Nonclassical Congenital Adrenal Hyperplasia and the Polycystic Ovarian Syndromea

Abstract

PCOS has a hormonal pattern that includes an apparent dysfunction in ovarian steroidogenesis, although the sequence (or sequences) of endocrine changes, possibly with inherent paracrine abnormalities that can establish PCOS, are only postulated. Development of PCOS in the setting of androgen overproduction (or persistent disturbances of the hypothalamic-pituitary-adrenal axis even after normalization of androgen levels) points to adrenal enzyme defects, but the precise interaction of gonad and adrenal cortex via serum steroids remains open. Several interesting schemas for the development of PCOS have been proposed, but the subject remains controversial. Sonographic abnormalities of the ovaries may be similar in women with PCOS and women with adrenal enzyme defects, and differentiation of PCOS from nonclassical 21-hydroxylase deficiency on the basis of pituitary gonadotropin response to LHRH is also nonspecific. The 17-OHP response to ACTH testing is necessary to make the diagnosis (see nomogram). The preliminary data on the subgroup of women with PCOS and nonclassical 21-hydroxylase deficiency indicate that (1) the size of cystic changes of ovaries on sonography and (2) LH:FSH ratios may improve with dexamethasone treatment. Identification of an adrenal enzymatic disorder by ACTH testing is cost-effective in patients with symptoms of androgen excess, offers a good prognosis for improved fertility in couples, and as well is informative in family genetic studies.

The Prevalence of Non-classical Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Greek Women with Hirsutism and Polycystic Ovary Syndrome

“…Congenital adrenal hyperplasia due to 21-OHdef is a well recognized disorder among women with hirsutism and PCOS [25,26]. The prevalence of this enzymatic deficiency in women with hirsutism and PCOS varies between 1%-33%, reflecting the different criteria in the methodology of patient collection and diagnosis of the disease [9-11, 15, 17].…”

The frequency of late-onset 21-hydroxylase and 11 beta-hydroxylase deficiency in women with polycystic ovary syndrome

“…Hirsutism, acne, menstrual abnormalities and infertility are the clinical manifestations of both disorders. In addition, sonographic abnormalities of the ovaries may be similar in women with PCOS and women with adrenal enzyme defects (29,30). Although the classical laboratory findings in PCOS are an elevated level of serum LH and an elevated LH : FSH ratio, this can also be found in LOCAH (17,31,32) and approximately 60% of patients with PCOS do not have this inappropriate gonadotropin secretion (33,34).…”

“…Dewailly et al (17) have found an elevated LH : FSH ratio in 23% of patients with LO 21-OH deficiency. In many patients with PCOS, dexamethasone treatment is associated with a frequency of ovulation, and can reverse symptoms of hyperandrogenism (5,30). The clinical feature suggesting PCOS was identified in 39% of females with diagnosis of LO 21-OH deficiency (17).…”

Importância da dosagem da 17OH-progesterona na síndrome dos ovários policísticos

“…17OHP was the most frequently elevated hormone, suggesting that in addition to screening for CAH, mild increases of this hormone can be used to support PCO diagnosis in an appropriate clinical setting. Mulheres com hiperplasia congênita adrenal (HCSR) de forma não clássica também apresentam como manifestações hirsutismo, acne, irregularidade menstrual, em quadro clínico indistigüível da SOP (3,4). A forma mais comum é por deficiência da enzima 21-hidroxilase.…”