Genital anomalies in childhood.
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Female↗
Biomedical subjects
R Azziz
Publications and source records attributed to R Azziz.
Congenital adrenal hyperplasia: long-term results following vaginal reconstruction.
Forty-two women with virilizing congenital adrenal hyperplasia who had attempted coitus were studied retrospectively a mean of 23.6 years after vaginal repair. Satisfactory intercourse, as defined by the patient, was observed in 62% of the subjects. The functional success rate was higher if repeat operations were performed after the age of 16 years (61% versus 12%, P less than 0.05) or if the patient suffered from the non-salt-losing variety of the disorder (87% versus 46%, P less than 0.05). The outcome of the initial attempt to exteriorize the vagina did not differ significantly by age at surgery. In cases of moderate virilization, vaginal repair may be delayed until the patient's menarche, maturity, and desires for sexual activity are well established. Clitoroplasty should be performed as soon as possible.
Adolescent↗
Adenomyosis in pregnancy. A review.
Adenomyosis of the gravid uterus has been considered a rare condition, associated with a high incidence of obstetric and/or surgical complications. In addition, various studies have claimed that the adenomyotic implants hormonally respond only to estrogen. A careful review of the literature does not support these notions. The incidence of adenomyosis in the gravid uterus appears to be about 17%. However, 80 years' worth of literature contains only 29 reports of associated obstetric complications. There is also ample evidence of adenomyosis demonstrating progesterone effects within the hormonal milieu of pregnancy.
Adult↗
The Hispanic patient.
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Communication Barriers↗
Heritability and the risk of developing androgen excess.
Androgen excess is one of the most common reproductive endocrinologic abnormalities of women. Excluding specific etiologies such as androgen-secreting neoplasms and non-classic adrenal hyperplasia, the majority of androgen excess is functional in nature. It is clear that studies concerned with the heritability of this disorder greatly depend on how it is defined. Patients with the PolyCystic Ovary Syndrome (PCOS) are clearly included. However, we argue that ovulatory women with hirsutism and hyperandrogenemia should also be considered as affected which, together with PCOS, comprise the population of women we define as having Functional Androgen Excess (FAE). Our data, and that of others, suggests that FAE/PCOS is a familial disorder, with a single autosomal dominant gene effect and a variable phenotype. Inheritance appears to be equally probable from the maternal as from the paternal side of the family. Nonetheless, our data also suggests that the affection rate among mothers is less than expected, which may be due to decreased fertility of affected mothers, or to our inability to detect the disorder in older, menopausal or hormonally treated individuals. Finally, it appears that a woman's risk for developing PCOS is approximately 40% if her sister is affected. While considering FAE/PCOS to be a dominant genetic disorder with a high degree of expressivity, its highly variable phenotype suggests that besides a single genetic mutation other factors must be contributing to the development and expression of the disorder. These factors may include environmental influences (such as fat and carbohydrate consumption) exercise level, peripubertal stress and/or hormonal exposure; and additional genetic defects, such as those that regulate insulin secretion or determine body type.
Female↗
The 21-hydroxylase-deficient adrenal hyperplasias: more than ACTH oversecretion.
Twenty-one hydroxylase (21-OH)-deficient classic adrenal hyperplasia (CAH) and nonclassic adrenal hyperplasia (NCAH) are two of the most common genetic disorders known to man, yet the mechanism(s) resulting in steroid excess remains unclear. Overactivation of the hypothalamic-pituitary-adrenal (HPA) axis and increased ACTH secretion appear to be important mechanisms resulting in steroid excess in untreated patients, at least in the classic forms of the disorder. Nonetheless, most NCAH patients do not demonstrate overactivity of the HPA axis. A few of these patients may demonstrate a mild degree of ACTH hyper-responsiveness to corticotropin-releasing hormone stimulation, and up to 40% have radiologic evidence of adrenocortical hyperplasia and/or isolated adenomas, suggesting that some degree of chronic ACTH excess is present. Another mechanism resulting in adrenocortical excess in adrenal hyperplasia, and primarily in NCAH, follows the alteration in enzyme kinetics resulting from the mutation of 21-OH. The mutated enzyme product is less efficient than the wild type, resulting in an increased precursor to product ratio, independent of ACTH levels. Hence, progesterone (P4) and 17-hydroxyprogesterone (17-HP) levels in these patients may remain above normal even in the presence of excess glucocorticoid administration. Overactivity of the renin-angiotensin system may also be important in stimulating adrenocortical steroidogenesis in patients with salt-wasting and in some with simple virilizing CAH. Alterations in ovarian and gonadotropic function, with the appearance of a polycystic ovary-like picture, also contribute to the androgen excess of these patients. Functional ovarian abnormalities in patients with CAH or NCAH may relate to a number of causes, including prenatal masculinization of the hypothalamic-pituitary-ovarian (HPO) axis by adrenal androgens, continued disruption of the HPO axis by persistently elevated P4 or androgen levels, and/or a direct glucocorticoid effect. Finally, these data suggest that the measurement of P4 or 17-HP may not be the most accurate marker of therapeutic efficacy, and suppression of both the ovaries and adrenals may be necessary for optimum steroidogenic control.
Adrenal Hyperplasia, Congenital↗