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Die ländlichen Wohnsitze, Schlösser und Residenzen der ritterschaftlichen Grundbesitzer in der preussischen Monarchie / Duncker, Alexander (Public Domain) Ausgabe 7 1864 - 1865 (Public Domain)

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fullscreen: Die ländlichen Wohnsitze, Schlösser und Residenzen der ritterschaftlichen Grundbesitzer in der preussischen Monarchie / Duncker, Alexander (Public Domain) Ausgabe 7 1864 - 1865 (Public Domain)

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Periodical

Title:: Case reports in perinatal medicine

Publication:: Berlin Boston, Mass.: de Gruyter

Note:: Gesehen am 13.11.13; 355+C!URL-Ä+Lizenz-Ä(13-11-13)

Scope:: Online-Ressource

ISSN:: 2192-8959

ZDB-ID:: 2681350-6

VÖBB-Katalog:: 35423569

Keywords:: Zeitschrift

Classification:: Medizin

DDC Group:: 610 Medizin

Collection:: Medizin

Copyright:: Rights reserved

Accessibility:: Eingeschränkter Zugang mit Nutzungsbeschränkungen

Article

Author:: Naseem, Aamir; Zahid, Muhammad; Arshad, Kashan; Hussain, Syed Saddam; Aftab, Sommayya; Saeed, Anjum; Cheema, Huma Arshad

Title:: Aromatase deficiency due to novel CYP19A1 mutation: a rare cause of maternal and fetal virilization

Publication:: Berlin Boston, Mass.: de Gruyter, 2024

Language:: English

Information:: Objectives: Aromatase deficiency is a rare autosomal recessive condition due to a mutation in the CYP19A1 encoding aromatase enzyme. This enzyme protects the fetus and mother from excess androgens by converting them into estrogen. We are reporting a case of aromatase deficiency presented with atypical genitalia and maternal virilization due to a novel mutation in CYP19A1. Case presentation: A 10-day-old newborn presented with atypical genitalia and a history of maternal virilization during pregnancy. On examination, the baby had a Prader score of 3. Further investigation revealed karyotype 46 XX, with a normal uterus and ovaries on ultrasonography. The hormonal profile of the baby was normal except for the raised follicle stimulating hormone (FSH). Maternal ultrasound revealed polycystic ovaries, and the hormonal profile was within the normal range with slightly raised testosterone. Whole exome sequencing was done, which reported that the baby was carrying a novel homozygous mutation of the CYP19A1 gene c.575G>C p. (Arg192Pro), confirming the diagnosis of aromatase deficiency. Conclusions: Aromatase deficiency is a rare condition. A history of maternal virilization during pregnancy in a child born with atypical genitalia should alert physicians to consider aromatase deficiency.

Scope:: Online-Ressource

Note:: Open Access; Archivierung/Langzeitarchivierung gewährleistet

Keywords:: aromatase deficiency ; atypical genitalia ; maternal virilization ; novel mutation ; CYP19A1

Classification:: Medizin; Sonstiges

URN:: urn:nbn:de:101:1-2411121546562.534206164058

Collection:: Medizin; Sonstiges

Copyright:: CC BY

Accessibility:: Free Access

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