Complete Masculinization of the External Genitalia in Congenital Adrenocortical Hyperplasia. Presentation of Two Cases

Maxted, William C.; Baker, Roger; McCrystal, Hugh; Fitzgerald, Edmund

doi:10.1016/s0022-5347(17)63613-9

Cited by 15 publications

(7 citation statements)

References 8 publications

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“…A review of the literature reveals that such extreme forms of female pseudoher maphroditism are rare events in CAH and have been reported only sporadically [27][28][29][30][31][32][33][34][35]. In most of these cases a defect in 21-hydroxylation was responsible for the virili zation, but 11 p-hydroxylase deficiency was the cause in at least 7 instances [30,31,[33][34][35]. Although the clinical and laboratory findings in our patients would suggest an incomplete defect, it is reasonable to assume that a direct relationship may exist between the degree of enzyme deficiency and the se verity of virilization.…”

Section: Discussionmentioning

confidence: 99%

Clinical Variability of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

Rösler¹,

Leiberman

Sack

et al. 1982

Horm Res

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Studies in 18 Jewish families from Morocco, Tunis, Turkey and Iran revealed 26 patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. The clinical expression of androgen excess varied widely in the affected females, and range from solely enlarged clitoris in the mildest forms to severely hypertrophied clitoris with penile urethra and fused labial-scrotal folds in the most extreme forms of masculinization. Intermediate degrees of severity were manifested by ambiguous genitalia. There was no correlation between the degree of virilization and the signs of mineralocorticoid excess. Severe volume-induced hypertension leading to vascular accidents and death were also observed in severe as well as in mildly virilized patients, while completely masculinized females were sometimes normotensive. Overt hypokalemia was present in 6 patients but was not a constant feature of hypertensives. However, all affected individuals, except for 2 infants, had very low levels of plasma renin activity suggesting that a state of volume expansion was indeed present in the majority of cases, even though changes in blood pressure did not always occur. The clinical expression of this disorder is characterized by a wide range of variability in the signs of both androgen and mineralocorticoid excess, which do not necessarily correlate with the quantity of hormones secreted.

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Section: Discussionmentioning

confidence: 99%

Clinical Variability of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

Rösler¹,

Leiberman

Sack

et al. 1982

Horm Res

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“…The result is large muscular child but short adult. Menses and breast development are suppressed by elevated serum androgen [5].…”

Section: Hydroxylase Deficiencymentioning

confidence: 99%

Disorders of Sexual Differentiation: A study on the Incidence and Types of Female Pseudo Hermaphrodites

Radhika¹,

Bhuvaneswari²,

Chowdhury³

2016

IJIMS

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“…4~6 . Dentro de esta casuistica, Prader describio 7 nifios con uretra falica completa; todos eran perdedores de sal 6 .…”

Section: Discusionunclassified

Virilización total en una mujer: forma poco usual de presentación de la hiperplasia suprarrenal congénita

A¹,

G²,

W³

et al. 1988

Rev. chil. pediatr.

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Congenital adrenal hyperplasia presenting as total virilism in a 4 year old child 4.5 year old patient presented with pubic hair, phallic enlargement, accelerated growth and no palpable gonads within the scrotum neither the inguinal area. Nuclear chromatin was positive. Bone age was 7 years. In two separate 24 h urine collections, 17 cetosteroids and pregnanetriol were elevated. Serum 17 hydroxiprogesterone, A 4 androstenedione, dehidroepiandrosterone and testosterone were also elevated, while deoxycorticosterone, corticosterone, follicle stimulating hormone and luteinizing stimulating hormone were normal. Plasma cortisol did not increase after synacthen-rapid administration, Urinary adrenal steroid were supressed by dexamethasone. Pelvic ecothomography showed normal internal female genitalia. Non salt losing congenital adrenal hyperplasia was thus diagnosed. Histerectomy and oophorectomy were performed based on her psychological adaptation to male gender. (Key words: adrenal hyperplasia, congenital, non salt losing, virilism, puberty, precocius.) La hiperplasia suprarrenai congenita (HSC) comprende una serie de alteraciones hereditarias de la esteroidogenesis, siendo el deficit de la 21 hidroxilasa (21-OH) la forma mas frecuente de presentation y la causa mas comun de genitales ambiguos en la mujer.El grado de virilizacion de los genitales externos se relaciona con la cuantfa de la sobreproduccion de androgenos y el peri'odo del desarrollo fetal en que esta se inicia.En las nifias mas severamente masculinizadas se pueden encontrar, excepcionalmente, estructuras prostaticas, fusion completa de labios y formation de uretra peneana, correspondiendo al grado V de la clasificacion de Prader l~4 . Esta forma de presentacion es rara: nemos encontrado 14 casos publicados en la literatura 4^6 , por lo que parece de interes presentar un paciente con dichas caracterfsticas.

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Complete Masculinization of the External Genitalia in Congenital Adrenocortical Hyperplasia. Presentation of Two Cases

Cited by 15 publications

References 8 publications

Clinical Variability of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

Clinical Variability of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

Disorders of Sexual Differentiation: A study on the Incidence and Types of Female Pseudo Hermaphrodites

Virilización total en una mujer: forma poco usual de presentación de la hiperplasia suprarrenal congénita

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Complete Masculinization of the External Genitalia in Congenital Adrenocortical Hyperplasia. Presentation of Two Cases

Cited by 15 publications

References 8 publications

Clinical Variability of Congenital Adrenal Hyperplasia due to 11&beta;-Hydroxylase Deficiency

Clinical Variability of Congenital Adrenal Hyperplasia due to 11&beta;-Hydroxylase Deficiency

Disorders of Sexual Differentiation: A study on the Incidence and Types of Female Pseudo Hermaphrodites

Virilización total en una mujer: forma poco usual de presentación de la hiperplasia suprarrenal congénita

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Clinical Variability of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

Clinical Variability of Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency