Familial Gonadal Malformations

Rucki, T; Simm, S

doi:10.1159/000305295

Cited by 6 publications

(7 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A normal sister in that sibship had a boy with penoscrotal or perineoscrotal hypospadias! A similar sibship was described by Baron et al (1962). Three sex-chromatin negative siblings all had gonadal dysgenesis.…”

Section: Differential Diagnosismentioning

confidence: 55%

“…The Swyer syndrome has been reported in affected sibs and in monozygous twins and is believed to be due to the homozygous state of a recessive mutation, limited in expression to the male sex. The reports by Barr et al (1967), Baron et al (1962), BCdrine et al (1967), and Sternberg et al (1968 suggest not only clinical heterogeneityi.e. the possible existence of "an incomplete form" of the Swyer syndromebut also genetic heterogeneity.…”

Section: Genetic Considerationsmentioning

confidence: 95%

See 1 more Smart Citation

Pseudovaginal perineoscrotal hypospadias

et al. 1972

View full text Add to dashboard Cite

Familial male pseudohermaphroditism represents a group of clinically and genetically heterogeneous conditions. The “complete” or most severe forms of the Swyer syndrome and the “feminizing testes syndrome” (FTS) are easy to diagnose and to differentiate from the other types of genetic male pseudohermaphroditism. This paper deals primarily with one of these conditions: pseudovaginal perineoscrotal hypospadias (PPSH) which presumably is due to the homozygous state of an uncommon recessive gene and which is (classically) characterized by perineoscrotal hypospadias with either a separate perineal vaginal opening or a utricular “pseudovaginal” outpouching of the urethra, cleft scrotum‐like labioscrotal folds, each containing a grossly and microscopically normal testis with epididymis and rudimentary vas deferens, absence of Müllerian duct derivatives, striking virilization at puberty, usually with no or only minimal gynecomastia. The authors report one sporadic and nine familial cases of PPSH from five families and discuss the differential diagnosis of PPSH primarily with respect to the so‐called incomplete feminizing testes syndrome(s) (IFTS), the “Reifenstein syndrome”, and the “incomplete” forms of the Swyer syndrome. The pertinent available reports on PPSH, the IFTS, and the Reifenstein syndrome are abstracted in separate appendices to this paper.

show abstract

Section: Differential Diagnosismentioning

confidence: 55%

Section: Genetic Considerationsmentioning

confidence: 95%

Pseudovaginal perineoscrotal hypospadias

et al. 1972

View full text Add to dashboard Cite

show abstract

“…In support of testicular origin, indeed a logical assumption in 46,XY individuals, are: (1) reports of 46,XY phenotypic females with discernible testicular remnants; [31][32][33] (2) occurrence within a single family of one sib with XY gonadal dysgenesis and another with bilateral dysgenetic testes (see below); [34][35][36] and (3) ultrastructural and conventional histologic studies suggesting that the tumors occurring in XY gonadal dysgenesis arise in dysgenetic testes rather than in dysgenetic ovaries. [37][38][39] Ovarian origin for XY gonadal dysgenesis would initially seem illogical.…”

Section: Nature Of Embryonic Gonadsmentioning

confidence: 99%

Genetic Forms of Gonadal Dysgenesis in 46,XX and 46,XY Individuals

Simpson¹

1983

Semin Reprod Med

View full text Add to dashboard Cite

“…Incomplete forms may exist (Baron et al, 1962;Barr et al, 1967;Chemke et al, 1970). Incomplete forms may exist (Baron et al, 1962;Barr et al, 1967;Chemke et al, 1970).…”

Section: Female Pseudohermaphroditism (Masculinized Females)mentioning

confidence: 99%

Comments on some genetic abnormalities of sex determination and sex differentiation in Homo sapiens

Opitz

1980

Eur J Pediatr

View full text Add to dashboard Cite

Man is a gonochoristic species with male hetero-and female homogamety. The basic plan of gonadal and genital development in both sexes is female unless testes are induced by H-Y antigen which is usually specified by the Y chromosome. Genitalia can develop in either direction in both sexes. In males testosterone produced by testicular Leydig cells causes Wolffian duct differentiation, and the anti-M~illerian hormone, produced by testicular Sertoli cells, causes Miillerian duct regression. Testosterone has to be converted to dihydrotestosterone by a 5a-reductase in endorgans to effect normal male external genital development. Individuals without gonads or with ovaries develop female genitalia--i.e, the female is the "uninduced" sex.Sex determination begins with parental meiosis and extends to the onset of normal gonadogenesis; sex differentiation includes all subsequent sex-developmental processes. Hermaphroditism, a rare condition, is a defect of the former process (gonadogenesis), pseudohermaphroditism, a relatively common condition of the latter (genital differentiation). Male sex development, being actively induced, is much more complicated than in females, and affords many more opportunities for mishap. Gonosomal aneuploidy 59601 rarely disturbs sex development; most intersexes have normal chromosomes. In order of frequency the most common disorders are: 1) hypospadias--technically a form of external male pseudohermaphroditism, but never referred to as such in clinical practice; 2) nonspecific, secondary male pseudohermaphroditism in isolated form or as component manifestation of many malformation syndromes; 3) the adrenogenital syndrome in females. Though less common than hypospadias, the adrenogenital syndrome must always be considered first in order to save life and to prevent recurrence. Genetic abnormalities of sex determination and sex differentiation in man are discussed together with experimental data elucidating the normal processes.

show abstract

Familial Gonadal Malformations

Cited by 6 publications

References 0 publications

Pseudovaginal perineoscrotal hypospadias

Pseudovaginal perineoscrotal hypospadias

Genetic Forms of Gonadal Dysgenesis in 46,XX and 46,XY Individuals

Comments on some genetic abnormalities of sex determination and sex differentiation in Homo sapiens

Contact Info

Product

Resources

About