scholarly journals Pure gonadal dysgenesis misdiagnosed as Mayer Rokitansky Kuster Hauser Syndrome: a case report

2020 ◽  
Vol 9 (11) ◽  
pp. 4756
Author(s):  
Preeti B. Singh ◽  
Roli Purwar ◽  
Pawan Kumar
Keyword(s):  
Case Report ◽  
Bone Loss ◽  
Gonadal Dysgenesis ◽  
Karyotype Analysis ◽  
Rare Presentation ◽  
Primary Amenorrhoea ◽  
Prevent Bone Loss ◽  
Hormone Profile ◽  
Phenotypic Female

Gonadal dysgenesis is a group of heterogeneous disorders with very rare presentation. The spectrum of disease not only includes primary amenorrhoea but also secondary amenorrhoea. Herein, we are reporting a case of 16-year-old phenotypic female who presented with amenorrhoea with 46, XX karyotype with hypoplastic uterus with absent ovaries (on imaging), with high gonadotropins level and low estradiol. Suspecting Mayer–Rokitansky–Küster–Hauser syndrome (due to hypoplastic uterus) with gonadal dysgenesis she was started on cyclic hormones for development of secondary sexual characters and to prevent bone loss. But, during follow up, after giving estrogen for 8 months, her hypoplastic uterus again starts reappearing with attainment of cyclic menses on estrogen and progesterone withdrawal. We concluded that, in the presence of rudimentary or hypoplastic uterus, straightforward diagnosis of MRKH is to be avoided without seeing peripheral estrogenisation, hormone profile and karyotype analysis.  

scholarly journals Rare presentation of a testicular angiofibroma treated with testis sparing surgery

2016 ◽  
Vol 88 (4) ◽  
pp. 330 ◽  
Author(s):  
Luca Leone ◽  
Paola Fulvi ◽  
Giulia Sbrollini ◽  
Alessandra Filosa ◽  
Enrico Caraceni ◽  
...  
Keyword(s):  
Case Report ◽  
Malignant Tumor ◽  
Gold Standard ◽  
Conservative Surgery ◽  
Pathological Examination ◽  
Benign Tumors ◽  
Frozen Sections ◽  
Rare Presentation ◽  
Final Histology

Introduction: Testicular benign tumors are very rare (< 5%). Testicular Angiofibroma (AF) is one of those, however the gold standard of treatment and follow-up is still unclear. Case report: A 47 years-old man with only one functioning testis was referred to our clinic for a palpable right testicular mass and atrophic contralateral testis. Patient underwent testis-sparing surgery with inguinal approach and intraoperative frozen sections examination with diagnosis of AF. Final histology confirmed AF. Post-operative follow-up was uneventful. Clinical and ultrasonographic follow-up was negative after 8 months. Conclusion: We report a conservative surgery in a patient with AF of the solitary testis. AF is a benign para-testicular fibrous neoplasm that could be misinterpreted as malignant tumor and treated with orchiectomy. Testis-sparing surgery is recommended in this case with intraoperative pathological examination. The excision of the mass is enough but in front of a possible recurrence a long follow-up is advisable.

scholarly journals Prevention of pathological fracture in fibrous dysplasia of proximal femur in a 24-year-old female a rare presentation - a case report

2021 ◽  
Vol 7 (6) ◽  
pp. 1238
Author(s):  
Amit Supe ◽  
Jayesh Mhatre ◽  
Nihar Modi
Keyword(s):  
Case Report ◽  
Fibrous Dysplasia ◽  
Pathological Fracture ◽  
Medical Literature ◽  
Favourable Outcome ◽  
Endocrine Dysfunction ◽  
Rare Presentation ◽  
Café Au Lait Spots ◽  
Hip Screw

<p class="abstract">Fibrous dysplasia (FD) was historically mentioned in the medical literature in 1938 by Dr. Lichtenstein and in 1942 by Dr. Lichtenstein and Jaffe. The term Jaffe-Lichtenstein syndrome is sometimes used synonymously with monostotic FD or to denote cases of polyostotic FD with café au lait spots, but no endocrine dysfunction. Our case is a 24-year-old female, housewife presented to our hospital with a complaints of right hip pain and backache with difficulty in walking of 6 months duration. She had dull aching pain which increased in intensity with the course of time, there was no radiation, but was aggravated by movements. She was managed with dynamic hip screw along with curettage of the lesion and bone graft, after 9 months of follow up, she had no pain over her hip and there was calcification over the previous lesion, our patient had a very favourable outcome.</p>

46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma

2020 ◽  
Vol 13 (7) ◽  
pp. e235501
Author(s):  
Sarah Alam ◽  
Hiya Boro ◽  
Alpesh Goyal ◽  
Rajesh Khadgawat
Keyword(s):  
Germ Cell ◽  
Gonadal Dysgenesis ◽  
Germ Cell Tumour ◽  
Rare Condition ◽  
Cell Tumour ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Rare Presentation ◽  
Phenotypic Female ◽  
Complete Gonadal Dysgenesis

Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. On evaluation, she was found to have male-range serum testosterone, large abdominopelvic mass lesion, elevated germ cell tumour markers and 46, XY karyotype. She underwent surgical excision of left gonadal mass and right streak gonad, histopathology of which revealed dysgerminoma and gonadoblastoma, respectively. A diagnosis of virilising germ cell tumour arising in the setting of 46, XY CGD was, therefore, made. This case highlights a rare presentation of 46, XY CGD and the need to consider early prophylactic gonadectomy in patients affected with this rare condition. The presence of dysgerminoma/gonadoblastoma should be suspected if a hitherto phenotypic female with CGD undergoes virilisation.

Oral bisphosphonates fail to prevent bone loss from androgen deprivation therapy in men with prostate cancer

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 14643-14643 ◽  
Author(s):  
R. Y. Lam ◽  
M. Scholz ◽  
B. Guess ◽  
T. Trilling
Keyword(s):  
Prostate Cancer ◽  
Bone Density ◽  
Bone Loss ◽  
Androgen Deprivation Therapy ◽  
Androgen Deprivation ◽  
Phase Iii ◽  
Oral Bisphosphonates ◽  
Prevent Bone Loss ◽  
Bone Mineral Densitometry

14643 Background: Androgen deprivation therapy (ADT) is a widely administered treatment for prostate cancer. However, ADT is associated with accelerated bone loss, osteoporosis, and fractures (Shahinian, NEJM 2005; 352:154). According to Smith et al, annual bone loss on ADT approaches 9% (Smith, NEJM 2001;345:948), using QCT densitometry, a highly sensitive test for the detection of osteoporosis in men. Intravenous bisphosphonates (pamidronate, zolendronate) have been shown to prevent ADT-related bone loss in randomized phase III trials. We performed a retrospective analysis to determine if oral bisphosphonates effectively prevent bone loss in men receiving ADT. Methods: Twenty two men, ages 60–80, were placed on alendronate or risendronate at the initiation of ADT. Baseline and follow-up bone mineral densitometry (BMD) studies were performed with QCT densitometry. Repeat BMD was performed 12- 27 months (mean = 17mo) after the baseline BMD. Percentage change in bone density was annualized. Within each treatment group, the hypothesis of no mean change from baseline was analyzed using a paired t test. Results: Mean baseline bone density was 122.6mg/cc. Mean follow-up bone density was 112.7mg/cc. For the whole group, the annualized mean change in BMD was negative 7.77%/yr (p = 0.0003). Of note, 9/22 men maintained or gained bone density (-1.26% to +5.95%). 13/22 men lost at least 6.03% (-6.03% to -23.2%). There was no unexpected toxicity or fractures. Conclusions: In this retrospective study, prophylactic oral bisphosphonates do not protect against accelerated ADT-induced bone loss in men with prostate cancer. No significant financial relationships to disclose.

45,X/46,XY Mosaicism with Male Phenotype: Case Report

2021 ◽  
pp. 1-4
Author(s):  
Angie Carolina Carreño-Martínez ◽  
Victor Clemente Mendoza Rojas ◽  
Julian Arturo Gil Forero ◽  
Victor Hugo Figueroa ◽  
Gustavo Adolfo Contreras-García
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Aortic Coarctation ◽  
Gonadal Dysgenesis ◽  
Ambiguous Genitalia ◽  
Normal Male ◽  
Corrective Surgery ◽  
Male Phenotype ◽  
Treatment Alternatives

Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male phenotype, ambiguous genitalia, or features of Turner syndrome. A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation. During the physical examination, short stature, webbed neck, and Blashko lines on his back were noted. He had a previous karyotype reported as normal. However, due to an inadequate evolution and a low resolution on the previous test, a higher resolution karyotype was performed, identifying a mosaicism 45,X/46,XY. A multidisciplinary board examined the case, and follow-up with tumor markers was carried out to evaluate the presence of gonadoblastoma, one of the main complications in these patients. Treatment should be transdisciplinary and focused on the particular characteristics of each case. Other treatment alternatives include corrective surgery and hormonal therapy.

The socket-shield technique and early implant placement for tooth rehabilitation: A case report

2021 ◽  
Vol 1 (3) ◽  
Author(s):  
Getúlio Batista de Oliveira ◽  
◽  
Mariana de Almeida Basilio ◽  
Nara Santos Araujo ◽  
Patricia Ramos Cury ◽  
...  
Keyword(s):  
Case Report ◽  
Bone Loss ◽  
Tooth Extraction ◽  
Alveolar Bone ◽  
Non Invasive ◽  
Implant Placement ◽  
Long Time ◽  
Bone Preservation ◽  
The Aesthetic

For a long time, different approaches to minimize the dimensional ridge alteration following tooth extraction have been described even though none of them was capable to avoid alveolar bone loss. The Socket-Shield Technique (SST) seems to be an alternative for alveolar bone preservation in dental extraction planning. This technique conventionally uses a flapless approach and the buccal root portion retention to prevent bone loss. This case report describes the SST with an early implant placement in a patient who presented the nonrestorable tooth # 15 due to the extensive cavity. After six months of the implant placement a porcelain-fused-to-metal crown was fabricated and screwed into the implant with a satisfactory esthetic and functional result. The SST is a non-invasive and effective approach to tooth extraction and rehabilitation, especially in the aesthetic zone. Approximately two-year follow-up shows a satisfactory aesthetic maintenance.

scholarly journals Surgical management of critical femoral bone loss by bone transport over intramedullary nail by monorail system: a case report

2020 ◽  
Vol 6 (6) ◽  
pp. 1309
Author(s):  
Kuldeep Nahar ◽  
Nikita Nahar
Keyword(s):  
Case Report ◽  
Bone Loss ◽  
Intramedullary Nail ◽  
Road Traffic ◽  
Bone Transport ◽  
Significant Loss ◽  
System A ◽  
Vascular Insufficiency ◽  
Locking Nail

<p>Present case report is about a male patient who met with a road traffic accident sustained an open crush, contaminated, injury of lower end femur of right side with significant loss of lower thigh bone (8 cm). He had fracture of inter condylar femur with fracture upper end tibia and lower third tibia with impending vascular insufficiency of leg and foot. Operated after correction of anaemia by debridement, fixation of femur with plate and inter condylar screw. Upper end tibia and Lower half tibia were fixed with separate plates and fasciotomy of leg. After 2 months femoral plate was replaced with intramedullary locking nail and superadded with monorail fixator. Corticotomy at proximal femur for bone transportation. Bone gap was corrected within 4 months and bone grafting was done at distal docking site. Union achieved and fixator removed after 4 months of this. Patient showed good results till last follow up 28 months, having good range of motion of knee.so critical bone loss at femur was treated by distraction osteogenesis over intramedullary nail with monorail external fixator system.</p>

scholarly journals Papular granuloma annulare of palms and soles: case report of a rare presentation.

F1000Research ◽  
2014 ◽  
Vol 3 ◽  
pp. 32 ◽  
Author(s):  
Sidharth Sonthalia ◽  
Rahul Arora ◽  
Rashmi Sarkar ◽  
Uday Khopkar
Keyword(s):  
Case Report ◽  
Male Patient ◽  
Topical Steroid ◽  
Granuloma Annulare ◽  
Common Disease ◽  
Rare Presentation ◽  
Soles Of The Feet ◽  
One Year ◽  
Indian Male

We report the case of a 44-year-old Indian male patient who presented with mildly tender isolated papular lesions confined to the palms of the hands and soles of the feet. The histopathology was characteristic of granuloma annulare. There was an excellent response with 4-week treatment with a potent topical steroid ointment and no recurrence was reported at the follow-up one year later. This report is interesting because of the rare presentation of a common disease.

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