scholarly journals Primary Amenorrhea, Aplastic Uterus, and a Functional Vagina: A Rare Case of Mayer-Rokitansky-Küster-Hauser Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Gregory W. Kirschen ◽  
Natalie Semenyuk
Keyword(s):  
Sexual Function ◽  
Clinical Presentation ◽  
Tanner Stage ◽  
Surgical Reconstruction ◽  
Primary Amenorrhea ◽  
Sexual Encounter ◽  
Heterosexual Woman ◽  
Rare Presentation ◽  
Müllerian Agenesis ◽  
Urogenital Development

Background. Müllerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), a failure of female urogenital development, typically results in a completely stenotic or rudimentary dimple vagina, both of which are generally nonfunctional in adulthood without mechanical dilation or surgical reconstruction. Case. A 20-year-old Tanner stage V heterosexual woman with normal sexual function since coitarche presented with a chief complaint of primary amenorrhea. She was found to have aplastic uterine buds, absent endometrium/cervix, normal ovaries, and an unusually well-developed lower vagina, a rare presentation of MRKHS. We discuss mechanisms by which the anomaly may have arisen. Summary & Conclusion. This case thus expands the clinical presentation of MRKHS to include a normal appearing vagina with intact sexual function from first sexual encounter, raising interesting questions about the basic underlying embryology.

scholarly journals A Case of Swyer Syndrome Associated with Advanced Gonadal Dysgerminoma Involving Long Survival

2015 ◽  
Vol 8 (1) ◽  
pp. 179-184 ◽  
Author(s):  
Salete Da Silva Rios ◽  
Isabella Christina Mazzaro Monteiro ◽  
Larissa Gonçalves Braz dos Santos ◽  
Natasha Garcia Caldas ◽  
Ana Carolina Rios Chen ◽  
...  
Keyword(s):  
Sex Differentiation ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Primary Amenorrhea ◽  
Histopathological Analysis ◽  
Current Case ◽  
Stage 4 ◽  
Ovarian Dysgerminoma ◽  
The University ◽  
Swyer Syndrome

Swyer syndrome is caused by abnormal sex differentiation during the embryonic period, resulting in incomplete intrauterine masculinization and undifferentiated gonads. The current case report describes a patient with Swyer syndrome associated with stage 3 gonadal dysgerminoma who has survived for 23 years. At age 18, this patient sought assistance for primary amenorrhea from the Gynecological Services Department of the University of Brasília Hospital. A physical examination revealed that the patient was at Tanner stage 4 with respect to axillary hair, breasts, and pubic hair; she presented with a eutrophic vagina and a small cervix. She was treated with a combination of estrogens and progestogens to induce cycling. Approximately 4 years later, a complex tumor was found and resected; a histopathological analysis revealed that this tumor was a right adnexal dysgerminoma with peritoneal affection. The patient was also subjected to chemotherapy. Her follow-up has continued to the present time, with no signs of tumor recurrence. In conclusion, this report describes an extremely rare case in which Swyer syndrome was associated with ovarian dysgerminoma; relative to similar patients, the described patient has survived for an unusually prolonged time.

A case of subacute sclerosing panencephalitis presenting as depression

2006 ◽  
Vol 18 (1) ◽  
pp. 55-57 ◽  
Author(s):  
Soumitra Shankar Datta ◽  
Rajesh Jacob ◽  
Sudhir Kumar ◽  
Susan Jeyabalan
Keyword(s):  
Clinical Presentation ◽  
Subacute Sclerosing Panencephalitis ◽  
Diagnostic Delay ◽  
Depressive Syndrome ◽  
Adult Patients ◽  
Rare Presentation ◽  
Affective Symptoms

Summary:Subacute sclerosing panencephalitis (SSPE) is rare in adult patients. Clinical presentation in intial phases of SSPE may be non-specific leading to diagnostic delay. We present a 24-year-old patient with depressive syndrome of five months' duration prior to the onset of typical features of SSPE, which is a rare presentation. This patient had responded partially to Sertraline, for a brief period, before he was diagnosed to have SSPE. This case illustrates affective symptoms can be the presenting features of SSPE in adults.

Necrotising Sweet’s syndrome: a rare presentation of Sweet’s syndrome with unilateral painful swelling of the neck

2021 ◽  
Vol 14 (10) ◽  
pp. e244179
Author(s):  
Andreas Husted ◽  
Sebastian Udholm ◽  
Nichlas Udholm
Keyword(s):  
Neck Dissection ◽  
Intravenous Administration ◽  
Severe Pain ◽  
Clinical Presentation ◽  
Necrotising Fasciitis ◽  
Sweet’S Syndrome ◽  
Rare Presentation ◽  
Sweet's Syndrome ◽  
Radiological Manifestation

This case describes the first documented clinical presentation of Sweet’s syndrome with unilateral swelling of the neck, severe pain and fever. The clinical and radiological manifestation resembled necrotising fasciitis and the patient underwent acute neck dissection. The patient was ultimately diagnosed with a new subtype of Sweet’s syndrome called necrotising Sweet’s syndrome, and quickly recovered after treatment with intravenous administration of prednisolone.

Sweet Syndrome and Pemphigus Vulgaris

2012 ◽  
Vol 16 (2) ◽  
pp. 128-130 ◽  
Author(s):  
Ashley O'toole ◽  
Maureen O'malley
Keyword(s):  
Clinical Presentation ◽  
Pemphigus Vulgaris ◽  
Neutrophilic Dermatosis ◽  
Rare Presentation ◽  
Sweet Syndrome ◽  
Autoimmune Blistering Disease ◽  
Mucous Membranes ◽  
Blistering Disease ◽  
Erythematous Plaques ◽  
New Onset

Background: Pemphigus vulgaris is an autoimmune blistering disease of the skin and mucous membranes. Sweet syndrome is an uncommon reactive neutrophilic dermatosis. Objective: This case report describes the rare presentation of a 58-year-old female patient with newly diagnosed pemphigus vulgaris who later presented with erythematous plaques and leukocytosis highly suggestive of Sweet syndrome. Methods: Review of the literature using the PubMed and Medline databases. Results: The clinical presentation of new-onset Sweet syndrome in a patient with pemphigus has been reported in the literature only on one other occasion. Conclusion: The observation of an association between Sweet syndrome and autoimmune diseases, such as pemphigus vulgaris, may ultimately lead to better understanding of the pathophysiology of this disease.

An Uncommon Cause of Deep Vein Thrombosis: Mycotic Aneurysm Secondary to Salmonella Arteritis

2009 ◽  
Vol 16 (4) ◽  
pp. 255-261 ◽  
Author(s):  
OF Wong ◽  
TSK Lam ◽  
TT Wong ◽  
HT Fung
Keyword(s):  
Deep Vein Thrombosis ◽  
Mycotic Aneurysm ◽  
Clinical Presentation ◽  
Iliac Vein ◽  
Rare Presentation ◽  
Vein Thrombosis ◽  
Accident And Emergency ◽  
Internal Iliac ◽  
Accident And Emergency Department ◽  
Deep Vein

Mycotic aneurysm is an uncommon surgical emergency with high mortality. Endovascular infection due to salmonella is the commonest cause of intra-abdominal mycotic aneurysm. We report a rare presentation of mycotic aneurysm in a 78-year-old man who presented to the accident and emergency department with deep vein thrombosis due to compression of the iliac vein by a mycotic aneurysm arising from the internal iliac artery and an adjacent abscess. A comprehensive review of the aetiology, clinical presentation and management of mycotic aneurysm secondary to salmonella arteritis is presented.

scholarly journals Turner's Syndrome: Approach to Diagnosis and Treatment

2018 ◽  
Vol 13 (3) ◽  
pp. 61-62
Author(s):  
Sadhana Sah ◽  
Ganesh Dangal ◽  
Aruna Karki ◽  
Hema Pradhan ◽  
Ranjana Shrestha ◽  
...  
Keyword(s):  
Short Stature ◽  
Estrogen Therapy ◽  
Tanner Stage ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Secondary Sexual Characteristics ◽  
Karyotypic Abnormality ◽  
Sexual Characteristics

Turner's syndrome is the most common karyotypic abnormality causing gonadal failure and primary amenorrhea. It is characterized by short stature and absence of secondary sexual characteristics. It is diagnosed by increased plasma FSH and LH level with low level of estrogen i.e. hypergonadotrophic hypogonadism. Ultrasound abdomen reveals streak ovaries and atrophic uterus. Karyotype confirms the diagnosis of Turner's syndrome (45XO). We present here a 15 years girl who presented with primary amenorrhea with short stature with breast development corresponds to Tanner stage I. Her FSH was raised. Ultrasound abdomen showed uterine agenesis and streak ovaries. Karyotype showed 45XO which confirmed the diagnosis of Turner's syndrome. She is now on estrogen therapy and her height has increased and breast development corresponds to Tanner stage II. Keywords: hypergonadotrophic hypogonadism, primary amenorrhea, Turner's syndrome

Transverse vaginal septum presenting as secondary amenorrhoea: a rare clinical presentation

2020 ◽  
Vol 13 (8) ◽  
pp. e235374 ◽  
Author(s):  
Garima Yadav ◽  
Neha Agrawal ◽  
Sureka Binit ◽  
Pratibha Singh
Keyword(s):  
Differential Diagnosis ◽  
Abdominal Pain ◽  
Menstrual Cycle ◽  
Clinical Presentation ◽  
Primary Amenorrhea ◽  
Early Age ◽  
Cell Debris ◽  
Vaginal Septum ◽  
Secondary Amenorrhea ◽  
Transverse Vaginal Septum

Transverse vaginal septum is one of the variants of Mullerian duct anomaly, caused as a result of defective fusion or recanalisation of vaginal and Mullerian organs. At an early age, it commonly presents as primary amenorrhea along with cyclical abdominal pain while later on usually it presents as dyspareunia and infertility. Our 22-year-old patient presented with secondary amenorrhea. It is very unusual for a transverse vaginal septum to cause secondary amenorrhea. MRI and clinical examination raised the suspicion of transverse vaginal septum causing secondary amenorrhea. She attained regular menstrual cycle after septum excision. The proposed theory behind it is obliteration of microperforated transverse vaginal septum because of menstrual blood and cell debris. Thus, a rare possibility of transverse vaginal septum should also be considered as a differential diagnosis of secondary amenorrhea.

scholarly journals 46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation ofCYP17A1Gene: Consequences of Late Diagnosis

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Giampaolo Papi ◽  
Rosa Maria Paragliola ◽  
Paola Concolino ◽  
Carlo Di Donato ◽  
Alfredo Pontecorvi ◽  
...  
Keyword(s):  
Ethinyl Estradiol ◽  
Tanner Stage ◽  
Pubic Hair ◽  
Breast Development ◽  
Normal Male ◽  
Primary Amenorrhea ◽  
Homozygous Mutation ◽  
Tall Stature ◽  
Disorder Of Sex Development ◽  
Sex Development

Context.Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease due to specific enzyme deficiencies in the adrenal steroidogenesis pathway.Case Description.A 40-year-old Chinese woman was referred to the Endocrine Unit for the work-up of a syndrome characterized by long-lasting and multidrug resistant high blood pressure, severe hypokalemia with metabolic alkalosis, and primary amenorrhea. The patient presented with sexual infantilism, lack of breast development, absence of axillary and pubic hair, tall stature, and slenderness. CT scan revealed enlarged adrenal glands bilaterally and the absence of the uterus, the ovaries, and the Fallopian tubes. Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of theCYP17A1gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) mutation in exon 6. Hydrocortisone and ethinyl-estradiol supplementation therapy led to incomplete withdrawal of antihypertensive drug and breast development progression to Tanner stage B2 and slight height increase, respectively.Conclusions.We describe a late-discovered case of CAH with 46,XY disorder of sex development. Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed.

Severe Hypercalcemia due to Primary Hyperparathyroidism with MEN 2A

2010 ◽  
Vol 2 (3) ◽  
pp. 131-133
Author(s):  
Geoffrey B Thompson ◽  
Benzon M Dy ◽  
Bianca Vazquez ◽  
Peter J Tebben ◽  
Seema Kumar
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Surgical Management ◽  
Clinical Presentation ◽  
Clinical Manifestations ◽  
Mineral Density ◽  
Normal Range ◽  
Rare Presentation ◽  
Severe Hypercalcemia ◽  
Men 2A

ABSTRACT Introduction Severe hypercalcemia due to primary hyperparathyroidism (PHPT) is rare in the setting of MEN 2A. Materials and methods Two patients with MEN 2A and severe hypercalcemia were identified recently. Their clinical presentation, evaluation, surgical management and outcomes are reviewed. Results Two patients with MEN 2A were identified with severe hypercalcemia secondary to a parathyroid adenoma. Calcium levels were elevated to 12.7 mg/dL and 15.1 mg/dL, respectively (normal range = 8.9-10.1 mg/dL). In each case, a single parathyroid adenoma was identified and surgically excised with normalization of parathyroid and calcium levels postoperatively. Clinical manifestations at the time of diagnosis included constipation, polyuria, hypercalciuria, and decreased bone mineral density. Conclusion Severe elevation of serum calcium is a rare presentation of PHPT in MEN2A. The differential diagnosis should include parathyroid adenoma, hyperplasia and parathyroid carcinoma. Early surgical management is essential in the treatment of hyperparathyroidism with severe hypercalcemia to prevent further complications.

scholarly journals Retroperitoneal Pleomorphic Rhabdomyosarcoma in Adult: A Rare Case Report

2020 ◽  
Vol 4 (2) ◽  
pp. 62
Author(s):  
Budi Martono ◽  
Sri Inggriani
Keyword(s):  
Rare Case ◽  
Clinical Presentation ◽  
Systemic Treatment ◽  
Abdominal Mass ◽  
Common Type ◽  
Common Site ◽  
Rare Presentation ◽  
Rare Case Report ◽  
Case Surgery ◽  
Rare Malignancy

Background: Rhabdomyosarcoma (RMS) is the most common type of soft tissue sarcoma in children, however, RMS is a rare malignancy in adults. Head and neck are the most common site for RMS, while intrabdominal RMS are rare in adults. Case: We present a rare case of a retroperitoneal abdominal mass, treated surgically with histopathology results of a retroperitoneal RMS. We discuss the clinical presentation, image findings, and treatment for this case. Conclusion: Intraabdominal tumours need to be identified quickly and precisely. CT scan or MRI can help clinicians to determine the staging, therefore plans the best treatment for the patient. In our case, surgery and radiotherapy showed promising outcome. The lack of literature and consensus on a standardized approach to systemic treatment and outcome in retroperitoneal pleomorphic RMS in adults makes our case a rare presentation of rhabdomyosarcoma and thus the need for reporting.  

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