An update on the frequency of nonclassic deficiency of adrenal 21-hydroxylase in the Yugoslav population

Abstract. Nonclassic steroid 21-hydroxylase deficiency is an attenuated adrenal enzyme defect that is commonly the basis of hyperandrogenic syndromes. Inherited as an autosomal recessive trait, it is known to occur with high frequency in the general population and with increased frequency in a number of ethnic groups, including the Yugoslav population. Following expansion of the original data on 21 families in Croatia to a total of 49 Croatian and Serbian families, we establish that this enzymatic disorder is increased in this Slavic population and provide an updated estimate for the gene frequency of 0.092 (0.035-0.149). Also in keeping with earlier reports, we continue to note the absence of association between nonclassic 21-hydroxylase deficiency occurring among Yugoslavs and HLA-B14;DR1.

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21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Neonatal Network The Journal of Neonatal Nursing ◽

10.1891/0730-0832.29.3.191 ◽

2010 ◽

Vol 29 (3) ◽

pp. 191-196 ◽

Cited By ~ 3

Author(s):

Amy Shaw

Keyword(s):

Autosomal Recessive ◽

Autosomal Recessive Disease ◽

Adrenal Hyperplasia ◽

Hydroxylase Deficiency ◽

Enzyme Defect ◽

The People ◽

Life Threatening ◽

Males And Females ◽

21 Hydroxylase Deficiency ◽

Autosomal Recessive Pattern

CONONGENITAL ADRENAL hyperplasia (CAH) is an inborn error of metabolism that can produce life-threatening disease in the first one to three weeks of life, unless properly diagnosed and managed. This autosomal recessive disease results in insufficient biosynthesis of cortisol due to an enzyme defect in the adrenal gland. CAH due to 21-hydroxylase (21-OH) deficiency is found in 1/11,000–1/15,000 people in the general population, with a prevalence as high as 1/750 people in some populations such as the Yupik Eskimos in Alaska and the people of La Réunion in France.1 Males and females are equally affected by this disease due to the autosomal recessive pattern of inheritance.

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Genetics of cerebrotendinous xanthomatosis (CTX): An autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin

American Journal of Medical Genetics ◽

10.1002/ajmg.1320100209 ◽

1981 ◽

Vol 10 (2) ◽

pp. 151-157 ◽

Cited By ~ 32

Author(s):

Vladimir M. Berginer ◽

Dvorah Abeliovich ◽

John M. Opitz

Keyword(s):

Gene Frequency ◽

Autosomal Recessive ◽

Cerebrotendinous Xanthomatosis ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

High Gene

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Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

Journal of Veterinary Diagnostic Investigation ◽

10.1177/10406387211007526 ◽

2021 ◽

pp. 104063872110075

Author(s):

Tuddow Thaiwong ◽

Sarah Corner ◽

Stacey La Forge ◽

Matti Kiupel

Keyword(s):

Hair Loss ◽

Autosomal Recessive ◽

Early Death ◽

Deletion Mutation ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

German Shepherd ◽

Hair Coat ◽

Pituitary Dwarfism ◽

Autosomal Recessive Manner

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

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Trimethylaminuria (‘fish-odour syndrome’): A study of an affected family

Clinical Science ◽

10.1042/cs0740231 ◽

1988 ◽

Vol 74 (3) ◽

pp. 231-236 ◽

Cited By ~ 35

Author(s):

Makram Al-Waiz ◽

Riad Ayesh ◽

Stephen C. Mitchell ◽

Jeffrey R. Idle ◽

Robert L. Smith

Keyword(s):

Oral Administration ◽

Inborn Error ◽

Autosomal Recessive ◽

Oral Challenge ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

Challenge Dose ◽

The Third ◽

The Family ◽

Body Odour

1. Beginning with a single propositus, who had been previously diagnosed at the age of 10 as suffering from trimethylaminuria (fish-odour syndrome), both her parents and two sisters were investigated biochemically with respect to their ability to N-oxidize trimethylamine (TMA), both when derived from the diet and when administered exogenously. 2. Both the propositus and a second sister were markedly deficient in their ability to N-oxidize TMA, both when derived from the diet and when given as such; furthermore, both siblings readily developed the symptoms of fish-odour syndrome as characterized by a strong objectionable breath and body odour shortly after the oral administration of TMA (300 mg). 3. At this dose level of TMA, neither of the parents nor the third sister showed any evidence of impaired N-oxidation ability nor did they experience any ‘fish-odour’ symptoms. 4. With an oral challenge of 600 mg of TMA, both the parents showed a clear impairment of N-oxidation capacity which was not seen in six healthy unrelated volunteers. Both parents experienced a fish-odour syndrome at this level of TMA challenge. 5. The family data support the hypothesis that trimethylaminuria is an inborn error in the ability to N-oxidize TMA which is inherited as an autosomal recessive trait. Furthermore, experience with this family suggests that an oral challenge dose with 600 mg of TMA may be used to identify carriers of the condition.

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Arrest of human oocytes during meiosis I in two sisters of consanguineous parents: first evidence for an autosomal recessive trait in human infertility: Case report

Human Reproduction ◽

10.1093/humrep/17.10.2556 ◽

2002 ◽

Vol 17 (10) ◽

pp. 2556-2559 ◽

Cited By ~ 20

Author(s):

H. Schmiady

Keyword(s):

Case Report ◽

Autosomal Recessive ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

Human Oocytes ◽

Meiosis I

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A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

Journal of Pediatric Genetics ◽

10.1055/s-0040-1705110 ◽

2020 ◽

Author(s):

Maria Laura Iezzi ◽

Gaia Varriale ◽

Luca Zagaroli ◽

Stefania Lasorella ◽

Marco Greco ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Autosomal Recessive ◽

Homozygous Mutation ◽

Adrenal Hyperplasia ◽

Phenotype Correlation ◽

Hydroxylase Deficiency ◽

Autosomal Recessive Disorders ◽

Salt Wasting ◽

21 Hydroxylase Deficiency ◽

Recessive Disorders

AbstractCongenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype–phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH.

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Hereditary C2 deficiency: Genetic studies and association with the HL-A system.

Journal of Experimental Medicine ◽

10.1084/jem.141.6.1464 ◽

1975 ◽

Vol 141 (6) ◽

pp. 1464-1469 ◽

Cited By ~ 56

Author(s):

N K Day ◽

R L'Esperance ◽

R A Good ◽

A F Michael ◽

J A Hansen ◽

...

Keyword(s):

Autosomal Recessive ◽

Genetic Factors ◽

Recessive Trait ◽

Autosomal Recessive Trait ◽

Systemic Lupus ◽

Genetic Studies ◽

Large Pedigree ◽

Deficient Patient ◽

Heterozygous Carriers ◽

C2 Deficiency

Herediatary C2-deficiency has been shown to be transmitted asn an autosomal recessive characteristic. Recent evidence indicates that some genetic factors involved in the control of the complement (C) system in both man and mice are governed by genes localized within the major histocompatibility regionmthis study describes a large pedigree of the paternal family of a C2-deficient patient with systemic lupus erythematosusl It is shown that this condition is transmitted as an autosomal recessive trait, the heterozygous carriers having approximately half normal levels of C2. Furthermore, this trait was shown to be inherited in close linkage with an infrequent HL-A typw, 2,4A2. The maternal, C2-defective chromosome was shown to be transmitted by HL-AW10, W18 haplotypemthis same haplotype was described in a similar study by Fu et al. (6) to be associated with C2 deficiencymfinally, a third haplotype HL-A2,W18 carrying a defective C2 gene was demonstrated in a part of this pedigree.

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