scholarly journals A case report: 46 XY-disorder of sexual development

2019 ◽  
Vol 8 (3) ◽  
pp. 1200
Author(s):  
Tejal Kansara ◽  
Tushar Shah ◽  
Yesha Umbharatwala
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Multidisciplinary Approach ◽  
Correct Diagnosis ◽  
External Genitalia ◽  
Peripheral Blood Lymphocytes ◽  
Dysmorphic Features ◽  
Disorder Of Sexual Development ◽  
The Family ◽  
Male Karyotype

Authors report a case of a 6-year-old child with syndromic 46, XY disorder of sexual development. From the birth patient was assigned female. Physical examination showed dysmorphic features and ambiguous external genitalia. Cytogenetic analysis of cultured peripheral blood lymphocytes revealed a male karyotype. The result of the chromosomal investigation showing male genetic sex, together with the ambivalent aspect of the external genitalia and gonads that are exclusively testes led to the diagnosis of 46, XY disorder of sexual development. The clinical management will help the child and the family deal effectively with this condition A multidisciplinary approach to this problem involving pediatricians, specialists in the field of endocrinology, genetics, surgery and psychiatry is necessary in order to reach a prompt and correct diagnosis and treatment.

46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report

2021 ◽  
Vol 10 (1) ◽  
pp. 45-47
Author(s):  
Anil Kumar Sah ◽  
Bipin Maharjan ◽  
Mahesh Bahadur Adhikari ◽  
Suman Baral ◽  
Mimi Giri
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Dehydrogenase Deficiency ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
Androgen Action ◽  
Disorder Of Sexual Development ◽  
Insufficiency Syndrome ◽  
Atypical Development ◽  
Female External Genitalia

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. Genetic males with DSD (46 XY DSD) can present with female external genital phenotype, ambiguous, or a micropenis. It is caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. It results either from decreased synthesis of testosterone or DHT or from impairment of androgen action. Herein, we report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris with hormonal assessment not suggestive of either 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome or 17β-Hydroxysteroid Dehydrogenase deficiency

scholarly journals 46,XX Male Disorder of Sexual Development: A Case Report

2013 ◽  
Vol 5 (4) ◽  
pp. 258-260 ◽  
Author(s):  
Anık Ahmet ◽  
Çatlı Gönül ◽  
Abacı Ayhan ◽  
Böber Ece
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Disorder Of Sexual Development ◽  
Xx Male

Two different patterns of mini-puberty in two 46,XY newborns with 17β-hydroxysteroid dehydrogenase type 3 deficiency

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Korcan Demir ◽  
Melek Yıldız ◽  
Özlem Nalbantoğlu Elmas ◽  
Hüseyin Anıl Korkmaz ◽  
Selma Tunç ◽  
...  
Keyword(s):  
Chorionic Gonadotropin ◽  
Sexual Development ◽  
External Genitalia ◽  
Hydroxysteroid Dehydrogenase ◽  
First Case ◽  
Disorder Of Sexual Development ◽  
Low Testosterone ◽  
Low Levels ◽  
Type 3 ◽  
Female External Genitalia

AbstractWe report two newborns with female external genitalia and bilateral inguinal swelling who were diagnosed with 17β-hydroxysteroid dehydrogenase type 3 deficiency, a rare cause of 46,XY disorder of sexual development. The first case had normal clitoral size and vaginal and urethral openings, palpable gonads in the inguinal region, low testosterone, and low levels of basal and GNRH-stimulated gonadotropin. The second case had similar external genitalia, low testosterone but borderline basal and normal stimulated gonadotropin levels. Low testosterone/androstenedione ratios (0.22 and 0.24, respectively; normal, >0.8) after human chorionic gonadotropin stimulation indicated 17β-hydroxysteroid dehydrogenase type 3 deficiency.

scholarly journals Ovotesticular disorder of sexual development in a patient with 46,XY karyotype

2017 ◽  
Vol 63 (3) ◽  
pp. 201-203
Author(s):  
Nadezda Y. Raygorodskaya ◽  
Nina V. Bolotova ◽  
Danil A. Jarkov ◽  
Tatyana V. Palatova ◽  
Natalya S. Dorovskaya
Keyword(s):  
Histological Examination ◽  
Sexual Development ◽  
Ovarian Tissue ◽  
External Genitalia ◽  
Gonadal Differentiation ◽  
Tubular Epithelium ◽  
Fallopian Tubes ◽  
Primordial Follicles ◽  
Cellular Changes ◽  
Disorder Of Sexual Development

A 46,XY ovotesticular disorder of sexual development is a rare variant of pathological gonadal differentiation. A 15-month-old patient had ambiguous external genitalia, no palpable gonads, and the 46,XY karyotype. The uterus was detected by imaging of the lesser pelvis. Gonads resided on the fallopian tubes and macroscopically resembled ovotestes: each gonad consisted of two compartments separated by a connective tissue interlayer. Histological examination showed that one gonadal portion consisted for ovarian tissue, was differentiated into the cortical and medullary matter, and contained primordial follicles with pronounced dystrophic changes. The remaining portions consisted of immature tubular epithelium with proliferative cellular changes. The decision about bringing up as a female with possible adaptation during puberty was justified in this case. The surgical approach was selected on the basis of histological examination and a decision on performing gonadectomy was made.

scholarly journals Laparoscopic Assisted Orchidectomy Eases Future Insertion of Testicular Prosthesis in Paediatric Patients

2014 ◽  
Vol 2 (1) ◽  
pp. 33-34
Author(s):  
Dayang Anita Abdul Aziz ◽  
Zainal Adwin Abidin ◽  
Mahmud Mohd Nor ◽  
Suria Hayati Md Pauzi ◽  
Rahmah Rasat ◽  
...  
Keyword(s):  
Sexual Development ◽  
Open Surgery ◽  
External Genitalia ◽  
Malignant Change ◽  
High Ligation ◽  
Testicular Tumours ◽  
Novel Technique ◽  
Paediatric Patients ◽  
Disorder Of Sexual Development ◽  
Laparoscopic Assisted

High ligation orchidectomy in paediatric patients is performed for testicular tumours. This is carried out via open surgery at the inguinal or groin region. In these boys, elective insertion of testicular prostheses is carried out later to improve the external genitalia appearance. In most cases, insertion of testicular prosthesis or implant is carried out via the previous scar, to avoid prosthesis extrusion; however this is usually difficult due to scarring and may cause haematoma and possible infection. We report a novel technique of laparoscopic assisted orchidectomy in an adolescent boy with disorder of sexual development (DSD) whom was suspected of having bilateral gonadal (testicular) malignant change, he successfully underwent bilateral ligation of testicular vessels laparoscopically and removal of both testes via a midline scrotal raphe incision; hence avoiding bilateral groin incisions. With this method, future insertion of testicular prostheses can be carried out via virgin inguinal incisions.

scholarly journals 29: Ovotesticular disorder of sexual development: a case report

2019 ◽  
Vol 220 (3) ◽  
pp. S725-S726
Author(s):  
S. Kwon ◽  
C. Burks ◽  
J. Freed ◽  
J. Novo ◽  
D. El-Neemany ◽  
...  
Keyword(s):  
Case Report ◽  
Sexual Development ◽  
Disorder Of Sexual Development

scholarly journals Superficial Granulomatous Pyoderma Gangrenosum of the Penis: A Case Report

2006 ◽  
Vol 6 ◽  
pp. 2426-2429
Author(s):  
Shyamala S. Gopi ◽  
Alan T. Evans ◽  
Asif Raza ◽  
Derek J. Byrne
Keyword(s):  
Case Report ◽  
Pyoderma Gangrenosum ◽  
Correct Diagnosis ◽  
External Genitalia ◽  
Skin Lesions ◽  
Underlying Disease ◽  
Sinus Tract ◽  
Systemic Diseases ◽  
Histological Features ◽  
Penile Ulceration

Classic type of pyoderma gangrenosum (PG) is an uncommon ulceronecrotic cutaneous disease of uncertain aetiology characterised by broad zones of confluent ulceration with violaceous undermined margins. Some 50% of cases are associated with systemic diseases. The superficial granulomatous variant of pyoderma gangrenosum (SGPG) of the external genitalia is extremely rare Patients with this condition develop single or multiple ulcerated skin lesions often with sinus tract formation. The majority of these lesions were found on the trunk and limbs. SGPG is less likely to be associated with underlying disease processes than classic PG. We present a 58 year-old with recalcitrant penile ulceration demonstrated to be SGPG on biopsy. Although rare and poorly recognised, the histological features are sufficiently typical to allow the correct diagnosis to be established.

Partial urorectal septum malformation sequence in a kitten with disorder of sexual development

2014 ◽  
Vol 16 (12) ◽  
pp. 1016-1019 ◽  
Author(s):  
Brice S Reynolds ◽  
Amélie Pain ◽  
Patricia Meynaud-Collard ◽  
Joanna Nowacka-Woszuk ◽  
Izabela Szczerbal ◽  
...  
Keyword(s):  
Sexual Development ◽  
Leydig Cells ◽  
Rectourethral Fistula ◽  
Pathological Examination ◽  
Normal Male ◽  
Anal Opening ◽  
First Case ◽  
Disorder Of Sexual Development ◽  
Hedgehog Signalling Pathway ◽  
Male Karyotype

A 2-month-old kitten exhibited simultaneously an imperforate anus, hypospadias, rectourethral fistula and genital dysgenesis (penis restricted to the glans, absence of prepuce and bifid scrotum). Surgical correction consisted of separation of the urinary and digestive tracts, perineal urethrostomy and connection of the rectum to the newly made anal opening. Pathological examination of the testes, conventionally removed at 9 months of age, showed no mature spermatozoa and underdevelopment of germ and Leydig cells. In humans, the absence of an anal opening in association with abnormal sexual development defines the urorectal septum malformation sequence. Here, we describe the first case of this syndrome in a kitten with a normal male karyotype (38,XY) and a normal coding sequence for the SRY gene. Both the rectourethral fistula and observed genital abnormalities might have been induced by a disturbance in the hedgehog signalling pathway. However, although four polymorphic sites were identified by DHH gene sequencing, none cosegregated with the malformation.

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