Successful Pregnancy in a Patient with Severe 11-Beta-Hydroxylase Deficiency and Novel Mutations in CYP11B1 Gene

2007 ◽  
Vol 68 (6) ◽  
pp. 294-297 ◽  
Author(s):  
Peter J. Simm ◽  
Margaret R. Zacharin
Keyword(s):  
Novel Mutations ◽  
Hydroxylase Deficiency ◽  
Successful Pregnancy

scholarly journals The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency

2016 ◽  
pp. 49-53 ◽  
Author(s):  
Karolina M. Stepien ◽  
Anthony S. Wierzbicki ◽  
Bwee T. Poll-The ◽  
Hans R. Waterham ◽  
Christian J. Hendriksz
Keyword(s):  
Hydroxylase Deficiency ◽  
Successful Pregnancy ◽  
Refsum's Disease

scholarly journals A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene

2015 ◽  
Vol 2015 ◽  
Author(s):  
Chrisanthi Marakaki ◽  
Anna Papadopoulou ◽  
Olga Karapanou ◽  
Dimitrios T Papadimitriou ◽  
Kleanthis Kleanthous ◽  
...  
Keyword(s):  
External Genitalia ◽  
Bone Age ◽  
Compound Heterozygous ◽  
List Type ◽  
Novel Mutations ◽  
Acth Stimulation ◽  
Adrenal Androgen ◽  
Hydroxylase Deficiency ◽  
Adrenal Androgens ◽  
21 Hydroxylase Deficiency

Summary 11β-hydroxylase deficiency (11β-OHD), an autosomal recessive inherited disorder, accounts for 5–8% of congenital adrenal hyperplasia. In Greece, no cases of 11β-OHD have been described so far. The patient presented at the age of 13 months with mild virilization of external genitalia and pubic hair development since the age of 3 months. Hormonal profile showed elevated 11-deoxycortisol, adrenal androgens and ACTH levels. ACTH stimulation test was compatible with 11β-OHD. DNA of the proband and her parents was isolated and genotyped for CYP11B1 gene coding cytochrome P450c11. The girl was found to be compound heterozygous for two CYP11B1 novel mutations, p.Ala386Glu (exon 7), inherited from the father and p.Leu471Argin (exon 9) from the mother. Hydrocortisone supplementation therapy was initiated. Four years after presentation she remains normotensive, her growth pattern is normal and the bone age remains advanced despite adequate suppression of adrenal androgens. Learning points 11β-hydroxylase (CYP11B1) deficiency (11OHD; OMIM +202010) is the second most common cause of CAH accounting for approximately 5–8% of cases with an incidence of 1:100 000–1:200 000 live births in non-consanguineous populations. Two CYP11B1 inactivating novel mutations, p.Ala386Glu and p.Leu471Arg are reported Regarding newborn females, in utero androgen excess results in ambiguous genitalia, whereas in the male newborn diagnosis may go undetected. In infancy and childhood adrenal androgen overproduction results in peripheral precocious puberty in boys and various degrees of virilization in girls. Accumulation of 11-deoxycorticosterone and its metabolites causes hypertension in about two thirds of patients. Diagnosis lies upon elevated 11-deoxycortisol and DOC plus upstream precursors, such as 17α-hydroxyprogesterone and Δ4-androstenedione. The established treatment of steroid 11β-OHD is similar to that of steroid 21-hydroxylase deficiency and consists of glucocorticoid administration in order to reduce ACTH-driven DOC overproduction resulting in hypertension remission and improvement of the virilization symptoms.

scholarly journals Three Novel Mutations in CYP21 Gene in Brazilian Patients with the Classical Form of 21-Hydroxylase Deficiency Due to a Founder Effect

2002 ◽  
Vol 87 (9) ◽  
pp. 4314-4317 ◽  
Author(s):  
Ana Elisa C. Billerbeck ◽  
Berenice B. Mendonca ◽  
Emilia M. Pinto ◽  
Guiomar Madureira ◽  
Ivo J. P. Arnhold ◽  
...  
Keyword(s):  
Founder Effect ◽  
Novel Mutations ◽  
Hydroxylase Deficiency ◽  
Classical Form ◽  
Cyp21 Gene ◽  
21 Hydroxylase Deficiency

Phenylalanine hydroxylase deficiency in a population in Germany: Mutational profile and nine novel mutations

1996 ◽  
Vol 8 (3) ◽  
pp. 276-279 ◽  
Author(s):  
Per Guldberg ◽  
Rudolf Mallmann ◽  
Karen Friis Henriksen ◽  
Flemming Güttler
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Novel Mutations ◽  
Hydroxylase Deficiency

scholarly journals Novel Mutations inCYP11B1Gene Leading to 11β-Hydroxylase Deficiency in Brazilian Patients

2009 ◽  
Vol 94 (9) ◽  
pp. 3481-3485 ◽  
Author(s):  
Fernanda C. Soardi ◽  
Junia Y. Penachioni ◽  
Giselle Z. Justo ◽  
Tânia A. S. S. Bachega ◽  
Marlene Inácio ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Hydroxylase Deficiency
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