scholarly journals Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 XY disorders of sex development during childhood

2011 ◽  
Vol 165 (6) ◽  
pp. 907-915 ◽  
Author(s):  
Thomas Blanc ◽  
Ahmed Ayedi ◽  
Alaa El-Ghoneimi ◽  
Hendy Abdoul ◽  
Yves Aigrain ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Serum Testosterone ◽  
Clinical Findings ◽  
University Hospital ◽  
Testicular Function ◽  
Adult Males ◽  
Testosterone Treatment ◽  
Sex Development ◽  
Penis Length

ObjectiveThere are few studies of outcome in male patients with undefined 46 XY disorder of sex development (DSD). We aimed to assess testicular function and clinical characteristics after puberty in men with idiopathic 46 XY DSD.DesignWe conducted a University Hospital-based observational follow-up study.MethodsNineteen patients with severe hypospadias associated with other signs of defective virilization, such as microphallus, cryptorchidism, and/or bifid scrotum, who were initially managed during childhood between 1988 and 1994, were evaluated at a median age of 17.6 (16.3; 17.8) years. Outcome measures included clinical findings and serum testosterone, FSH, LH, and inhibin B concentrations.ResultsTesticular function was normal in only five (26%) patients. Impaired testicular function was observed in 14 (74%) patients and was partial (n=6; 32%) or total (n=8; 42%), requiring testosterone treatment for the initial (n=2) or secondary (n=6) induction of puberty. Undescended testis (unilateral n=3, bilateral n=2) was found and surgically managed only in the 14 patients with testicular impairment. Testosterone treatment in early childhood greatly increased penis length in all patients, but persistent microphallus following surgical treatment was observed at the end of puberty in most patients, with no difference between patients with and without testicular dysfunction (penis length of 68 (60; 75) vs 65 (60; 65) mm; P=0.42). Half the patients presented an adult height more than 5 cm below their target height.ConclusionMen diagnosed with idiopathic 46 XY DSD during childhood are at high risk of testicular insufficiency and persistent micropenis, and this should be taken into account during the follow-up.

In Children with 46, XY DSD; HCG Testing Is Not Always the Best Answer for Testicular Function Assessment

2021 ◽  
Author(s):  
Shaymaa Raafat ◽  
Doaa Khater
Keyword(s):  
Disorders Of Sex Development ◽  
Serum Testosterone ◽  
Inhibin B ◽  
Stimulation Test ◽  
Testicular Function ◽  
Non Invasive ◽  
Sex Development ◽  
Before And After ◽  
And Function

Abstract Hormonal levels are the hallmark for the assessment of testicular function in XY DSD (Disorders of sex development). Traditionally, it has relied on testosterone level increment after hCG (human chorionic gonadotropin) stimulation testing. More recently role of Sertoli cell hormones is more emphasized.Objectives: Evaluating the role of serum anti-mullerian hormone and inhibin B on function of the pre-pubertal testis without the need for hCG stimulation test.Method: The study was conducted in the Endocrinology Clinic in Alexandria University Children's Hospital. All patients who present with XY DSD were tested for testosterone (T), dihydrotestosterone (DHT), Follicle stimulating hormone (FSH), luteinizing hormone (LH), anti-mullerian hormone (AMH), inhibin B. All cases had hCG stimulation test.Results: The hCG stimulation test was done for 32 cases. There was significant positive correlation between serum testosterone levels before and after hCG stimulation test (p <0.001). Similarly, significant correlation was identified between basal AMH and testosterone increment after hCG stimulation (p <0.001) and between basal levels of AMH and inhibin (MCp= 0.025).Conclusion: Single measurement of basal AMH and/or inhibin B can detect the presence and function of testes by a reliable non-invasive way. Basal AMH assessment is an important tool to distinguish between cryptorchidism and anorchia. hCG test is needed in the work-up of patients with inconclusive results.

Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital

2020 ◽  
Vol 33 (5) ◽  
pp. 605-611
Author(s):  
Birsen Şentürk Pilan ◽  
Burcu Özbaran ◽  
Didem Çelik ◽  
Tuğçe Özcan ◽  
Samim Özen ◽  
...  
Keyword(s):  
Multidisciplinary Team ◽  
Psychiatric Diagnosis ◽  
Disorders Of Sex Development ◽  
Structured Interview ◽  
University Hospital ◽  
School Age Children ◽  
Psychiatric Evaluation ◽  
Androgen Synthesis ◽  
Sex Development

AbstractBackgroundPsychiatric consultation is important in the follow-up of disorders of sex development (DSD) patients. In this study, we aimed to present the 12-year psychiatric follow-up data of the patients who were referred by Ege University Medical Faculty DSD Multidisciplinary Team and followed up in Child and Adolescent Psychiatry.MethodsPsychiatric data of 118 patients, who were followed by the DSD multidisciplinary team between 2007 and 2019, were reviewed retrospectively. The psychiatric diagnoses of the patients were evaluated according to semi-structured interview form Schedule for Affective Disorders and Schizophrenia for School-Age Children/Present and Lifetime Turkish Version.ResultsThe mean age of the 118 cases was 13.21 years (±7.18). Endocrine diagnoses of the cases were 46 XX DSD in 35 (29.6%), 46 XY DSD in 81 (68.7%), and chromosome disorders in 2 (1.7%). There was at least psychiatric diagnosis in 36 (30.5%) cases. The most common psychiatric diagnosis was attention deficit and hyperactivity disorder (ADHD) (n = 18, 15.3%). ADHD was most common in congenital adrenal hyperplasia (n = 4, 22.4%) and androgen synthesis defects (ASD) (n = 4, 22.4%); depression was most common in complete gonadal dysgenesis and ASD (n = 3, 23.1%); and mental retardation was most common in ASD (n = 3, 37.5%).ConclusionsIn order to provide a healthy perspective for cases with DSD, it is important to make a psychiatric evaluation and to share observations and clinical findings in regular team meetings.

Disorders of sex development

2017 ◽  
Author(s):  
David F.M. Thomas
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Surgical Reconstruction ◽  
Adrenal Hyperplasia ◽  
Specialist Care ◽  
Gender Assignment ◽  
Developmental Abnormalities ◽  
Sex Development

The aetiology of disorders of sex development (DSD) is multifactorial and includes chromosomal defects, developmental abnormalities of the gonads, and defects of hormonal synthesis and expression. Infants born with ambiguous genitalia require urgent investigation because of the risk of hyponatraemia associated with congenital adrenal hyperplasia (CAH) and to permit an informed decision on gender assignment. CAH is the commonest form of DSD, accounting for around 80% of all infants born with ambiguous genitalia. Despite controversy regarding timing and consent, feminizing genitoplasty in early childhood remains the accepted management for girls with significant clitoromegaly. Surgical reconstruction for 46XY DSD is guided by several factors, notably the size of the phallus and gonadal phenotype. The majority of individuals with disorders of sex development will require ongoing specialist care and long-term multidisciplinary follow-up and support.

The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Nasir A.M. Al-Jurayyan ◽  
Sharifah D.A. Al Issa ◽  
Abdulrahman M.H. Al Nemri ◽  
Hessah M.N. Al Otaibi ◽  
Amir M.I. Babiker
Keyword(s):  
Saudi Arabia ◽  
Wide Spectrum ◽  
Disorders Of Sex Development ◽  
Case Series ◽  
Clinical Spectrum ◽  
University Hospital ◽  
Androgen Insensitivity ◽  
Reductase Deficiency ◽  
Sex Development ◽  
Number Of Patients

AbstractThe term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The spectrum of the 46XY (DSD) is so broad. In this study, we reviewed the clinical spectrum of a cohort of patients with 46XY DSD in a tertiary institute in the Middle East over two decades.To define the clinical spectrum of 46XY DSD in a major teaching hospital, Riyadh, Saudi Arabia.This is a retrospective, case series hospital-based study. The case notes, laboratory investigations, and imaging studies were reviewed for patients with 46XY DSD over a 20 years period (1989–2010) at King Khalid University Hospital, Riyadh, Saudi Arabia. Molecular genetics were not available in all patients.During the period under review; a total of 56 patients were seen with 46XY DSD due to variable etiologies. Androgen insensitivity syndromes (AIS) and 5-α-reductase deficiency were among the commonest (44.6%), with multiple siblings involvement within the family. Of these, 16 patients were showing variable degrees of insensitivity ranging between complete (n=5, 31.2%) and partial (n=11, 68.8%) insensitivity, whereas in nine patients the diagnosis of 5-α-reductase deficiency was entertained based on hormonal studies. Of interest to see was a high number of patients (n=14, 25%) either with a localized congenital anomalies such as the cloacal anomalies or generalized congenital malformations following the pattern of certain syndromes.A wide spectrum of causes were noted. Androgen insensitivity syndrome was the commonest. In Saudi Arabia, where consanguineous mating is high, 5-α-reductase is also a common cause of 46XY DSD.

scholarly journals Long-Term Evaluation of Patients Undergoing Genitoplasty due to Disorders of Sex Development: Results from a 14-Year Follow-Up

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Heng Zhang ◽  
Jinhong Pan ◽  
Huixiang Ji ◽  
Yongquan Wang ◽  
Wenhao Shen ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Sex Development ◽  
Term Evaluation

scholarly journals Geographical Variations of Disorders of Sex Development (DSD) in South Sumatera Region

2019 ◽  
Vol 3 (3) ◽  
pp. 24-33
Author(s):  
Ziske Maritska ◽  
Bintang Arroyantri Prananjaya ◽  
Zabila Adwie Prilishia ◽  
Nita Parisa ◽  
Sativandi Riza
Keyword(s):  
Risk Factors ◽  
Medical Records ◽  
Disorders Of Sex Development ◽  
Clinical Findings ◽  
Environmental Risks ◽  
Capital City ◽  
Future Studies ◽  
Sex Development ◽  
Geographical Variations ◽  
Show Difference

ABSTRACT Background. Disorders of Sex Development (DSD) is a condition where the development of sex chromosomes, gonads, and/or one’s anatomy is atypical. Its causes are often due to genetic mutations, although some are also linked to environmental risk factors. These multiple aetiologies lead to varied clinical findings, ranging from obvious ambiguous genitals to subtle ones in different regions worldwide, signalling a hint of geographical variability. Objective. This study wishes to observe the variations of clinical findings of DSD patients geographically in South Sumatera. Methods. This was an observational study using patients’ medical records in RSUP Dr. Mohammad Hoesin Palembang. Both inpatients and outpatients during five-year period span (2013-2017) with clinical findings suited DSD criteria based on Chicago Consensus in 2006 were included in this study. Results. One hundred and forty nine patients from cities and regencies in South Sumatera province and other provinces like Jambi, Lampung, Bengkulu, Bangka-Belitung, and even Riau were included in this study. Among sixteen clinical findings identified, hypospadias ranked first (59.06%), both in general, and in each regions as well. When set by side with other regions, Palembang city as the capital city of South Sumatera province displays twelve out of sixteen clinical findings documented in this study, showing a lot more variety. Conclusion. Every regions show difference clinical findings. Some regions housed clinical findings that were not found in other regions. However, hypospadias is the most commonly found clinical findings in all regions. It is suspected due to its correlation with certain environmental risks, that the occurence of it becomes rather often, compared to other DSD conditions. Future studies considering risk factors involvement in order to elucidate both differences and similarities found in each regions are strongly suggested.   Keywords: Disorders of Sex Development, DSD, Geographical variations, South Sumatera  

scholarly journals MAMLD1 and Differences/Disorders of Sex Development: An Update

2021 ◽  
pp. 1-12
Author(s):  
Mami Miyado ◽  
Maki Fukami ◽  
Tsutomu Ogata
Keyword(s):  
Leydig Cell ◽  
Disorders Of Sex Development ◽  
External Genitalia ◽  
Gene Interactions ◽  
Testicular Function ◽  
Ovarian Dysfunction ◽  
Causative Gene ◽  
Fetal Testis ◽  
Sex Development ◽  
Age Dependent

<i>MAMLD1</i> (alias <i>CXorf6</i>) was first documented in 2006 as a causative gene of 46,XY differences/disorders of sex development (DSD). <i>MAMLD1</i>/<i>Mamld1</i> is expressed in the fetal testis and is predicted to enhance the expression of several Leydig cell-specific genes. To date, hemizygous <i>MAMLD1</i> variants have been identified in multiple 46,XY individuals with hypomasculinized external genitalia. Pathogenic <i>MAMLD1</i> variants are likely to cause genital abnormalities at birth and are possibly associated with age-dependent deterioration of testicular function. In addition, some <i>MAMLD1</i> variants have been identified in 46,XX individuals with ovarian dysfunction. However, recent studies have raised the possibility that <i>MAMLD1</i> variants cause 46,XY DSD and ovarian dysfunction as oligogenic disorders. Unsolved issues regarding MAMLD1 include the association between <i>MAMLD1</i> variants and 46,XX testicular DSD, gene-gene interactions in the development of <i>MAMLD1</i>-mediated DSD, and intracellular functions of MAMLD1.

scholarly journals 46 XY DISORDER

2016 ◽  
Vol 23 (10) ◽  
pp. 1202-1208
Author(s):  
Muhammad Naveed Najeeb ◽  
Sadiq Hussain Malik ◽  
Sheikh Khurram Salam Sehgal ◽  
Ameer Ahmad Malik ◽  
Saqib Mehmood
Keyword(s):  
Physical Examination ◽  
Study Design ◽  
Gonadal Dysgenesis ◽  
Disorders Of Sex Development ◽  
Serum Testosterone ◽  
Androgen Insensitivity Syndrome ◽  
Base Line ◽  
Reductase Deficiency ◽  
Androgen Synthesis ◽  
Sex Development

Objectives: The Disorders of Sex Development are classified as 46, XY DSD,46, XX DSD and Chromosomal DSD according to the chromosomal constitution of the affectedpersons. 46, XY DSD is further classified into Androgen Synthetic Defect, Androgen InsensitivitySyndrome Gonadal Dysgenesis, 5-Alpha Reductase Deficiency, Persistent Mullerian DuctSyndrome and Isolated Hypospadias according to the pathophysiology of the disease. Theaim of present study was to classify 46, XY patients into their subclasses on the basis of theirhormonal profile and physical examination. Study Design: Observational descriptive study.Setting: Biochemistry Department University of Health Sciences for Karyotyping and Geneticassessment, and its allied institution Biochemistry Department Quaid-e-Azam Medical CollegeBahawalpur for hormonal analysis, along with Pediatric Medicine Departments of Quaid-e-AzamMedical College / Bahawal Victoria Hospital Bahawalpur for collection of Sample and clinicalassessments. Period: June 2015 to December 2015. Study Design: Observational descriptivestudy. Material and Methods: 53 patients with 46, XY DSD were recruited. Complete clinicalhistory and data of each patient was recorded in the research proforma. Genitals examinedfor the phallus length and size, position of urinary meatus, palpation of gonads and shape ofthe labioscrotal folds. Ultrasonography examination of each patient was performed to look forundescended testes and for the presence of either male or female internal reproductive organs.Results: Base line levels of serum Testosterone Dihydrotestosterone Luteinizing hormone,Follicle stimulating hormone, 17-OH-Progesteron and Anti-mullerian hormones were measuredby ELISA technique. Testosterone and DHT were measured again after hCG stimulation. Onthe basis of physical examination, ultrasonographic findings and hormonal profile diagnosisof the types of 46, XY DSD was possible in 27 (51%) of patients. Androgen synthesis defect asa cause of 46, XY DSD was diagnosed in 7(13%) patients, Androgen insensitivity syndrome in6(11%) patients, 5-Alpha reductase deficiency in 3(6%) patients, Gonadal Dysgenesis in 3 (6%),Persistent Mullerian Duct Syndrome in 3(6%) and Isolated Hypospadias in 2 (4%) patients.There were 26 (49%) patients which remain undiagnosed with the algorithm of diagnosis usedin the present study.

Molecular Analysis of the AR and SRD5A2 Genes in Patients with 46,XY Disorders of Sex Development

2008 ◽  
Vol 21 (6) ◽  
pp. 545-554
Author(s):  
Jin-Ho Choi ◽  
Gu-Hwan Kim ◽  
Eul-Ju Seo ◽  
Kun-Suk Kim ◽  
Sung Hoon Kim ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Dna Analysis ◽  
Disorders Of Sex Development ◽  
Plasma Renin ◽  
Serum Testosterone ◽  
Androgen Insensitivity Syndrome ◽  
Reference Ranges ◽  
Reductase Deficiency ◽  
Sex Development ◽  
Precise Diagnosis

Abstract The aim of this study was to assess the clinical and endocrinological features, and to analyze AR and SRD5A2 genes in patients with 46,XY disorders of sex development (DSD). This study included 20 patients from 19 families showing clinical features of 46,XY DSD. Molecular analysis was performed of the AR and SRD5A2 genes, as well as endocrinological evaluations, such as 17a-hydroxyprogesterone, plasma renin activity, aldosterone, adrenocorticotropic hormone and hCG stimulation test. Out of 20 patients with 46,XY DSD, only one (5%) displayed androgen insensitivity syndrome (AIS), and four (20%) were Sa-reductase deficient by mutation analysis. The patient with AIS revealed significant elevation of serum testosterone following hCG stimulation. The patient with Sa-reductase deficiency with a homozygous p.R246Q mutation had a low basal dihydrotestosterone level. The patient with p.Q6X/p.R246Q mutations showed a moderately elevated testosterone/ dihydrotestosterone ratio following hCG stimulation. Endocrinological tests are not reliable for the etiological diagnosis of AIS and Sa-reductase deficiency due to variable reference ranges of hormonal profiles according to the age and the severity of the enzyme defect. DNA analysis may be employed as a tool for the early and precise diagnosis of patients with 46,XY DSD, and genetic counseling can be used for families at risk.

scholarly journals Accuracy of Urinary Etiocholanolone/Androsterone Ratio as Alternative to Serum Testosterone/Dihydrotestosterone Ratio for Diagnosis of 5 Alpha-reductase Type 2 Deficiency Patients and Carriers in Indonesia

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Nanis Sacharina Marzuki ◽  
Firman Pratama Idris ◽  
Hannie Kartapradja ◽  
Shirley Renata ◽  
Alida Harahap ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Disorders Of Sex Development ◽  
Cost Benefit ◽  
Serum Testosterone ◽  
Diagnostic Value ◽  
Roc Curve Analysis ◽  
Sex Development ◽  
Srd5a2 Gene ◽  
Alternative Test

Background: The 5 Alpha-reductase type 2 deficiency (5ARD2) is an inherited condition, which clinically presents as variable degrees of under virilization in affected 46,XY individuals. In the diagnostic pathway of 5ARD2, the testosterone/dihydrotestosterone (T/DHT) ratio is broadly employed before molecular analysis of the SRD5A2 gene. However, due to cost-benefit considerations, the DHT test in our country is routinely lacking in clinical settings; therefore, we considered applying the urinary etiocholanolone/androsterone (Et/An) ratio as an alternative test. Objectives: We aimed to determine the diagnostic value of the urinary Et/An ratio versus the T/DHT ratio in diagnosing 5ARD2 patients and carriers. Methods: Sixty-six suspected 5ARD2 46,XY disorders of sex development (DSD) individuals and 95 family members were recruited in the study. Their physical manifestations, T/DHT and urinary Et/An ratios, and SRD5A2 genes were analyzed. Using molecular analysis of the SRD5A2 gene as the gold standard, we compared the accuracy of both ratios in diagnosing 5ARD2 patients and carriers with receiver operating characteristic (ROC) curve analysis. Results: Thirty-seven patients were confirmed molecularly to have 5ARD2, and the rest (n = 29) were assessed as normal controls, while in the carrier group, 53 were molecularly confirmed as carriers and 42 as controls. The AUCs (areas under the curve) of the T/DHT and urinary Et/An ratios were 57.7% (95% CI 43.0 - 72.4%, P > 0.05) and 79.7% (95% CI 69.0 - 90.4%, P < 0.001), respectively, in diagnosing 5ARD2 patients and 54.1% (95% CI 42.4 - 65.8%, P > 0.05) and 75.1% (95% CI 65.1 - 85.1%, P < 0.001), respectively, in diagnosing carriers. The cutoff value of the urinary Et/An ratio was set at ≥ 0.95 for detecting 5ARD2 patients and ≥ 0.99 for detecting carriers. Conclusions: The testosterone/DHT ratio was inaccurate in diagnosing 5ARD2 patients. When molecular analysis for the SRD5A2 gene is lacking, the urinary Et/An ratio may be a useful test to diagnose 5ARD2 patients and carriers.

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