnerID=8YFLogxK

M3 - Article

C2 - 9255219

AN - SCOPUS:0030724641

VL - 131

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 1 II SUPPL.

ER -