Estrogens exert a wide range of biological effects in both sexes also on non-reproductive systems andorgans. Human congenital estrogen deficiency, due to an inactivating mutation of the aromatase gene,leads to the lack of the estrogen synthesis, with gonadotropins and circulating testosterone ranging fromnormal to elevated. The aromatese-deficient females show hyperandrogenism and virilization at birthwith ambiguous genitalia. During childhood there are a dysfunction in the LHRH-LH/FSH axis and a progressivedelay in bone age. At puberty they showprimary amenorrhea, no breast development,worseningof the virilization and the absence of growth spurt. The clinical phenotype in the male affected subjectscomprises tall stature, persistent linear growth and delayed bone age, osteopenia/osteoporosis, eunuchoidbody proportion, different degrees of glucose–insulin and of fertility impairment. These phenotypes suggestthe physiological role of estrogens on the skeleton, on pituitary function, on the reproductive system,on glucose metabolism, being the precise mechanism on each of these functions not yet known in detail.The estradiol replacement treatment leads to a complete epiphyseal closure and to the skeletal maturation.Moreover, the increasing knowledge on the role of estrogen in several metabolic pathways could beimportant for a better management of several metabolic diseases.

Human models of aromatase deficiency / Zirilli, Lucia; Rochira, Vincenzo; Diazzi, Chiara; Caffagni, Giovanni; Carani, Cesare. - In: JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY. - ISSN 0960-0760. - ELETTRONICO. - 109:(2008), pp. 212-218. [10.1016/j.jsbmb.2008.03.026]

Human models of aromatase deficiency.

ZIRILLI, Lucia;ROCHIRA, Vincenzo;DIAZZI, Chiara;CAFFAGNI, Giovanni;CARANI, Cesare
2008

Abstract

Estrogens exert a wide range of biological effects in both sexes also on non-reproductive systems andorgans. Human congenital estrogen deficiency, due to an inactivating mutation of the aromatase gene,leads to the lack of the estrogen synthesis, with gonadotropins and circulating testosterone ranging fromnormal to elevated. The aromatese-deficient females show hyperandrogenism and virilization at birthwith ambiguous genitalia. During childhood there are a dysfunction in the LHRH-LH/FSH axis and a progressivedelay in bone age. At puberty they showprimary amenorrhea, no breast development,worseningof the virilization and the absence of growth spurt. The clinical phenotype in the male affected subjectscomprises tall stature, persistent linear growth and delayed bone age, osteopenia/osteoporosis, eunuchoidbody proportion, different degrees of glucose–insulin and of fertility impairment. These phenotypes suggestthe physiological role of estrogens on the skeleton, on pituitary function, on the reproductive system,on glucose metabolism, being the precise mechanism on each of these functions not yet known in detail.The estradiol replacement treatment leads to a complete epiphyseal closure and to the skeletal maturation.Moreover, the increasing knowledge on the role of estrogen in several metabolic pathways could beimportant for a better management of several metabolic diseases.
2008
109
212
218
Human models of aromatase deficiency / Zirilli, Lucia; Rochira, Vincenzo; Diazzi, Chiara; Caffagni, Giovanni; Carani, Cesare. - In: JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY. - ISSN 0960-0760. - ELETTRONICO. - 109:(2008), pp. 212-218. [10.1016/j.jsbmb.2008.03.026]
Zirilli, Lucia; Rochira, Vincenzo; Diazzi, Chiara; Caffagni, Giovanni; Carani, Cesare
File in questo prodotto:
File Dimensione Formato  
028_Zirilli_et_al_J_Steroid_Biochem_Mol_Biol_2008.pdf

Solo gestori archivio

Tipologia: Versione pubblicata dall'editore
Dimensione 319.02 kB
Formato Adobe PDF
319.02 kB Adobe PDF   Visualizza/Apri   Richiedi una copia
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/619815
Citazioni
  • ???jsp.display-item.citation.pmc??? 29
  • Scopus 81
  • ???jsp.display-item.citation.isi??? 69
social impact