Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families

Endocrine
Luciana Pinto ValadaresAdriana Lofrano-Porto

Abstract

11β-hydroxylase deficiency accounts for 5% of congenital adrenal hyperplasia cases. Diagnosis suspiction is classically based on the association between abnormal virilization, precocious puberty, and hypertension in 46XX or 46XY subjects. We investigated two families with siblings presenting with opposed clinical features, and provided a review of the mechanisms involved in mineralocorticoid-dependent phenotypic heterogeneity. The coding region of the CYP11B1 gene of 4 patients was sequenced and familial segregation was confirmed. Clinical characterization and blood steroid profile were performed. Family 1 comprised a female and a male siblings who presented in middle childhood with genital ambiguity (Prader II) and precocious puberty, respectively, associated with hypertension. In the second decade of life, the woman had three full-term pregnancies, and then evolved normotensive with no treatment over a 5-year follow up. On the other hand, her brother had hypertensive end-organ damage at age 24. In family 2, a 2.9 year-old boy presented with precocious puberty and hypertension, whereas his 21 days-old sister had genital ambiguity (Prader III) and salt wasting. A homozygous exon 4 splice site mutation was identified (IVS4ds-1G ...Continue Reading

References

Nov 1, 1984·Archives of Disease in Childhood·Z HochbergZ Zadik
Feb 1, 1984·The Journal of Clinical Endocrinology and Metabolism·Z ZadikZ Hochberg
May 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·K M CurnowL Pascoe
Jan 22, 1998·The Journal of Clinical Endocrinology and Metabolism·D P MerkeG B Cutler
Sep 11, 2003·American Journal of Medical Genetics. Part a·Yuan-Shan ZhuJulianne Imperato-McGinley
Mar 18, 2004·Molecular and Cellular Endocrinology·Michael Lisurek, Rita Bernhardt
Mar 12, 2005·Arquivos brasileiros de endocrinologia e metabologia·Maricilda Palandi MelloMargaret de Castro
Feb 26, 2008·Trends in Endocrinology and Metabolism : TEM·Saroj Nimkarn, Maria I New
Jun 9, 2009·Best Practice & Research. Clinical Endocrinology & Metabolism·Nils Krone, Wiebke Arlt
Jul 2, 2009·The Journal of Clinical Endocrinology and Metabolism·Fernanda C SoardiMaricilda P de Mello
Jun 19, 2010·Journal of Cardiovascular Translational Research·Sajjad RafiqRobert Roberts
Nov 6, 2010·Endocrine Reviews·Walter L Miller, Richard J Auchus
Nov 9, 2010·Clinical Endocrinology·Vanessa RonconiGilberta Giacchetti
Jan 11, 2013·European Heart Journal·Georg B Ehret, Mark J Caulfield
Jun 20, 2014·Journal of Human Hypertension·C CampinoC E Fardella
Feb 8, 2016·The Lancet. Diabetes & Endocrinology·Ana Claudia LatronicoJean-Claude Carel
Feb 24, 2017·Proceedings of the National Academy of Sciences of the United States of America·Ahmed KhattabMaria I New
May 12, 2017·International Journal of Molecular Sciences·John W Funder

❮ Previous
Next ❯

Citations

Sep 20, 2019·International Journal of Molecular Sciences·Federico BaronioAntonio Balsamo
Oct 28, 2019·Endocrinology and Metabolism Clinics of North America·Filippo Ceccato, Franco Mantero
Jul 2, 2021·Systems Biology in Reproductive Medicine·Hossein HosseiniradYousef Sadeghi

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cachexia & Brown Fat

Cachexia is a condition associated with progressive weight loss due to severe illness. In cancer patients, it is proposed to occur as a result of tumor-induced energy wasting. Several proteins have been implicated in browning and depletion of white adipose tissue. Here is the latest research on cachexia and brown fat.

Cardiac Cachexia

Cardiac cachexia is a syndrome associated with the progressive loss of muscle and fat mass. It most commonly affects patients with heart failure and can significantly decrease the quality of life and survival in these patients. Here is the latest research on cardiac cachexia.