جستجوی مقالات مرتبط با کلیدواژه « gonadal dysgenesis » در نشریات گروه « پزشکی »

Disorders of sex development (DSD) result from intrauterine defects in sex discrimination. The clinical phenotype differs based on the disease type. Cases with ambiguous external genitalia are diagnosed at birth. However, diagnosis of cases with normal-appearing external genitalia may be delayed until puberty. Here, we report a patient with a pelvic mass and a small uterus that was diagnosed by abdominal ultrasound, in addition to the history of primary amenorrhea and physical examination suggested Swyer syndrome, confirmed by genetic karyotyping. Pathological examination of the surgically removed mass revealed dysgerminoma. Until the age of 19, the patient did not have any idea about 46, XY karyotype, and assumed to be a female. The development of dysgerminoma (as a result of the simultaneous presence of gonadal dysgenesis and Y-chromosome) was another challenge that the patient had to deal with. The diagnosis of this patient at an earlier age could have prevented the development of gonadoblastoma, by removal of the streak gonads. By the presentation of this case, we intend to increase the physician’s awareness about DSDs; earlier diagnosis may help the patient deal with her disease better and reduce the risk of further complications.

Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still quite infrequent. To the extent that authors searched, just one study reported the association between Rokitansky sequence and Dandy-Walker malformation. 

We aimed to report a case with gonadal dysgenesis, MRKH, and the Dandy-Walker variant. In this care report, the authors reported a 15-year-old girl with primary amenorrhea and underdeveloped secondary sexual properties. Her karyotype was 46, XX. The abdominopelvic MRI without contrast demonstrated bilateral ovarian agenesis and no uterus or cervix. Vagina was normal in length. Brain MRI was consistent with the Dandy-Walker variant. 

Although some affected chromosomal regions have been identified, further genetic analyses should be performed to elucidate the probable association between these anomalies.

Inhibin and activin regulate the follicle stimulating hormone level by their antagonistic actions and thus have been considered as strong candidate genes in the etiology of ovarian dysgenesis. In the present study, two cases of primary amenorrhea with poorly developed secondary sexual characteristics were reported. The purpose of the study was to identify mutations in candidate gene.

In this paper, clinical, genetic, biochemical, and molecular findings in female patients with primary amenorrhea were reported. Whole blood culture and G-banding for karyotyping, sequencing, and in silico analysis were performed following the standard protocol. Both cases were cytogenetically characterized as normal females with 46,XX, chromosome constitution. Hormonal assay revealed high level of follicle stimulating hormone and luteinizing hormone. DNA sequence analysis of inhibin identified two novel heterozygous missense mutations of c.975T>A and c.1156G>A which were translated into p.I310N and p.D386N, respectively. These identified positions were highly conserved across species during evolution. In silico prediction tools, intramolecular hydrogen bonding pattern and hydrophobicity analysis, revealed deleterious effect of p.I310N and neutral effect of p.D386N mutation.

Our observation suggested that identified novel mutation in the first case might be the reason for ovarian dysgenesis and provides additional support to the previously reported genotype-phenotype correlations.

Frasier syndrome is a rare genetic disorder characterized by the association of progressive renal glomerulopathy and 46,XY complete gonadal dysgenesis with a high risk of developing gonadoblastoma. Mutations in the Wilms' tumor suppressor gene (WT1) located in 11p23 are responsible for this syndrome. Patients with this syndrome commonly present with normal female genitalia, streak gonads, and a 46, XY karyotype. Nephropathy in Frasier syndrome is in the form of nephrotic syndrome (NS) with proteinuria that begins early in childhood and progressively increases with age, mainly due to nonspecific focal segmental glomerular sclerosis (FSGS). We herein present a 4-year-old girl who presented with steroid-resistant nephrotic syndrome and was later diagnosed with Frasier syndrome.

Testicular regression syndrome (TRS) is defined as the partial or total absence of testicular tissue in 46XY patients with normal external genitalia. The incidence of TRS has been reported to be less than 5% in patients with cryptorchidism. Herein, we report a case of a one-year old boy who underwent surgical exploration with an initial diagnosis of cryptorchidism.

a one-year old male came to the outpatient clinic at Al Emadi Hospital, Doha, Qatar. Physical examination revealed normal external genitalia with palpable right testis and non-palpable left testis. The initial diagnosis was cryptorchidism. Testicular structure was not identified and a presumed testicular remnant in the left superficial inguinal ring was sent for histological examination. The histological examination revealed a fibrovascular nodule, spermatic cord structures, calcification and hemosiderin deposits supporting the diagnosis of TRS.

When patient fulfills clinical and pathological criteria for TRS, we should consider the possibility of orchiopexy and testicular prosthesis implantation to decrease the risk of testicular torsion and negative psychological effects.

Turner Syndrome (TS) is caused by the complete or partial absence/abnormality of the second X chromosome in some or all cells.The purpose of this study was to assess the correlation between clinical presentation and karyotype variations of X chromosome in TS.

In a retrospective case-series using medical records (2001-17) for our pediatric-endocrinology TS patients, additional data were collected using a questionnaire and detailed physical examination, including demographics, initial presentation, clinical characteristics at diagnosis, height, puberty stage, cardiovascular and renal malformations, uterus and ovary status, and hormonal profile. Three patient-groups of monosomy X (45,X) cases, 45,X/46,XX or 45,X/46,XY mosaicism cases, and cases with other aberrations of X chromosome were compared in this study.

In 57 TS patients (Age range 6 months to 25 years (Mean 11.85±5.1 yrs.)), 3.5% were diagnosed in infancy because of lymphedema and congenital heart disease. Short stature was the initial presentation in 78.9%. On presentation, 94.7% were short. Other referrals included cases with primary amenorrhea (12%), delayed puberty (5.3%), leg edema (1.8%) and congenital heart disease (1.8%). Mean height standard deviation score was 3.7±1.8 SD below mean for age and sex. Overall, 50.9% of cases had all clinical features consistent with TS and 21.1% had no symptoms of TS other than short stature. Of 39 patients in pubertal age, 31.6% had degrees of breast maturity. Most of them had X structural abnormalities (40.3%). However, 33.3% had classic TS. Still, 5.3% had Y-chromosome material. Among three karyotype groups, clinical symptoms and phenotypes were not significantly different.

The study found no correlation between the clinical presentation and karyotype variations of TS.

46, XX gonadal dysgenesis without the phenotype of Turner's syndrome is described as "pure". Although, previous investigations obtained that commonly gonadal dysgenesis did not cause breast development as a result of low levels of circulating estradiol. However, in this study, we aimed to report a familial pure gonadal dysgenesis with and without normal secondary sexual characteristics. In this study, we reported three siblings with pure gonadal dysgenesis with and without normal secondary sexual characteristics. The elder two sisters had a normal female phenotype and the youngest had amenorrhea with no breast development (B1) and pubic hair. In addition, it seems that the absence of pubic hair occurred due to delayed constitutional puberty. According to results, it seems that clinicians should consider different presentations for pure gonadal dysgenesis with familial pattern.