Cases reported "Gonadal Dysgenesis"

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1/5. 46,XX pure gonadal dysgenesis with growth hormone deficiency and impaired 3 beta-hydroxysteroid dehydrogenase activity.

    patients with 46,XX pure gonadal dysgenesis generally are of normal stature and have less than usual amounts of pubic and axillary hair. We report on a patient who presented at age 11.9 years with short stature, absence of breast development, and excessive pubic hair. Her karyotype in leukocytes, fibroblasts, and streak gonad was 46,XX. The patient was diagnosed as having growth hormone deficiency. Elevated ACTH stimulated levels of 17-hydroxypregnenolone and dehydroepiandrosterone and elevated ACTH stimulated ratio of 17-hydroxypregnenolone to 17-hydroxyprogesterone suggested inadequate adrenal 3 beta-hydroxysteroid dehydrogenase activity. Treatment with growth hormone resulted in improvement in growth velocity and replacement with estrogen in feminization. We suggest that the finding of short stature in patients with 46,XX pure gonadal dysgenesis should not be attributed to the syndrome, but rather requires investigation for possible growth hormone deficiency. The poor growth of our patient prior to growth hormone replacement implies that dehydroepiandrosterone, unlike testosterone and estrogen, is ineffective in promoting linear growth in the absence of adequate growth hormone.
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keywords = feminization
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2/5. Testicular feminization syndrome in the neonate.

    If we see a young, phenotypically female patient with an XY karyotype, it is of great importance to differentiate between the testicular feminization syndrome and gonadal dysgenesis. patients with testicular feminization will always have normal testes, which are situated either in the ovarian fossa or in the inguinal canal. patients with gonadal dysgenesis always have streak gonads. The risk of developing a malignancy in an abnormally located testis is very low, certainly before puberty, whereas the risk for dysgenetic gonads to develop a malignancy is high. Testes in patients with testicular feminization have an important endocrine function in puberty, whereas in gonadal dysgenesis patients they do not. For these reasons, in patients with testicular feminization, one should not remove the testes until the completion of puberty, whereas in patients with gonadal dysgenesis removal should be performed immediately upon recognition of the disorder.
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ranking = 8
keywords = feminization
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3/5. Estrogen and androgen production rates in two brothers with Reifenstein syndrome.

    Defects of the androgen receptor in 46,XY individuals cause aberrant virilization that varies from a female phenotype to men with minor defects. More severely affected individuals also develop gynecomastia associated with enhanced estradiol secretion by the testis. However, the degree of breast development does not correlate with the rate of estrogen production, leading us to propose that feminization is a function of the degree of androgen resistance as well as the rate of estrogen formation. To test this hypothesis we measured estrogen and androgen formation in two brothers with perineoscrotal hypospadias and severe gynecomastia (the Reifenstein phenotype) due to a mutation that impairs androgen receptor function. Rates of estradiol production (60 and 70 micrograms/day) were elevated, but were not as high as in previously studied men with a similar phenotype. We conclude that the variable degree of feminization in this disorder cannot be explained by androgen resistance alone.
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ranking = 2
keywords = feminization
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4/5. female external genitalia and mullerian duct derivatives in a 46,XY infant with the smith-lemli-opitz syndrome.

    We report on a 46,XY newborn infant with Smith-Lemli-Opitz (SLO) syndrome with female external genitalia, intraabdominal testes with epididymides and deferent ducts and a normally shaped uterus and vagina. polydactyly, cleft palate, and several internal organ malformations were also present, and the patient died shortly after birth. Data on six reported male infants with SLO syndrome and female external genitalia suggest a correlation between degree of genital involvement and overall degree of severity. Scoring systems to quantify overall degree of severity (SLO score) and degree of genital involvement in males (genital score) were devised and applied to 122 reported cases from the literature. Statistical analyses showed a unimodal distribution of the SLO severity scores, and positive correlations between the SLO score and the genital score in males, the presence of polydactyly, and the presence of cleft palate. In 19 multiplex families the affected sibs were generally similar in their SLO scores. The above analyses suggest that the wide phenotypic variability in the SLO syndrome is determined by variable expressivity of the same entity as opposed to genetic heterogeneity. The observed phenotypic correlations naturally determine that males with complete feminization are among the more severe patients and tend to have polydactyly and cleft palate.
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keywords = feminization
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5/5. female inguinal hernias and testicular feminization.

    Surgeons and clinicians should be aware of testicular feminization and its implications in performing inguinal hernia repairs on female patients of any age. Removal of the gonads is probably indicated only after pubertal growth is complete. Other intersex conditions usually require prepubertal gonadectomy, but in these patients diagnosis is often made before any planned hernia repair. Incisional biopsy of abnormal gonads is important, but the diagnosis of testicular feminization must be confirmed by appropriate laboratory tests. Corticosteroids should be given to cover the immediate postoperative period so that patients with biochemical defects will not have hypoadrenalism.
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ranking = 6
keywords = feminization
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