PSEUDOHERMAPHRODITISM WITH MULTIPLE CONGENITAL ANOMALIES

ABSTRACT The anatomic findings and gonadal histology of 41 patients who had atypical forms of gonadal dysgenesis or of male pseudohermaphroditism are described. Fourteen of these cases were classified as atypical gonadal dysgenesis because there were gross evidences of abnormal gonadal development, differing from those of classical Turner's syndrome. In this group there was no incidence of familial inheritance but there were evidences of chromosomal aberrations. Two patients diagnosed as »gonadal dysplasia« had primitive genital streaks differing from those of typical gonadal aplasia (Turner's Syndrome) only in the presence of masses of Leydig-like cells. That this condition is a variant of gonadal aplasia is suggested by the association of short stature in one case and by the demonstration in the other case of chromosomal mosaicism of XO/XX pattern, with the XO cell type predominant as in chromatin-negative Turner's Syndrome. Ten patients had »asymmetrical gonadal differentiation« with a testis on one side and on the other side either no gonad (2 cases), a primitive genital streak (6 cases) or an undifferentiated gonad (2 cases). Among these mosaicism of XO/XY type was demonstrated in one case and it is suspected that more intensive chromosomal studies in the future may show a high incidence of mosaicism or other chromosomal aberration in this group. In addition 2 cases of true hermaphroditism are described. There were 27 male pseudohermaphrodites who had two testes with no histological evidences of dysgenesis. Eight of these patients had female external genitalia and 19 had genitalia which were ambiguous or resembled the male. In 4 patients of the latter group there were completely developed uterus and Fallopian tubes. Since the testes of all the male hermaphrodites showed good development of the medullary components believed to be responsible for male differentiation, it must be assumed that there was a defect in the biosynthesis of the »male organizing substances« of the foetal testes. Normal male XY chromosomal patterns were found in all of our cases which were studied and have been reported by other workers. The high familial incidence of this disorder suggests that an enzyme defect is transmitted by a mutant gene. In the »syndrome of feminizing testes« the demonstration of oestrogenic manifestations after puberty is further evidence of an abnormality of synthesis of testicular hormones. The correlation of gonadal pathology and the sex differentiation of gonaducts and external genitalia is compatible with the theory of Jost that normal masculinization is dependant upon the production of adequate amounts of masculinizing substances by the foetal testes. Discordances between the degree of masculinization (or feminization) of the gonaducts and the external genitalia can be explained only by postulating that there are at least two substances concerned; one causing masculinization of the Wolffian ducts and external genitalia and the other causing disappearance of the Mullerian ducts.

Download Full-text

Smith-Lemli-Opitz syndrome-type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

American Journal of Medical Genetics ◽

10.1002/ajmg.1320260110 ◽

1987 ◽

Vol 26 (1) ◽

pp. 45-57 ◽

Cited By ~ 175

Author(s):

Cynthia J. R. Curry ◽

John C. Carey ◽

Julie S. Holland ◽

Devinder Chopra ◽

Robert Fineman ◽

...

Keyword(s):

Congenital Anomalies ◽

Male Pseudohermaphroditism ◽

Syndrome Type ◽

Type Ii ◽

Multiple Congenital Anomalies ◽

Opitz Syndrome ◽

Early Lethality

Download Full-text

Scanning and Transmission Electron Microscopy of the Endometrium in Women with Ovarian Dysgenesis (Turner'S Syndrome)

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100090725 ◽

1976 ◽

Vol 34 ◽

pp. 148-149

Author(s):

A. González-Angulo ◽

S. Armendares-Sagrera ◽

I. Ruíz de Chávez ◽

H. Marquez-Monter ◽

R. Aznar

Keyword(s):

Surface Epithelium ◽

Secretory Cells ◽

Turner's Syndrome ◽

Ciliated Cells ◽

Turner’S Syndrome ◽

Exogenous Hormone ◽

Ovarian Dysgenesis ◽

Transmission Electron ◽

Normal Women ◽

Microscopy Examination

It is a well documented fact that endometrial hyperplasia and adenocarcinoma may develop in women with Turner's syndrome who had received unopposed estrogen treatment (1), as well as in normal women under contraceptive medication with the sequential regime (2). The purpose of the present study was to characterize the possible changes in surface and glandular epithelium in these women who were treated with a sequential regime for a period of between three and eight years. The aim was to find organelle modifications which may lead to the understanding of the biology of an endometrium under exogenous hormone stimulation. Light microscopy examination of endometrial biopsies of nine patients disclosed a proliferative pattern; in two of these, there was focal hyperplasia. With the scanning electron microscope the surface epithelium in all biopsies showed secretory cells with microvilli alternating with non secretory ciliated cells. Regardless of the day of the cycle all biopsies disclosed a large number of secretory cells rich in microvilli (fig.l) with long and slender projections some of which were branching (fig. 2).

Download Full-text

ON THE FREQUENCY OF MALFORMATIONS IN THE DIFFERENT FORMS OF TURNER'S SYNDROME

Acta Endocrinologica ◽

10.1530/acta.0.077s048 ◽

1974 ◽

Vol 77 (1_Suppl) ◽

pp. S48 ◽

Cited By ~ 5

Author(s):

F. Majewski ◽

J. R. Bierich ◽

M. Barz ◽

W. F. Haberlandt ◽

M. Stoeckenius

Keyword(s):

Turner's Syndrome ◽

Turner’S Syndrome

Download Full-text

EVALUATION OF THE HYPOTHALAMIC-PITUITARY-GONADAL AXIS BY LHRH IN CHILDREN AND ADOLESCENTS WITH KLINEFELTER'S AND TURNER'S SYNDROME

Acta Endocrinologica ◽

10.1530/acta.0.077s026 ◽

1974 ◽

Vol 77 (1_Suppl) ◽

pp. S26 ◽

Cited By ~ 1

Author(s):

R. Illig ◽

M. Tolksdorf ◽

G. Mürset ◽

A. Prader

Keyword(s):

Children And Adolescents ◽

Turner's Syndrome ◽

Turner’S Syndrome

Download Full-text

Growth and development in girls with Turner's syndrome during early therapy with low doses of estradiol

Acta Endocrinologica ◽

10.1530/acta.0.112s157 ◽

1986 ◽

Vol 113 (4_Suppl) ◽

pp. S157-S163 ◽

Cited By ~ 8

Author(s):

K.W. KASTRUP ◽

_ _

Keyword(s):

Growth Velocity ◽

Final Height ◽

Bone Age ◽

Growth Spurt ◽

First Year ◽

Turner's Syndrome ◽

Turner’S Syndrome ◽

Early Therapy ◽

Group I ◽

Group Ii

Abstract Early therapy with a low dose of estrogen (estradiol-17β) was given to 33 girls with Turner's syndrome (T.s.) for a period of 4 years. The dose (0.25-2 mg/day) was adjusted every 3 months to maintain plasma estradiol in the normal concentration range for bone age. Growth velocity was compared with that of untreated girls with T.s. All girls were above age 10 years. Bone age was below 10 years in 11 girls (group I) and above 10 years in 22 girls (group II). Growth velocity in the first year of treatment in group I 7.5 ± 1.3 cm (SD) with mean SD score (SDS) of +4.3 and in group II 4.9 ± 1.3 with mean SDS of +3.5. Growth velocity decreased in the following years to 1.6 ± 1.0 cm, SDS -1.44 in group I and 0.9 ± 0.6cm, SDS -2.34 in group II during the fourth year. Withdrawal bleeding occurred in 16 girls of group II after the mean of 23 (range 15-33) months and in 3 girls of group I after 15 to 51 months of treatment. The treatment did not cause an inappropriate acceleration of pubertal development. Breast development appeared in most girls by 3 months of treatment. Pubic hair appeared by 12 months of treatment in group I; it was present in most girls in group II at start of treatment. Final height is known for 12 girls of group II; it was 144.2 ± 4.5 cm. The final height as predicted at the start of therapy was 142.2 ± 5.3 cm. Bone age advanced in the first year of treatment by 2 years. Early treatment with small doses of estrogens induces a growth spurt and normalizes the events of puberty. This will presumably decrease the psychological risks associated with abnormally delayed development.

Download Full-text

A highly sensitive sandwich enzyme immunoassay of urinary growth hormone in children with short stature, Turner's syndrome, and simple obesity

Acta Endocrinologica ◽

10.1530/acta.0.1210513 ◽

1989 ◽

Vol 121 (4) ◽

pp. 513-519 ◽

Cited By ~ 6

Author(s):

Hiroshi Tomita ◽

Masamichi Ogawa ◽

Takashi Kamijo ◽

Osamu Mori ◽

Eiji Ishikawa ◽

...

Keyword(s):

Short Stature ◽

Enzyme Immunoassay ◽

Gh Deficiency ◽

Urine Samples ◽

Turner's Syndrome ◽

Turner’S Syndrome ◽

Highly Sensitive ◽

Significant Difference ◽

Simple Obesity ◽

Sandwich Enzyme Immunoassay

Abstract. GH values were determined by a highly sensitive sandwich enzyme immunoassay in the 1st morning and/or 24-h accumulated urine samples in 94 children (short stature 70, including 14 with complete GH deficiency, 9 with partial GH deficiency, and 47 with GH-normal short stature; Turner's syndrome, 10, and simple obesity, 14). GH values were also determined in the 2nd to 4th urine samples taken on the same day together with the 1st morning urine in 5 of them. GH values in the 1st morning urine correlated significantly with those of the 24-h urine and with serum peak and mean GH values during nocturnal sleep as a physiological GH secretion test. The 2nd to 4th urines had lower GH concentrations than the 1st morning urine. The GH value of the 1st morning urine in complete GH deficiency was significantly lower than those in GH-normal short stature, partial GH deficiency and Turner's syndrome. However, no significant difference was detected in urinary GH values between complete GH deficiency and simple obesity. We conclude that 1st morning urinary GH estimation may be useful for differentiation of complete GH deficiency from other causes of short stature, but may be difficult for the distinction between complete GH deficiency and obesity with normal GH secretory ability.

Download Full-text