1/17. Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome.OBJECTIVE: To describe a patient with bilateral ovarian agenesis associated with the atypical form of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. DESIGN: Case report. SETTING: Unit of endocrinology, Fundacion Hospital Alcorcon. Madrid (spain). PATIENT: A 17-year-old woman who presented with primary amenorrhea and lack of mammary development. INTERVENTION(S): An endocrine study including pituitary, ovarian, adrenal, and thyroid evaluation was performed. Genetic study was done by karyotype and fluorescence in situ hybridization (FISH) analysis to detect the presence of y chromosome material. Bone study, intravenous urography, pelvic ultrasound, and laparoscopic study were ordered to evaluate the associated genitourinary and skeletal anomalies. MAIN OUTCOME MEASURE(S): Anatomic, endocrine, and genetic description of the patient. RESULT(S): The gynecologic examination showed a normal vagina ending in a blind pouch. The endocrine evaluation disclosed gonadotropin levels in the menopausal range and nonautoimmune subclinical primary hypothyroidism. The laparoscopic study revealed a single pelvic kidney and an absence of gonads, fallopian tubes, and uterus. The karyotype was 46,XX; no y chromosome was found in FISH analysis. CONCLUSION(S): To our knowledge, this is the first report of gonadal agenesis 46,XX associated with the atypical form of MRKH syndrome. The primary hypothyroidism may be coincidental.- - - - - - - - - - ranking = 1keywords = endocrine (Clic here for more details about this article) |
2/17. Anorchia and persistent Mullerian duct: a variant of the embryonic testicular regression syndrome.A 20-yr-old phenotypical male with a 46, XY chromosome complement, a hernia uteri inguinale, and bilateral anorchia was studied. Eunochoidal body proportions, infantile type of male external genitalia with empty scrotum, underdeveloped sexual characteristics, and delayed bone age suggested the existence of inadequate testicular function. Extremely low levels of circulating testosterone and a lack of response to hCG stimulation was found. Persistently elevated blood levels of LH and FSH with an adequate pituitary response to an iv bolus of synthetic LRH was demonstrated, thus indicating inadequate endocrine gonadal function as well as functional integrity of the hypothalamic-pituitary unit. At the time of an inguinal hernioplasty, a small but well developed uterus was removed. No gonads were found within the true pelvis, inguinal canals, or along the anatomical pathways of testicular descent. A cord-like structure found in the left inguinal canal contained only fibrous tissue without gonadal elements. It is proposed that the occurrence of two altered events during embryogenesis, failure of Mullerian duct regression and late testicular regression, may explain the underlying defect in this unusual abnormality of sexual differentiation.- - - - - - - - - - ranking = 0.3335368470019keywords = endocrine, bone (Clic here for more details about this article) |
3/17. 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.- - - - - - - - - - ranking = 0.33333333333333keywords = endocrine (Clic here for more details about this article) |
4/17. A case of mixed gonadal dysgenesis (MGD)--with a review of MGD patients reported in japan.A 17-year-old patient with mixed gonadal dysgenesis (MGD) showing ambiguous genitalia and hypergonadotropic hypogonadism was described. By intraabdominal exploration, a poorly developed uterus with a fallopian tube and a streak gonad was found on the right side and a poorly developed testis with epidydimis and vas deferens on the left. Chromosomal analysis on cultured peripheral lymphocytes and bone marrow cells showed 45,X karyotype, while among the majority of 45,X cells small numbers of 46,X mar cells (3-23%) were found in cultured fibroblasts from the abdominal skin and various organ tissues. We compared our patient with the Japanese patients with MGD reported in the literatures.- - - - - - - - - - ranking = 0.00020351366857141keywords = bone (Clic here for more details about this article) |
5/17. Studies on gonadal dysgenesis: variable expressivity of the XY testicular dysgenesis syndrome; two case reports.Two adult unrelated XY phenotypically female individuals with sexual infantilism and genital ambiguity were studied. mosaicism was ruled out by the assessment of a normal 46,XY karyotype in four different cell lines. Persistently elevated LH and FSH serum levels with concomitant normal pituitary Gn-RH responsiveness were found. Baseline serum testosterone concentrations were low, but they exhibited a slight though significant rise following HCG stimulation. Surgical and histological findings included the presence of Mullerian and Wolffian derivatives and small bilateral dysgenetic testes with absence of germ cell epithelium, scarce sertoli cells, and hyperplastic leydig cells. The overall data indicated an anatomo-functional testicular impairment particularly confined to the tubular compartment. By comparing the clinical and endocrine features of this incomplete form of the XY testicular dysgenesis with the complete and other unusual forms, further evidence is provided of a wide heterogeneity of the syndrome, and a more detailed classification is proposed.- - - - - - - - - - ranking = 0.33333333333333keywords = endocrine (Clic here for more details about this article) |
6/17. Inherited impairment of nuclear androgen uptake as a cause of familial androgen insensitivity.The endocrine and biochemical characteristics of four related 46,XY pseudohermaphrodite patients with the Reifenstein syndrome are presented. All of them (6 and 9 years old, first generation, and 9 and 12 months old, second generation) exhibited ambiguity of external genitalia and a family pedigree characteristic of an X-linked pattern of inheritance. serum basal levels of LH, FSH, testosterone (T), androstenedione and 5 alpha-dihydrotestosterone (DHT) were within normal limits. Administration of hCG induced a normal response in terms of serum T in three of the patients, with a concomitant increase in serum DHT. However, an abnormally elevated T: DHT ratio was found in two of these subjects on the day of maximal T response (T: DHT ratio, 24 and 27; normal range, 4-21). Genital skin-derived fibroblasts from all patients were studied for [3H]DHT uptake in a whole-cell monolayer assay. Three of the mutant strains exhibited values of [3H]DHT uptake at 37 degrees C within the lower limits of normality (39.4-47.05 fmol/mg protein/h; normal strains, 36-101 fmol/mg protein/h), whereas fibroblasts from the remaining patient presented a slightly decreased uptake (31.66 fmol/mg protein); when studied at 42 degrees C, all mutant strains behaved as the normal controls. The existence of a specific 4.6 S cytosol androgen receptor was clearly seen in the two mutant strains when analysed by sucrose gradient centrifugation. Nevertheless, in one of the mutant strains, a significantly low maximal nuclear [3H]DHT uptake was detected (173.6 fmol/mg dna; control strain, 301.6 fmol/mg dna). The overall data were interpreted as demonstrating the existence of an impaired uptake of the androgen-receptor complex at the nuclear levels as the cause of the incomplete phenotypic expression of androgen action in this family. In this setting, the presence of low peripheral 5 alpha-reductase activity may be considered as a secondary manifestation of the androgen insensitivity.- - - - - - - - - - ranking = 0.33333333333333keywords = endocrine (Clic here for more details about this article) |
7/17. In-vivo and in-vitro endocrine investigation of pure gonadal dysgenesis.diagnosis of XY pure gonadal dysgenesis was established in a patient of female phenotype, with female internal genitalia, but with a chromosomal constitution of 46 XY. Streak gonads had undergone neoplastic transformation--gonadoblastoma and dysgerminoma. Before operation the concentrations of gonadotrophins in plasma were high and of oestradiol was low. Administration of oestradiol benzoate initially suppressed and then stimulated an increase in the plasma concentration of LH. These changes were not accompanied by changes in blood levels of endogenous sex steroids. A single injection of hCG failed to stimulate steroid secretion. The activities in vitro of steroid-metabolizing enzymes in the dysgenetic gonadal tissue more closely resembled those of ovarian tissue from a premenopausal and from a postmenopausal women than those in testes from two androgen-insensitive patients. However, aromatase activity was higher in the dysgenetic gonads than in the pre or post-menopausal ovaries. Examination of enzymes in genital skin fibroblasts demonstrated normal activities of 3 alpha/beta-beta-hydroxysteroid dehydrogenase and 17 beta-hydroxysteroid dehydrogenase (oxidative and reductive directions). However, 5 alpha-reductase activity was low in minces and fibroblasts of genital skin from the patient. Androgen binding was within the range for male controls.- - - - - - - - - - ranking = 1.3333333333333keywords = endocrine (Clic here for more details about this article) |
8/17. Unusual cause of short stature.A 24-year-old man evaluated for paresthesias and short stature was found to be hypocalcemic on initial presentation. Further evaluation showed that he had a low-normal parathormone level by amino-terminal assay, medullary stenosis of the long bones, and multiple ophthalmologic abnormalities. The remainder of his pituitary function, including growth hormone response to insulin-induced hypoglycemia, was normal. As no family history of similar findings was evident, a sporadic case of Kenny's or Kenny-Caffey syndrome was diagnosed. He became normocalcemic in response to vitamin d and calcium carbonate therapy. The results of testing in this patient and the findings in other patients previously described with the Kenny-Caffey syndrome are reviewed.- - - - - - - - - - ranking = 0.00020351366857141keywords = bone (Clic here for more details about this article) |
9/17. h-y antigen in Swyer syndrome and the genetics of XY gonadal dysgenesis.The h-y antigen is a plasma membrane antigen involved in the organogenesis of the mammalian testis. Its expression on human cells is determined by a Y-linked gene. Phenotypic females affected by 46,XY gonadal dysgenesis (Swyer's syndrome) can be either H-Y-positive or H-Y-negative. In this paper we report h-y antigen and endocrine studies in a sibship with three affected sisters. Immunological studies were performed on two of the patients, and a clearly positive expression was detected in both cases. Endocrine studies consisted in the investigation of the hypothalamic-pituitary-gonadal axis, which revealed that gonadal hormone insufficiency is the only endocrine abnormality associated with the syndrome. A new genetic interpretation and calssification of XY gonadal dysgenesis is proposed.- - - - - - - - - - ranking = 0.66666666666667keywords = endocrine (Clic here for more details about this article) |
10/17. gonadal dysgenesis and somatic stigmata in patients with 45,X/46,Xr(X) ring chromosome.Two cases of gonadal dysgenesis and stigmata of Turner's syndrome with ring chromosome X are described. Their features support the idea that ring chromosome X should be considered as a deletion in the genetic sense, affecting both the gonadal and statural determinants. Without knowing the cytogenetic findings, these patients are usually labeled as having Turner's syndrome. Furthermore, endocrine data and histologic examination of the gonads are indistinguishable from those of individuals with 45,X or 46XX gonadal dysgenesis.- - - - - - - - - - ranking = 0.33333333333333keywords = endocrine (Clic here for more details about this article) |
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