congenital adrenal hyperplasia and schmid metaphyseal chondrodysplasia in a child

نویسندگان

efat khorasani department of pediatric endocrinology, imam reza hospital, mashhad university of medical sciences, mashhad, iran

rahim vakili department of pediatric endocrinology, imam reza hospital, mashhad university of medical sciences, mashhad, iran

چکیده

congenital adrenal hyperplasia (cah) is a group of hereditary diseases, which are autosomal recessive. cah occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. in this article, we report a case of cah and schmid metaphyseal dysplasia. our literature review indicated that this report is the first attempt on cyp11b1 and schmid dysplasia in a child. the specific diagnosis of 11-β-hydroxylase deficiency can be determined using high basal levels of deoxycorticosterone and/or 11-deoxycortisol serums.

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منابع مشابه

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

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Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child.

Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

متن کامل

A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

Shinji Higuchi1, Masaki Takagi1, 2, Satoshi Shimomura3, Gen Nishimura4, and Yukihiro Hasegawa1, 2 1Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 2Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 3Department of Orthopedics, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 4Department of Radiology, Tokyo ...

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Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.

BACKGROUND The Schmid type of metaphyseal chondrodysplasia (MCDS) is generally due to mutations in COL10A1 encoding for type X collagen of cartilage. METHODS We performed a study on the genes coding for the RNA components of RNase MRP (MRPR) and RNase P (H1RNA) among 20 patients with diagnosis of MCDS and no mutations in COL10A1. RESULTS Two patients were found to be homozygous for a base s...

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Long-term treatment of a child with congenital adrenal hyperplasia

Background Congenital adrenal hyperplasia (CAH) is one of the autosomal recessive disorder caused by an enzyme deficiency or defect in one of five enzymatic steps which are required for the biosynthesis of adrenal steroid. CAH could be a medical and social crisis, and especially in South Sumatera, Indonesia it is also associated with cultural problems. Natural history of CAH without treatment c...

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Identification of key genes associated with Schmid-type metaphyseal chondrodysplasia based on microarray data

This study aimed to gain a better understanding of the molecular circuitry of Schmid-type metaphyseal chondrodysplasia (SMCD), and to identify more potential genes associated with the pathogenesis of SMCD. Microarray data from GSE72261 were downloaded from the NCBI GEO database, including collagen X p.Asn617Lys knock-in mutation (ColXN617K), ablated XBP1 activity (Xbp1CartΔEx2), compound mutant...

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عنوان ژورنال:
iranian journal of medical sciences

جلد ۴۱، شماره ۱، صفحات ۶۴-۰

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