Familial Male Pseudohermaphrodism With Labial Testes and Partial Feminization: Endocrine Studies and Genetic Aspects

Lubs, Herbert A.; Vilar, O.; Bergenstal, Delbert M.

doi:10.1210/jcem-19-9-1110

Cited by 101 publications

(29 citation statements)

References 8 publications

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“…Federman (16) Jost (17) (19), Gilbert-Dreyfus, Savoie, Sebaoun, Alexandre, and Belaisch (20), and Reifenstein (21). In all of these cases the first step in masculinization was accomplished, i.e.…”

Section: Discussionmentioning

confidence: 99%

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

New¹

1970

J. Clin. Invest.

212

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A B STRA CT This is the first report of a male with 17a-hydroxylase deficiency resulting in male pseudohermaphroditism, ambiguous external genitalia, absence of male secondary sexual characteristics, and gynecomastia at puberty. Diagnosis was based on extensive studies of steroid metabolism including the following: low urinary excretion of 17-ketosteroids and 17-hydroxycorticoids which did not increase after ACTH; no response of very low plasma testosterone and dehydroepiandrosterone to adrenocorticotropin (ACTH) or chorionic gonadotropin; and low urinary aldosterone and plasma renin which increased after dexamethasone. Secretion rates of 17-hydroxylated steroids, cortisol (F) and 11-desoxycortisol (S), were very low while desoxycorticosterone (DOC) and corticosterone (B)

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Section: Discussionmentioning

confidence: 99%

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

New¹

1970

J. Clin. Invest.

212

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“…These consist of a small phallus, perineal hypospadias, bifid scrotum, pseudovagina and, at puberty, gynecomastia with incomplete virilization and azoospermia. These manifestations are seen in the syndrome described by Reifenstein (71,72), Rosewater (73), Gilbert-Dreyfus (74) and Lubs (75) and their associates. Wilson et al (76) provided evidence that the abnormality in one family with Reifenstein syndrome was due to diminished end-organ sensitivity to androgen, rather than decreased androgen secretion as previously suggested.…”

Section: Partial Androgen Insensitivitvmentioning

confidence: 92%

Cultured human skin fibroblasts: a model for the study of androgen action

Brown

Migeon

1981

Mol Cell Biochem

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Human skin may be considered as a target organ for androgens, as are male sex accessory organs, since all events involved in testosterone action have been observed in this tissue. As a corollary, the mechanism of androgen action can be studied in vitro in cultured skin fibroblasts. The advantages of this system are that studies can be performed with intact human cells under carefully controlled conditions, differentiated genetic and biochemical characteristics of the cells are faithfully preserved and the biological material is renewable from a single biopsy specimen. The metabolism of androgens, in particular the 5 alpha-reduction of testosterone to the active metabolite, dihydrotestosterone, the intracellular binding of androgen to its specific receptor protein and its subsequent translocation to the nucleus have been studied in skin fibroblasts. The intracellular androgen receptor content of genital skin fibroblasts is higher than that from nongenital skin sites. In addition, the androgen receptor has been characterized as a specific macromolecule with properties of high affinity and low capacity similar to that of other steroid hormone receptors. The pathophysiology of three genetic mutations which alter normal male sexual development and differentiation has been identified in the human skin fibroblast system. In 5 alpha-reductase deficiency, an autosomal recessive disorder in which dihydrotestosterone formation is impaired, virilization of the Wolffian ducts is normal but the external genitalia and urogenital sinus derivatives are female in character. At least two types of X-linked disorders of the androgen receptor exist such that the actions of both testosterone and dihydrotestosterone are impaired and developmental abnormalities may involve both Wolffian derivatives and the external genitalia as well. These two forms of androgen insensitivity result from either the absence of androgen receptor binding activity (receptor (-) form) or apparently normal androgen receptor binding with absence of an appropriate biological response (receptor (+) form). In addition, studies with human skin fibroblasts may also be of value in defining the cellular mechanisms underlying the broad spectrum of partial defects in virilization. In summary, we have correlated our studies of the molecular mechanism of androgen action in human genital skin fibroblasts with those of other investigators as these studies contribute to our understanding of male sexual development and differentiation.

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“…(J Clin Endocr 32: 604, 1971) T HE MOST COMMON form of familial male pseudohermaphroditism with breast development is the testicular feminization syndrome (1). However, several families have also been reported in which gynecomastia has been associated with malformations of the external genitalia of different degrees (2)(3)(4)(5)(6)(7)(8) and in these cases the etiologic mechanisms for both the gynecomastia and the ambiguous genitalia have not been elucidated.…”

mentioning

confidence: 99%

Familial Male Pseudohermaphroditism with Gynecomastia Due to a Testicular 17-Ketosteroid Reductase Defect. I. Studiesin Vivo

Saez

Peretti

Morera

et al. 1971

The Journal of Clinical Endocrinology & Metabolism

169

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A patient with familial male pseudohermaphroditism was considered to be a normal female up to the time of puberty. At puberty, she had normal breast development but there was simultaneous enlargement of the clitoris and the body hair developed with a male distribution. The internal genitalia were male in type. Under basal conditions, the plasma concentration of testosterone (T) was low for a male subject but plasma levels of dehydroepiandrosterone (DHA) and dehydroepiandrosterone sulfate (DHAS) were 2-3 times higher than those of normal men. The plasma level of androstenedione (A) was 10 times normal. Following gonadectomy, the pattern of plasma androgens was similar to that of a normal woman. Prior to operation, the basal urinary excretion of estrone, estradiol and estriol was much increased above that of a normal man but it became normal after gonadectomy. Eighteen months after gonadectomy, both before and after adrenal stimulation, the plasma androgens showed the pattern and concentrations expected in the normal adult female. The same could be said of the peripheral in terconversion between T & A. The data strongly suggest that the patient had an incomplete 17-ketosteroid reductase defect and that this defect was limited to the testes. (J Clin Endocr 32: 604, 1971)

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Familial Male Pseudohermaphrodism With Labial Testes and Partial Feminization: Endocrine Studies and Genetic Aspects

Cited by 101 publications

References 8 publications

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

Male pseudohermaphroditism due to 17α-hydroxylase deficiency

Cultured human skin fibroblasts: a model for the study of androgen action

Familial Male Pseudohermaphroditism with Gynecomastia Due to a Testicular 17-Ketosteroid Reductase Defect. I. Studiesin Vivo

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