• Clinical and Experimental Reproductive Medicine
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• v.42 no.2
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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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• v.10 no.2
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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.

• Journal of Veterinary Clinics
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• v.28 no.2
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• pp.244-248
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• 2011

Hypoadrenocorticism results from the deficient adrenal gland production of glucocorticoids or mineralocorticoids. Fludrocortisone have been used for the management of hypoadrenocorticism in dogs. But desoxycorticosterone pivalate (DOCP) have been administered for management of hypoadrenocorticism in dogs since several years because of the equivalent effect of fludrocortisone, and lessening of owner and patient's effort. The therapy of DOCP was evaluated in 14 dogs diagnosed with hypoadrenocorticism based on clinical signs, an electrolyte imbalance, and the results of an adrenocorticotropic hormone stimulation test. DOCP was administered at 25-day intervals at an initial dose of 2.2 mg/kg. The dogs were monitored for clinical signs and serum electrolyte, blood urea nitrogen, and creatinine concentrations every 25 days. Fludrocortisone was an effective treatment in dogs overall; however, a change to DOCP was necessary in 7 dogs because of adverse effects or poor responses. Another 7 dogs were treated with DOCP from the first time. A total of 14 dogs were treated with DOCP. Clinical signs and electrolyte imbalance resolved completely in 12 dogs. However, mild clinical signs, such as shivering, remained in 2 dogs, and 4 dogs required regular supplementation with prednisone. Improvements in clinical signs and electrolyte imbalance were significantly better after treatment with DOCP than with fludrocortisone. The results suggest that DOCP may be a better choice than fludrocortisone for the management of hypoadrenocorticism in dogs.