scholarly journals Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Meredith Wasserman ◽  
Erin M. Mulvihill ◽  
Angela Ganan-Soto ◽  
Serife Uysal ◽  
Jose Bernardo Quintos
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Short Stature ◽  
Genetic Disorder ◽  
Uniparental Disomy ◽  
Adolescent Male ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height.

“Acquired” Adrenal Hyperplasia with 21-Hydroxylase Deficiency is Not the Same Genetic Disorder as Congenital Adrenal Hyperplasia

1979 ◽  
Vol 34 (8) ◽  
pp. 600-602
Author(s):  
M. I. NEW ◽  
F. LORENZEN ◽  
S. PANG ◽  
P. GUNCZLER ◽  
B. DUPONT ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Genetic Disorder ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

“ACQUIRED” ADRENAL HYPERPLASIA WITH 21-HYDROXYLASE DEFICIENCY IS NOT THE SAME GENETIC DISORDER AS CONGENITAL ADRENAL HYPERPLASIA

1979 ◽  
Vol 48 (2) ◽  
pp. 356-359 ◽  
Author(s):  
M.I New ◽  
F Lorenzen ◽  
S Pang ◽  
P Gunczler ◽  
B Dupont ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Genetic Disorder ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

scholarly journals Phenotype of Maternal Uniparental Disomy of Chromosome 6 (UPD6mat) Revealed by 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia (CAH) • 736

1998 ◽  
Vol 43 ◽  
pp. 128-128
Author(s):  
Rhonda Spiro ◽  
Susan I Christian ◽  
David H Ledbetter ◽  
Maria I New ◽  
Robert Wilson ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Uniparental Disomy ◽  
Chromosome 6 ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Maternal Uniparental Disomy ◽  
21 Hydroxylase Deficiency

scholarly journals A neglected case of treatable genetic disorder

2016 ◽  
Vol 4 (04) ◽  
pp. 01-03
Author(s):  
C. Rekha ◽  
R. Paramaguru ◽  
Vimala Sarojini ◽  
Dinisha Einstien ◽  
A. Prathiba
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Genetic Disorder ◽  
External Genitalia ◽  
Female Child ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Adrenal Hormones ◽  
Stage 4 ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia(CAH) is a autosomal recessive genetic disorder involving adrenal hormones resulting in excessive production of androgens and hence their effects. Here we report a case of CAH which was diagnosed very late but was treated successfully. 12 years old female child came to us with ambiguous genitalia. Examination showed praders stage 4 external genitalia. Evaluated further and confirmed as a case of classic type of simple virilising congenital adrenal hyperplasia due to 21 hydroxylase deficiency. She was successfully treated with steroids and surgical correction was also done. Now child has also attained menarche and on follow up at our pediatric out patient department.

scholarly journals Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

2011 ◽  
Vol 96 (1) ◽  
pp. E161-E172 ◽  
Author(s):  
Gabriela P. Finkielstain ◽  
Wuyan Chen ◽  
Sneha P. Mehta ◽  
Frank K. Fujimura ◽  
Reem M. Hanna ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Congenital Adrenal Hyperplasia ◽  
Mutation Analysis ◽  
De Novo ◽  
Uniparental Disomy ◽  
Compound Heterozygous ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Study Objective ◽  
21 Hydroxylase Deficiency

Background: Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Study Objective: The objective of the study was to describe comprehensive CYP21A2 mutation analysis in a large cohort of CAH patients. Methods: Targeted CYP21A2 mutation analysis was performed in 213 patients and 232 parents from 182 unrelated families. Complete exons of CYP21A2 were sequenced in patients in whom positive mutations were not identified by targeted mutation analysis. Copy number variation and deletions were determined using Southern blot analysis and PCR methods. Genotype was correlated with phenotype. Results: In our heterogeneous U.S. cohort, targeted CYP21A2 mutation analysis did not identify mutations on one allele in 19 probands (10.4%). Sequencing identified six novel mutations (p.Gln262fs, IVS8+1G>A, IVS9-1G>A, p.R408H, p.Gly424fs, p.R426P) and nine previously reported rare mutations. The majority of patients (79%) were compound heterozygotes and 69% of nonclassic (NC) patients were compound heterozygous for a classic and a NC mutation. Duplicated CYP21A2 haplotypes, de novo mutations and uniparental disomy were present in 2.7% of probands and 1.9 and 0.9% of patients from informative families, respectively. Genotype accurately predicted phenotype in 90.5, 85.1, and 97.8% of patients with salt-wasting, simple virilizing, and NC mutations, respectively. Conclusions: Extensive genetic analysis beyond targeted CYP21A2 mutational detection is often required to accurately determine genotype in patients with CAH due to the high frequency of complex genetic variation.

Abstract #805: Male Infertility in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

2005 ◽  
Vol 11 ◽  
pp. 4-5
Author(s):  
Shanjian Zhu ◽  
Harris C. Taylor ◽  
Baha Arafah ◽  
Thomas A. Murphy
Keyword(s):  
Male Infertility ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

Late diagnosis of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2006 ◽  
Vol 114 (S 1) ◽  
Author(s):  
K Müssig ◽  
S Kaltenbach ◽  
C Maser-Gluth ◽  
MF Hartmann ◽  
SA Wudy ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Late Diagnosis ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Classic Congenital Adrenal Hyperplasia ◽  
21 Hydroxylase Deficiency

Adrenal morphology in a large cohort of adult subjects with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2019 ◽  
Author(s):  
Claudia Oriolo ◽  
Daniela Ibarra Gasparini ◽  
Paola Altieri ◽  
Francesca Ruffilli ◽  
Francesca Corzani ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Large Cohort ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency
Sign in / Sign up

Export Citation Format

Share Document