Nonclassical Congenital Adrenal Hyperplasia and the Polycystic Ovarian Syndrome a

@article{New1993NonclassicalCA,
  title={Nonclassical Congenital Adrenal Hyperplasia and the Polycystic Ovarian Syndrome a},
  author={Maria I. New},
  journal={Annals of the New York Academy of Sciences},
  year={1993},
  volume={687}
}
  • M. New
  • Published 1 May 1993
  • Medicine, Biology
  • Annals of the New York Academy of Sciences
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… 

Polycystic Ovary Syndrome: A Mysterious Ailment

The involvement of androgen excess (hyperandrogenism), neuroendocrine abnormalities (alteration in GnRH pulse, LH, FSH) and genetics (FMR1) in the pathogenesis of PCOS is explained.

Congenital Adrenal Hyperplasia: Unresolved Issues.

Prenatal treatment with dexamethasone is available to avoid ambiguous genitalia in females affected with classical CAH and the detection of cell-free fetal DNA in maternal plasma has made it possible to make this diagnosis earlier and noninvasively.

The prevalence of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Greek women with hirsutism and polycystic ovary syndrome.

Adrenal NC-CAH due to 21-OHdef as well as adrenal hyperactivity, revealed after ACTH testing, constitutes an important reason of hirsutism and PCOS in these Greek women and both reach a rate of 20%.

Congenital Adrenal Hyperplasia

A 31-year-old woman with infertility and polycystic ovaries diagnosed with non-classic congenital adrenal hyperplasia due to a novel CYP21 mutation

This case confirms the necessity of adding an analysis of 17-OHP when evaluating women with hirsutism and menstrual disturbances and if an elevated value is found, the advantage of performing a mutation analysis to facilitate counseling and decisions on treatment.

Late-onset Congenital Adrenal Hyperplasia or Early-onset Polycystic Ovarian Syndrome: A Clinical Dilemma

There is significant overlapping between PCOS and NCCAH, which warrants accurate diagnosis based on hormonal analysis to institute early and appropriate therapy to prevent infertility and androgenic complications later in life.

The prevalence of late onset congenital adrenal hyperplasia in hirsute women from Central Anatolia.

The most frequent form of LO CAH seems to be due to 21 OH deficiency among women with PCOS and IH in Central Anatolia, which is likely to be the main reason of hyperandrogenemia in women with hirsutism.

The role of imaging in congenital adrenal hyperplasia.

A narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging is conducted.

Congenital Adrenal Hyperplasia Because of 21-Hydroxylase Deficiency: A Genetic Disorder of Interest to Obstetricians and Gynecologists

The reader should be able to recall the epidemiology of carrier status for 21-hydroxylase deficiency, identify phenotypic characteristics for classic and non-classic congenital adrenal hyperplasia, and describe the consequences of 21-Hydroxylases block with respect to production of other hormones and enzymes.

Endocrinology of Hirsutism: From Androgens to Androgen Excess Disorders.

An overview of the principal endocrinological aspects of hirsutism including the role of androgens in excessive hair growth and associated androgen excess disorders is provided.

References

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Plasma T, androstenedione, and 11-deoxycortisol responses to metyrapone were excessive in PCOS patients, thus indicating a specific adrenal abnormality.

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A theory for the pathogenesis of the polycystic ovary syndrome is proposed that explains the endocrinologic abnormalities of the syndrome and provides a rational approach to therapy and suggests that several causes exist.

Ovarian 17-ketosteroid reductase deficiency as a possible cause of polycystic ovarian disease.

It is strongly supported that ovarian 17-KSR defect may cause a syndrome closely resembling PCOD, and genetic control of this enzyme similar in both sexes in men and women in the same family is demonstrated.

Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia.

  • B. KohnL. Levine M. New
  • Medicine, Biology
    The Journal of clinical endocrinology and metabolism
  • 1982
Hormonal studies and human leukocyte antigen (HLA) genotyping were performed in 5 males and 13 females who were demonstrated to have 21-hydroxylase deficiency, and hormonal and genetic linkage data indicate that cryptic (asymptomatic) and late-onset (symptomatic).

The incidence of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency among hirsute women.

Severe hirsutism, virilization, early onset of symptoms, short stature, familial occurrence, and regular menses were identified as the clinical characteristics associated with late-onset CAH.

Late-onset adrenal hyperplasia in hirsutism.

The role of skin sensitivity to androgens is important in determining the clinical expression of this disorder, and a high correlation between late-onset adrenal hyperplasia and HLA antigens B14 and Aw33 is found.
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