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1/19. Laparoscopic gonadectomy in a patient with testicular feminization syndrome.

    A laparoscopic technique is reported as an operative approach for gonadectomy in a case of testicular feminization syndrome. A 17-year-old phenotypic female presented with primary amenorrhea and was evaluated through a diagnostic protocol that included clinical, cytogenetic, and hormonal examinations. The findings supported the diagnosis of testicular feminization syndrome. The left gonad was found at the internal opening of the inguinal canal and removed laparoscopically. No gonad was found at the contralateral side. No complications occurred during the operation and the patient left the hospital the same day. A long-term hormonal replacement treatment was initiated postoperatively.
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2/19. Familial incomplete virilization due to partial end organ insensitivity to androgens.

    A 16-yr-old 46 XY individual with a familial incomplete male pseudohermaphroditism closely resembling the syndrome described by Gilbert-Dreyfus et al. was studied. The patient's habitus was masculine despite the presence of a small phallus, pseudo-vaginal perineal hypospadias, bifid scrotum, gynecomastia, and diminished virilization. blood samples obtained at 20-min intervals were submitted to hormone analysis. Episodic fluctuations of plasma gonadotropins with mean values of LH above the normal male range and FSH within normal limits were observed. Moderately elevated plasma testosterone and increased plasma estradiol also showed episodic oscillations. The administration of LH-releasing hormone resulted in a significative increase of plasma LH and FSH. Testicular biopsy revealed the presence of seminiferous tubules with few spermatogonia and no spermatocytes, and normal sertoli and interstitial cells. Gonadal stimulation with hCG for 4 consecutive days induced a significative increase of plasma testosterone and estradiol. The daily administration of 50 mg of testosterone propionate for 3 days neither depressed the circulating levels of gonadotropins nor modified the pulsatile pattern of gonadotropins release. Administration of testosterone and 5alpha-dihydrotestosterone propionate failed to diminish plasma LH and FSH levels. Testosterone administration for 10 weeks also failed to induce virilization. These results are similar to those observed in patients with testicular feminization syndrome, and the underlying abnormality involves a partial defect of the mechanism of action of testosterone rather than decreased androgen biosynthesis. According to a recently proposed classification this individual corresponds to the type 1 incomplete male pseudohermaphroditism.
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ranking = 0.16666666666667
keywords = feminization
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3/19. Graham Little-Piccardi-Lassueur syndrome associated with androgen insensitivity syndrome (testicular feminization).

    Graham Little-Piccardi-Lassueur syndrome is characterized by the presence of cicatricial alopecia on the scalp, keratosis pilaris in the skin of trunk and extremities, and non-cicatricial hair loss in pubis and axillae. A frequent form of male pseudohermaphroditism is complete androgen insensitivity syndrome (CAIS), also known as testicular feminization syndrome. It refers to genetic males with XY karyotype who, owing to a lack of sensitivity in the peripheral androgenic receptors, develop a female phenotype. Axillary and pubic hair is typically scarce or absent. To our knowledge, this is the first case describing the association of the two processes. The presence of both processes in the same patient furthers our understanding of Graham Little-Piccardi-Lassueur syndrome as it rejects the influence of androgens in the alopecias accompanying this syndrome. The coincidence of non-cicatricial alopecia in axillary and pubic hair in both processes is also remarkable.
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keywords = feminization
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4/19. Mayer-Rokitansky-Kuster-Hauser syndrome associated with endodermal sinus tumor of the ovary.

    Both EST and Mayer-Rokitansky-Kuster-Hauser syndrome are uncommon disorders. This report illustrates a case of these two rare conditions occurring in the same patient. patients with Mayer-Rokitansky-Kuster-Hauser syndrome, although not appearing to be at increased risk for germ cell tumors, unlike testicular feminization patients, are not immune to ovarian cancer. Therefore, individuals with Mayer-Rokitansky-Kuster-Hauser syndrome should still be followed gynecologically because they are at least at the normal risk of developing ovarian as well as other gynecological neoplasms.
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keywords = feminization
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5/19. Male pseudohermaphroditism due to Leydig cell agenesia and absence of testicular LH receptors.

    OBJECTIVE: The aim of our study was to establish the definitive diagnosis in an adult patient with male pseudohermaphroditism in whom testicular feminization syndrome had been suspected at the age of 8, based on genetic, clinical and pathological studies. DESIGN: Hypothalamo-hypophysio-testicular function was assessed in vivo. Androgen mechanism of action and testicular gonadotrophin binding were studied in vitro. PATIENT: At the age of 33 the phenotype was almost completely feminine except for slight clitoral enlargement and posterior labial fusion. Internal genital duct derivatives were masculine except for a short vagina. Both testes were cryptorchid. MEASUREMENTS: LH and FSH were determined pre- and post-gonadectomy. progesterone, 17-OH-progesterone, androstenedione, dehydroepiandrosterone testosterone (T) and oestradiol were determined basally in peripheral and spermatic blood post-hCG stimulation, and in peripheral blood after orchidectomy. dihydrotestosterone (DHT) receptors and 5 alpha-reductase activity were determined in genital skin fibroblasts. Receptors for LH and FSH were determined in membrane preparations from both testes. RESULTS: LH was high (31 IU/l) and FSH (8 IU/ml) normal. T or steroid precursors were detected basally or after hCG stimulation in peripheral blood showing absence of testicular production. Spermatic venous blood steroid concentrations were consistent with slight T production, in accordance with testis histology which showed few Leydig-like cells among fibroblasts in the interstitial space. DHT specific binding capacity and affinity and 5 alpha-reductase activity were normal in genital skin fibroblasts. Gonadotrophin binding studies in testicular membranes confirmed the absence of LH specific binding, whereas FSH binding was higher than normal when expressed per mg of protein (27.0 vs 9.4 /- 0.6 fmol/mg protein in controls), and lower than normal in both testes since patient's testicular weights were abnormally low. CONCLUSIONS: The patient was considered to have an almost complete form of Leydig cell agenesia/hypoplasia in which absence of specific LH binding correlated with total absence of differentiated leydig cells and insensitivity of undifferentiated interstitial cells to LH stimulation.
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ranking = 0.16666666666667
keywords = feminization
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6/19. 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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keywords = feminization
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7/19. Immune complex disease and gynecomastia.

    A man with arthritis, gynecomastia and a rash histologically showing leukocytoclastic vasculitis, dermatitis herpetiformis and immunoglobulin g deposits at the dermoepidermal junction is reported. In contrast to cases of systemic lupus erythematosus (SLE) associated with vesiculobullous eruptions and similar histological features, our patient had neither bullae nor serological evidence of SLE. Conversely, no men already reported had evidence of feminization. Thus, our case appears to be unique.
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ranking = 0.16666666666667
keywords = feminization
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8/19. Clinical and endocrinological characterization of two subjects with Reifenstein syndrome associated with qualitative abnormalities of the androgen receptor.

    The androgen receptor in fibroblasts cultured from a biopsy of scrotal skin from 1 subject with Reifenstein syndrome has been found to be normal in amount and to bind dihydrotestosterone with normal affinity but to be qualitatively abnormal as evident by thermolability and instability upon ultracentrifugation. The family study of this subject and endocrine studies document androgen resistance in the index patient and his affected uncle. These findings provide evidence for X-linkage of this disorder, and suggest that the mutations that give rise to this phenotype are probably allelic to the mutations of the androgen receptor that cause testicular feminization.
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ranking = 0.16666666666667
keywords = feminization
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9/19. 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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ranking = 0.16666666666667
keywords = feminization
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10/19. Testicular feminization syndrome: a report of three Ethiopian patients and a brief review.

    The clinical features of 3 Ethiopian patients presenting with the complete syndrome of testicular feminization are described. All 3 were seen because of primary amenorrhoea. At laparotomy, one patient had testes located intra-abdominally, a second lodged in the inguinal canals and a third as masses in the labia majora. Also, one of these patients had bilateral inguinal herniae, a usual feature of this syndrome. Since the incidence of malignancy is high among individuals with undescended testes, they were removed in 2 patients. In the third patient, however, the testes were not removed because of delay in development of secondary sex characteristics. The literature on testicular feminization is also briefly reviewed.
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