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.

scholarly journals A Case of True Hermaphroditism Presenting as a Testicular Tumour

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Michelle Ceci ◽  
Edward Calleja ◽  
Edith Said ◽  
Noel Gatt
Keyword(s):  
Early Childhood ◽  
Case Report ◽  
Sexual Maturation ◽  
Sexual Differentiation ◽  
Ambiguous Genitalia ◽  
Normal Male ◽  
Left Testis ◽  
True Hermaphroditism ◽  
Male Phenotype ◽  
Disorders Of Sexual Differentiation

True hermaphroditism represents only 5% cases of all of disorders of sexual differentiation (DSD) and usually present in early childhood with ambiguous genitalia. Occasionally, cases might present later on in adolescence with problems of sexual maturation. Our case report presents a true hermaphrodite with normal male phenotype that presented as a left testicular mass, two years after being diagnosed with Sertoli cell only syndrome in the contralateral testis. Histological examination of the left testis showed ovarian, fallopian tube, myometrial, endometrial, and epididymal tissue. This combination of findings is found in approximately one-third of true hermaphrodites, but it is very rare to present clinically as an inguinoscrotal mass.

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.  

Ulnar Subluxation of the Extensor Pollicis Longus Tendon as a Cause of Congenital Clasped Thumb: A Case Report

2018 ◽  
Vol 23 (03) ◽  
pp. 408-411
Author(s):  
Takuma Wakasugi ◽  
Ritsuro Shirasaka
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Sensory Nerve ◽  
Corrective Surgery ◽  
Extension Deficit ◽  
Active Motion ◽  
Extensor Pollicis Longus ◽  
Ulnar Aspect ◽  
One Year ◽  
Extensor Pollicis Longus Tendon

A 15-year-old male patient presented with difficulty extending his right thumb due to subluxation of the extensor pollicis longus (EPL) tendon. Physical examination showed that active motion of the thumb’s metacarpophalangeal (MP) joint was 76° in flexion and -58° in extension. During active extension, the EPL tendon shifted onto the ulnar aspect of the MP joint, and the extensor pollicis brevis (EPB) tendon shifted onto the central dorsal course of the MP joint. After repositioning by adducting the thumb into the palm to extend the MP joint (dynamic tenodesis effect), active extension of the MP joint increased to -12°. Corrective surgery was performed under local anesthesia and radial sensory nerve block. Following plication of the attenuated dorsal capsule and sagittal band between the EPB and EPL, we confirmed that the patient could flex and extend the thumb smoothly. One year postoperatively, the extension deficit of the MP joint had not recurred.

scholarly journals Primary Pelvic Hydatid Cyst: A Case Report

2011 ◽  
Vol 2011 ◽  
pp. 1-3
Author(s):  
Fazl Q. Parray ◽  
Shadab Nabi Wani ◽  
Sajid Bazaz ◽  
Shakeel-ur Rehman Khan ◽  
Nighat Shaffi Malik
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Hydatid Cyst ◽  
Hydatid Disease ◽  
Disease Patient ◽  
Radiological Evaluation ◽  
General Physical Examination ◽  
General Physical

This is a case report of a young man who presented to us as a case of hypogastric pain and frequency of micturation. General physical examination and radiological evaluation confirmed a multiloculated pelvic swelling. Patient was subjected to laparotomy which confirmed the diagnosis of a primary pelvic hydatid disease. Patient was put on chemotherapy after surgery and is doing well on follow up.

scholarly journals Granulomatous Mastitis and Sarcoidosis Differential Diagnosis: A Case Report

2019 ◽  
Author(s):  
Sepehr Sahraiyan ◽  
Mahsa Abbaszadeh ◽  
Nasim Khajavi Rad ◽  
Sahar Karimpour Reyhan ◽  
Ali Afshari
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Physical Examination ◽  
Drug Treatment ◽  
Erythema Nodosum ◽  
Pathological Diagnosis ◽  
Definite Diagnosis ◽  
Granulomatous Mastitis ◽  
Inflammatory Drug

Granulomatous mastitis is a pathological diagnosis with a variety of causes, and its treatment depends on the underlying cause. We report a case of granulomatous mastitis in a 25-year-old woman admitted with erythema nodosum and an unresponded acute inflammatory mastitis to treatment. It was challenging for us to make a definite diagnosis between sarcoidosis and idiopathic lobular granulomatous mastitis for her. In the end, our diagnosis was sarcoidosis because of dactylitis we found in her physical examination which responded dramatically to nonsteroidal anti-inflammatory drug treatment. We started therapy with corticosteroids and immunosuppressant drugs and offered her continuous follow-up.

Intraosseous Stab Wound of Scapula: A Case Report

2020 ◽  
Author(s):  
Mohsen Rezaei Nosrati ◽  
Salar Baghbani ◽  
Yousef Fallah ◽  
Babak Siavashi ◽  
Mohammad Reza Golbakhsh
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Physical Examination ◽  
Stab Wound ◽  
Stab Wounds ◽  
Iatrogenic Injuries ◽  
Physical Examinations ◽  
The Right

Background: Intraosseous stab wounds are extremely rare. Only a few cases have been reported in the upper extremity. Case Report: In this report, we presented a case of stab wound to the right shoulder with penetration to the scapula. The patient was successfully managed in a team-based approach. During a 12-month follow-up, he showed no abnormality in passive and active movements or physical examination. Conclusion: Relying on the physical examinations and paraclinical studies may be an appropriate substitution for exploration surgery when possible iatrogenic injuries may affect the patient's quality of life.

Brachialis Strain in a Collegiate Wrestler: A Case Report

2020 ◽  
Vol 25 (4) ◽  
pp. 181-184
Author(s):  
James Geiselman ◽  
Rachel Gillespie ◽  
Andrew Miller
Keyword(s):  
Case Report ◽  
Conservative Treatment ◽  
Physical Examination ◽  
Chiropractic Care ◽  
Diagnosis And Treatment ◽  
Athletic Trainer ◽  
The Past ◽  
Unrelated Condition ◽  
Brachialis Muscle

A 22-year-old male varsity collegiate wrestler presented for general chiropractic care for an unrelated condition and noted right elbow pain that had progressively increased over the past few weeks. The athlete was diagnosed with a right brachialis strain and advised to follow up with his athletic trainer for co-management of his injury. The patient responded positively to prescribed treatments and rehabilitation to decrease pain and restore functionality (<14 days) while only missing one competitive match. The location of the brachialis muscle and scarcity of literature makes diagnosis and treatment complex. The physical examination and conservative treatment presented in this report demonstrate the need for comprehensive and exploratory examination and co-management of wrestling athletes with a brachialis strain.

scholarly journals Subclinical pericarditis long after SARS-CoV-2 infection: a case report

2021 ◽  
Vol 17 (2) ◽  
Author(s):  
Anna Giulia Falchi ◽  
Sergio Leonardi ◽  
Giovanni Cappa ◽  
Stefano Perlini
Keyword(s):  
Emergency Department ◽  
Case Report ◽  
Physical Examination ◽  
Sinus Tachycardia ◽  
Rare Complication ◽  
Initial Reduction ◽  
St Elevation ◽  
Electrocardiogram Ecg ◽  
Pericardial Involvement

We describe a rare complication of COVID-19 long after infection in a 76-years-old man presented to the Emergency Department with dyspnea and palpitations. A 12-lead Electrocardiogram (ECG) showed sinus tachycardia PR depression in the inferior leads associated with an apparent pseudo ST elevation. In the absence of elevation of inflammatory indices, considering the lack of symptoms neither NSAIDs nor colchicine were prescribed, and the patient was referred for clinical follow-up. After ten days ECG documented initial reduction of the widespread concave STE and PR depression, and the 1-month follow- up visit, the patient was asymptomatic with unremarkable physical examination, and a 12-lead ECG showed almost complete normalization of the ST and PR segments. Although pericardial involvement after COVID-19 infection has been already described, the incidence of subclinical pericarditis has not and may have implications for the monitoring of patients with uncomplicated COVID-19 infection managed as outpatients.

Sign in / Sign up

Export Citation Format

Share Document