A Hospital-Based Study: Interventions for Patients with Disorders of Sex Development (DSD) in National Reference Hospital, South Sumatera Region, Indonesia

2019 ◽  
Vol 3 (2) ◽  
pp. 10-18
Author(s):  
Ziske Maritska ◽  
Bintang Arroyantri Prananjaya ◽  
Andhika Diaz Maulana
Keyword(s):  
Psychological Intervention ◽  
Disorders Of Sex Development ◽  
Medical Intervention ◽  
Clinical Findings ◽  
National Reference ◽  
Sex Development ◽  
Reference Hospital ◽  
Congenital Condition ◽  
The Many ◽  
Common Clinical Finding

ABSTRACT Background. Disorders of Sex Development (DSD) is a term used to describe a congenital condition where sex chromosomes, gonads, and or anatomy of a person are atypical.  It is estimated to affect 1:4,500 people worlwide with varied clinical findings, hence the integrated and diverse interventions. Objective. This study wished to observe the many interventions DSD patients received in Dr. Mohammad Hoesin Hospital as one of the national reference hospitals in Indonesia for South Sumatera region. Methods. Medical records of 173 patients with clinical findings in accordance with DSD spectrum during 2013-2017 was observed in order to identify both surgical and medical interventions applied. Results. Sixty two patients were diagnosed of having hypospadias (35.84%), making it the most common clinical finding among DSD patients in this hospital.  Surgical intervention was the most favored intervention, with 155 patients (89.6%) underwent various surgeries, ranging from urethroplasty to vaginoplasty and many more.  Five patients(2.9%) were treated with either hydrocortisone and florinef, or both.  One patient diagnosed with Congenital Adrenal Hyperplasia (CAH) had both surgical and medical intervention. Conclusion. DSD gives a wide phenotypic spectrum, making its management both challenging and complicated.  Surgical, medical, and or a combination of both are the indispensable interventions when dealing with DSD patients.  Study focusing on psychological intervention for DSD patients is further needed.   Keyword: Disorders of Sex Development, DSD, surgical, medical, intervention.

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 Long-Range Regulation of Key Sex Determination Genes

2021 ◽  
pp. 1-21
Author(s):  
Roberta Migale ◽  
Michelle Neumann ◽  
Robin Lovell-Badge
Keyword(s):  
Sex Determination ◽  
Long Range ◽  
Current Knowledge ◽  
Disorders Of Sex Development ◽  
Sexually Dimorphic ◽  
Protein Coding ◽  
Sex Development ◽  
Human Disorders ◽  
The Many

The development of sexually dimorphic gonads is a unique process that starts with the specification of the bipotential genital ridges and culminates with the development of fully differentiated ovaries and testes in females and males, respectively. Research on sex determination has been mostly focused on the identification of sex determination genes, the majority of which encode for proteins and specifically transcription factors such as SOX9 in the testes and FOXL2 in the ovaries. Our understanding of which factors may be critical for sex determination have benefited from the study of human disorders of sex development (DSD) and animal models, such as the mouse and the goat, as these often replicate the same phenotypes observed in humans when mutations or chromosomic rearrangements arise in protein-coding genes. Despite the advances made so far in explaining the role of key factors such as SRY, SOX9, and FOXL2 and the genes they control, what may regulate these factors upstream is not entirely understood, often resulting in the inability to correctly diagnose DSD patients. The role of non-coding DNA, which represents 98% of the human genome, in sex determination has only recently begun to be fully appreciated. In this review, we summarize the current knowledge on the long-range regulation of 2 important sex determination genes, <i>SOX9</i> and <i>FOXL2</i>, and discuss the challenges that lie ahead and the many avenues of research yet to be explored in the sex determination field.

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.

scholarly journals Disorder Of Sex Development : Ambiguous Genitalia, Partial Androgen Insensitivity Syndrome

2018 ◽  
Vol 3 (2) ◽  
pp. 1
Author(s):  
Rajuddin Rajuddin ◽  
Fauzan Fauzan
Keyword(s):  
Disorders Of Sex Development ◽  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Gender Assignment ◽  
Androgen Insensitivity ◽  
Sex Development ◽  
Molecular Term ◽  
Congenital Condition ◽  
Partial Androgen Insensitivity Syndrome

Disorders of sex development (DSDs) also known as “intersex” are congenital condition by mismatch in which chromosomal, gonadal and anatomical. One in 4.500 infants is born with abnormalities of External genitalia, and mostly unexplained in molecular term. Androgen Insensitivity Syndrome (AIS) is a common cause of DSDs. Partial Androgen Insensitivity Syndrome (PAIS) is one of three broad subdivided phenotypes of AIS. Typically, characterized by evidence of feminization (i.e., undermasculinization) of the external genitalia at birth, abnormal secondary sexual development in puberty, and infertility in individuals with a 46,XY karyotype. In males characterized, Pais is common to observe a micropenis, hypospadias, and cryptorchidism. Individuals with PAIS that are characterized as women have been observe to have clitoromegaly and a fused labia during puberity . We reported a 13 year old child, with chief complaint primer amenorrhea. The patient admit as a girl but not yet got her menstruation. Patient was referred by Endocrinology Fertility and Reproductive Consultant of OBGYN, that has done Cromosomal and Hormonal analysis. We perform a laparascopy Exploratif and we get no uterus, fallopian tubal and ovarium that are exist. But, we found testis in inguinal canal.  Decision regarding gender assignment are still confronted between patient”s Family and medical staff. The prognosis is depends on the ambiguity of genital, Physical, and Physicosocial adjustment for sex assignment.

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