Late Onset Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Presenting as Isolated Premature Thelarche

2007 ◽  
Vol 20 (1) ◽  
Author(s):  
I. Zador
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Late Onset ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Premature Thelarche ◽  
Isolated Premature Thelarche ◽  
21 Hydroxylase Deficiency

Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Update on Genetic Analysis of CYP21A2 Gene

2020 ◽  
Author(s):  
Berta Carvalho ◽  
C.Joana Marques ◽  
Rita Santos-Silva ◽  
Manuel Fontoura ◽  
Davide Carvalho ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Congenital Adrenal Hyperplasia ◽  
Late Onset ◽  
Molecular Genetic Analysis ◽  
Clinical Severity ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Cyp21a2 Gene ◽  
Pathogenic Variants ◽  
21 Hydroxylase Deficiency

AbstractCongenital Adrenal Hyperplasia is a group of genetic autosomal recessive disorders that affects adrenal steroidogenesis in the adrenal cortex. One of the most common defects associated with Congenital Adrenal Hyperplasia is the deficiency of 21-hydroxylase enzyme, responsible for the conversion of 17-hydroxyprogesterone to 11-deoxycortisol and progesterone to deoxycorticosterone. The impairment of cortisol and aldosterone production is directly related to the clinical form of the disease that ranges from classic or severe to non-classic or mild late onset. The deficiency of 21-hydroxylase enzyme results from pathogenic variants on CYP21A2 gene that, in the majority of the cases, compromise enzymatic activity and are strongly correlated with the clinical severity of the disease. Due to the exceptionally high homology and proximity between the gene and the pseudogene, more than 90% of pathogenic variants result from intergenic recombination. Around 75% are deleterious variants transferred from the pseudogene by gene conversion, during mitosis. About 20% are due to unequal crossing over during meiosis and lead to duplications or deletions on CYP21A2 gene. Molecular genetic analysis of CYP21A2 variants is of major importance for confirmation of clinical diagnosis, predicting prognosis and for an appropriate genetic counselling. In this review we will present an update on the genetic analysis of CYP21A2 gene variants in CAH patients performed in our department.

Late-Onset Steroid 21-Hydroxylase Deficiency: A Variant of Classical Congenital Adrenal Hyperplasia*

1982 ◽  
Vol 55 (5) ◽  
pp. 817-827 ◽  
Author(s):  
BRENDA KOHN ◽  
LENORE S. LEVINE ◽  
MARILYN S. POLLACK ◽  
SONGYA PANG ◽  
FRANZISKA LORENZEN ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Late Onset ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

The Incidence of Late-Onset Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency among Hirsute Women*

1984 ◽  
Vol 58 (4) ◽  
pp. 595-598 ◽  
Author(s):  
RYSZARD J. CHETKOWSKI ◽  
JOHN DEFAZIO ◽  
ISSA SHAMONKI ◽  
HOWARD L. JUDD ◽  
R. JEFFREY CHANG
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Late Onset ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

scholarly journals Late onset congenital adrenal hyperplasia in pregnancy

2021 ◽  
Vol 7 (4) ◽  
pp. 227-230
Author(s):  
Aditi Ramachandra Chandraya
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Early Pregnancy ◽  
Late Onset ◽  
Steroid Treatment ◽  
Team Management ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Conflicting Evidence ◽  
21 Hydroxylase Deficiency ◽  
In Pregnancy

Congenital adrenal Hyperplasia (CAH) is a rare disorder to manage in pregnancy as CAH is known to cause infertility. Late onset CAH is more so with 21-hydroxylase deficiency being the most common enzyme deficiency for the same. The mainstay of management in pregnancy is multidisciplinary team management with a consultant Obstetrician and Medical Endocrinologist, steroid treatment and avoiding virilisation of the female patient in early pregnancy is important continuation of dexamethasone is controversial with conflicting evidence and also precipitating or worsening hyperemesis in pregnancy.

'Cryptic' form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the Yugoslav population

1985 ◽  
Vol 109 (3) ◽  
pp. 386-392 ◽  
Author(s):  
Miro Dumić ◽  
Ljerka Brkljačić ◽  
Duško Mardešić ◽  
Vesna Plavšić ◽  
Milica Lukenda ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Clinical Symptoms ◽  
Index Case ◽  
Late Onset ◽  
Hla Typing ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Classical Form ◽  
21 Hydroxylase Deficiency

Abstract. Five individuals with the asymptomatic, 'nonclassical', 'cryptic' form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21-OH) deficiency from 5 unrelated families were discovered during hormonal studies and HLA-typing performed in a series of 24 families with CAH due to 21-OH deficiency. Four of the 5 individuals with the 'cryptic' form of CAH belong to families where the index case was a patient with the classical form of CAH due to 21-OH deficiency. The fifth one originated from a family where the index case was a girl with the 'non-classical', 'late-onset' form of the disease. All the 5 individuals had no clinical symptoms in spite of clearcut biochemical signs of 21-OH deficiency: increased 17-OH-progesterone (17-OHP), dehydroepiandrosterone and androstenedione levels, particularly after ACTH-stimulation. The 17-OHP response upon ACTH stimulation of heterozygotes for this 'non-classical' form of 21-OH deficiency did not differ from the response of heterozygous individuals for the classical form of the disease. The results of this study confirm the hypothesis that individuals with the 'cryptic' form of CAH due to 21-OH deficiency are genetic compounds bearing one allele for the severe, classical form, and on the homologous locus, another one for the mild 'nonclassical' form of CAH due to 21-OH deficiency. Their genotype was 21-OHsevere/21-OHmild, The gene for 'cryptic' 21-OH deficiency, as well as the gene for the classical form of the disease is linked to the HLA system, but in our population apparently it is not in genetic disequilibrium with the antigens B 14 DR 1, as it was shown for other populations studied up to now.

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