• Clinical and Experimental Reproductive Medicine
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• 제42권2호
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• pp.72-76
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• 2015

$17{\alpha}$-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In $17{\alpha}$-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the excessive levels of mineralocorticoids lead to volume expansion and hypertension. Females with $17{\alpha}$-hydroxylase deficiency are characterized by primary amenorrhea and delayed puberty, with accompanying hypertension. Affected males usually have female external genitalia, a blind vagina, and intra-abdominal testes. The treatment of this disorder is centered on glucocorticoid and sex steroid replacement. In patients with $17{\alpha}$-hydroxylase deficiency who are being raised as females, estrogen should be supplemented, while genetically female patients with a uterus should also receive progesterone supplementation. Here, we report a case of a 21-year-old female with $17{\alpha}$-hydroxylase deficiency who had received inadequate treatment for a prolonged period of time. We also include a brief review of the recent literature on this disorder.

• Journal of Genetic Medicine
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• 제10권2호
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• pp.81-87
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• 2013

Pseudohypoaldosteronism (PHA), a rare syndrome of systemic or renal mineralocorticoid resistance, is clinically characterized by hyperkalemia, metabolic acidosis, and elevated plasma aldosterone levels with either renal salt wasting or hypertension. PHA is a heterogeneous disorder both clinically and genetically and can be divided into three subgroups; PHA type 1 (PHA1), type 2 (PHA2) and type 3 (PHA3). PHA1 and PHA2 are genetic disorders, and PHA3 is a secondary disease of transient mineralocorticoid resistance mostly associated with urinary tract infections and obstructive uropathies. PHA1 includes two different forms with different severity of the disease and phenotype: a systemic type of disease with autosomal recessive inheritance (caused by mutations of the amiloride-sensitive epithelial sodium channel, ENaC) and a renal form with autosomal dominant inheritance (caused by mutations of the mineralocorticoid receptor, MR). In the kidneys, the distal nephron takes charge of the fine regulation of water absorption and ion handling under the control of aldosterone. Two major intracellular actors necessary for the action of aldosterone are the MR and the ENaC. Impairment of the intracellular aldosterone signal transduction pathway results in resistance to the action of mineralocorticoids, which leads to PHA. Herein, ion handling the distal nephron and the clinico-genetic findings of PHA are reviewed with special emphasis on PHA type 1.

• 한국임상수의학회지
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• 제28권2호
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• pp.244-248
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• 2011

부신피질기능저히증은 부신에서 생산되는 글루코코르티코이드와 미네랄로코르티코이드의 결핍으로 발생한다. 개에서 부신피질기능저하증을 관리하기 위해 fludrocortisone이 사용되어왔다. 그러나 desoxycorticosterone pivalate의 경우 fludrocortisone과 대등한 효과와 보호자와 환자에게 적은 부담을 주기 때문에 최근 몇 년간 부신피질기능저하증 개의 관리를 위해 사용되었다. 임상증상, 전해질불균형, adrenocorticotropic hormone stimulation test를 통하여 부신피질 기능저하증으로 진단된 14마리의 개에서 DOCP의 효과를 분석하였다. DOCP의 초기용량은 2.2 mg/kg 으로 사용되었으며 25일 간격으로 근육 또는 피하로 주사되었다. DOCP의 효능을 보기 위해 25일 간격으로 임상증상, 혈청 전해질 수치, 혈청 요소질소, 크레아티닌 수치를 모니터링 하였다. Fludrocortisones은 개에서 효과적인 치료법이지만 부작용과 불충분한 반응으로 7마리의 개에서 DOCP로의 전환이 필요하였다. 7마리의 개는 처음부터 DOCP가 투약되어 총 14마리의 개가 DOCP로 관리 받았다. 12마리의 개에서 임상증상, 전해질 불균형이 완전히 해소되었으나 2마리의 개에서는 몸 떨림과 같은 약간의 임상증상이 여전히 남아있었다. 4마리의 개는 프레드니손의 정기적 투여가 필요하였다. 이러한 결과를 종합해 보면, fludrocortisone과 비교하여 DOCP가 임상증상과 전해질불균형의 개선에 훨씬 효과적이었으며 이 결과는 부신피질기능저하증 개에서 DOCP가 더 좋은 치료법임을 제시해준다.