Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement.

Burckhardt, Marie-Anne; Obmann, Verena Carola; Wolf, Rainer Walter; Janner, Marco; Flück, Christa E; Mullis, Primus-Eugen (2015). Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement. Gynecological endocrinology, 31(5), pp. 349-354. Informa Healthcare 10.3109/09513590.2014.995619

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Abstract Background: Aromatase deficiency may result in a complete block of estrogen synthesis because of the failure to convert androgens to estrogens. In females, this results in virilisation at birth, ovarian cysts in prepuberty and lack of pubertal development but virilisation, thereafter. Objective and methods: We studied the impact of oral 17β-estradiol treatment on ovarian and uterine development, and on LH/FSH and inhibin B during the long-term follow-up of a girl harboring compound heterozygote point mutations in the CYP19A1 gene. Results: In early childhood, low doses of oral 17β-estradiol were needed. During prepuberty treatment with slowly increasing doses of E2 resulted in normal uterine and almost normal development of ovarian volume, as well as number and size of follicles. Regarding hormonal feedback mechanisms, inhibin B levels were in the upper normal range during childhood and puberty. Low doses of estradiol did not suffice to achieve physiological gonadotropin levels in late prepuberty and puberty. However, when estradiol doses were further increased in late puberty levels of both FSH and LH declined with estradiol levels within normal range. Conclusion: Complete aromatase deficiency provides an excellent model of how ovarian and uterine development in relation to E2, LH, FSH and inhibin B feedback progresses from infancy to adolescence.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Endokrinologie / Diabetologie / Metabolik (Pädiatrie)
04 Faculty of Medicine > Department of Radiology, Neuroradiology and Nuclear Medicine (DRNN) > Institute of Diagnostic, Interventional and Paediatric Radiology

UniBE Contributor:

Burckhardt, Marie-Anne; Obmann, Verena Carola; Wolf, Rainer Walter; Janner, Marco and Mullis, Primus-Eugen

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0951-3590

Publisher:

Informa Healthcare

Language:

English

Submitter:

Aisha Stefania Mzinga

Date Deposited:

01 May 2015 15:09

Last Modified:

05 Nov 2015 11:17

Publisher DOI:

10.3109/09513590.2014.995619

PubMed ID:

25585547

Uncontrolled Keywords:

Aromatase; estradiol treatment; gonadotrophic axis; inhibin B; ovarian and uterine development; ovarian cysts

URI:

https://boris.unibe.ch/id/eprint/66852

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