scholarly journals Breast Augmentation in Swyer Syndrome Patient

1970 ◽  
Vol 1 (5) ◽  
Author(s):  
Vika Tania ◽  
Aditya Wardhana
Keyword(s):  
Breast Augmentation ◽  
Disorders Of Sex Development ◽  
Later Life ◽  
Normal Female ◽  
Complete Evaluation ◽  
Sex Development ◽  
Sexual Characteristics ◽  
Classi Cation ◽  
History Of ◽  
Serious Disease

Background: The number of breast augmentation in Indonesia has been raised, especially in young women. Women with disorders of sex development (DSD) can be one of our patients that come for breast augmentation. These patients may also have other problems that can lead to serious disease in her later life, such as malignancies which has 30% probability.Patients and Methods: We report one case of female with 46 XY karyotype and normal female phenotype. She appeared to be normal female but did not develop secondary sexual characteristics at puberty with Tanner classi!cation M1P1, did not menstruate, and had streak gonads in ovarian localization. This gonadal dysgenesis syndrome is also called Swyer syndrome.Result: A clinical team consists of plastic surgeons, gynecologist, psychiatrist, geneticist was build to manage our patient comprehensively. We performed breast augmentation, laparoscopic gonadectomy, and psychological support.Summary: Patient with disorder of sex development (DSD) can be one of our patients who come for breast augmentation. One must pay attention to subtle sign leading to DSD patients such as, history of amenorrhea, wide chest and lack of women body curve. Complete evaluation of sexual development is needed before performing breast augmentation.

Female Hyperandrogenism in Elite Sports and the Athletic Triad

2021 ◽  
Author(s):  
Angelica Lindén Hirschberg
Keyword(s):  
Female Athletes ◽  
Polycystic Ovary ◽  
Disorders Of Sex Development ◽  
Normal Female ◽  
Menstrual Disorders ◽  
Mineral Density ◽  
Energy Deficiency ◽  
Sex Development ◽  
Endocrine Disturbances ◽  
Increased Risk

AbstractEssential hyperandrogenism seems to be overrepresented in female elite athletes. This applies to mild forms such as polycystic ovary syndrome, as well as rare differences/disorders of sex development (DSD). The reason is likely a selection bias since there is increasing evidence that androgens are beneficial for athletic performance by potent anabolic effects on muscle mass and bone mass, and stimulation of erythropoiesis. XY DSD may cause a greatly increased production of testosterone in the male range, that is, 10 to 20 times higher than the normal female range. The established regulations concerning the eligibility of female athletes with severe hyperandrogenism to compete in the female classification remain controversial. The most common cause of menstrual disorders in female athletes, however, is probably an acquired functional hypothalamic disturbance due to energy deficiency in relation to energy expenditure, which could lead to low bone mineral density and increased risk of injury. This condition is particularly common in endurance and esthetic sports, where a lean body composition is considered an advantage for physical performance. It is important to carefully evaluate endocrine disturbances and menstrual disorders in athletes since the management should be specific according to the underlying cause.

WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease

2021 ◽  
pp. 1-9
Author(s):  
Maria T.M. Ferrari ◽  
Andreia Watanabe ◽  
Thatiane E. da Silva ◽  
Nathalia L. Gomes ◽  
Rafael L. Batista ◽  
...  
Keyword(s):  
Kidney Development ◽  
Wilms Tumor ◽  
Genetic Diagnosis ◽  
Germ Cell Tumors ◽  
Disorders Of Sex Development ◽  
Medical Attention ◽  
Primary Amenorrhea ◽  
Normal Female ◽  
Sex Development ◽  
Pathogenic Variants

Wilms’ tumor suppressor gene 1 (<i>WT1</i>) plays an essential role in urogenital and kidney development. Heterozygous germline pathogenic allelic variants of <i>WT1</i> have been classically associated with Denys–Drash syndrome (DDS) and Frasier syndrome (FS). Usually, exonic pathogenic missense variants in the zinc finger region are the cause of DDS, whereas pathogenic variants affecting the canonic donor lysine-threonine-serine splice site in intron 9 cause FS. Phenotypic overlap between <i>WT1</i> disorders has been frequently observed. New <i>WT1</i> variant-associated phenotypes, such as 46,XX testicular/ovarian-testicular disorders of sex development (DSD) and primary ovarian insufficiency, have been reported. In this report, we describe the phenotypes and genotypes of 7 Brazilian patients with pathogenic <i>WT1</i> variants. The molecular study involved Sanger sequencing and massively parallel targeted sequencing using a DSD-associated gene panel. Six patients (5 with a 46,XY karyotype and 1 with a 46,XX karyotype) were initially evaluated for atypical genitalia, and a 46,XY patient with normal female genitalia sought medical attention for primary amenorrhea. Germ cell tumors were identified in 2 patients, both with variants affecting alternative splicing of <i>WT1</i> between exons 9 and 10. Two pathogenic missense <i>WT1</i> variants were identified in two 46,XY individuals with Wilms’ tumors; both patients were &#x3c;1 year of age at the time of diagnosis. A novel <i>WT1</i> variant<i>,</i> c.1453_1456 (p.Arg485Glyfs*14), was identified in a 46,XX patient with testicular DSD. Nephrotic proteinuria was diagnosed in all patients, including 3 who underwent renal transplantation after progressing to end-stage kidney disease. The expanding phenotypic spectrum associated with <i>WT1</i> variants in XY and XX individuals confirms their pivotal role in gonadal and renal development as well as in tumorigenesis, emphasizing the clinical implications of these variants in genetic diagnosis.

scholarly journals Comprehensive Transcriptome Analysis of Hypothalamus Reveals Genes Associated With Disorders of Sex Development in Pigs

2020 ◽  
Author(s):  
Shuwen Tan ◽  
Yi Zhou ◽  
Haiquan Zhao ◽  
Jinhua Wu ◽  
Hui Yu ◽  
...  
Keyword(s):  
Expression Profiles ◽  
Disorders Of Sex Development ◽  
External Genitalia ◽  
Rna Isolation ◽  
Functional Enrichment ◽  
Regulation Mechanism ◽  
Normal Female ◽  
Sex Development ◽  
Mirna Expression Profiles ◽  
Hormone Biosynthesis

Abstract Background Disorders of sex development (DSD) is a chronic autoimmune disease characterized by systemic inflammation, pathological osteogenesis, and endocrine abnormality. However, its genetic etiology remains mostly unknown. In addition, little research focuses on the regulation mechanism from the view of transcriptomics in the hypothalamic-pituitary-gonadal axis (HPGA). The hypothalamus is the integrated center of the HPGA mediating neural, hormonal, and environmental stimulus to sex development. Methods Three XX-DSD (SRY-negative) pig (DSD) and three NF pigs (five months old, 40 kg ± 5 kg) were selected by external genitalia observation and sex determining region Y gene (SRY) detection. The hypothalamus were sampled for RNA isolation, and the mRNA, lncRNA and miRNA expression profiles were analyzed by sequencing. Results A total of 1,258 lncRNAs, 1,086 mRNAs, and 61 microRNAs were found to differentially express in XX-DSD pigs compared with normal female pigs. Many genes in hormone biosynthesis and secretion pathway are significantly up-regulated, and the up-regulation of GNRH1, KISS1 and AVP may be the candidate genes leading the abnormal secretion of GnRH. Next, we predicted the lncRNA-miRNA-mRNA co-expression triplets and constructed three competing endogenous RNA (ceRNA) potentially associated with DSD. Functional enrichment suggested TCONS_00340886, TCONS_00000204 and miR-181a were related to GnRH secretion. Conclusions Our research revealed the first transcriptomic profile in the hypothalamus of XX-DSD pigs and provided new insight in coding and non-coding RNAs that may be associated with DSD in pigs.

scholarly journals Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility

2019 ◽  
Vol 4 (2) ◽  
Author(s):  
Mei Tik Leung ◽  
Hoi Ning Cheung ◽  
Yan Ping Iu ◽  
Cheung Hei Choi ◽  
Sau Cheung Tiu ◽  
...  
Keyword(s):  
Pubertal Development ◽  
Cytochrome B5 ◽  
Disorders Of Sex Development ◽  
Normal Female ◽  
Lyase Deficiency ◽  
Sex Development ◽  
Spontaneous Pregnancy ◽  
Healthy Female ◽  
Cytochrome P450 Oxidoreductase ◽  
Microsomal Cytochrome B5

Abstract Isolated 17,20-lyase deficiency may be caused by mutations in the CYP17A1 (coding for cytochrome P450c17), POR (coding for cytochrome P450 oxidoreductase) and CYB5A (coding for microsomal cytochrome b5) genes. Of these, mutations in the CYB5A gene have thus far only been described in genetic males who presented with methemoglobinemia and 46,XY disorders of sex development (DSD) due to 17,20-lyase deficiency. A 24-year-old Chinese woman presented to the hematology outpatient clinic with purplish discoloration of fingers, toes, and lips since childhood. Investigations confirmed methemoglobinemia. A homozygous c.105C&gt;G (p.Tyr35Ter) nonsense mutation was detected in the CYB5A gene. Hormonal studies showed isolated 17,20-lyase deficiency. Interestingly, she had a completely normal female phenotype with no DSD, normal pubertal development, and spontaneous pregnancy giving birth uneventfully to a healthy female infant. The sex hormone-related features of genetic females with 17,20-lyase deficiency due to cytochrome b5 gene mutation appear to differ from that of females with 17,20-lyase deficiency caused by other genetic defects who presented with hypergonadotropic hypogonadism and infertility and differ from genetic males with the same mutation.

Securing Cisgendered Futures: Intersex Management under the “Disorders of Sex Development” Treatment Model

Hypatia ◽  
2019 ◽  
Vol 34 (4) ◽  
pp. 690-712 ◽  
Author(s):  
Catherine Clune‐Taylor
Keyword(s):  
Organization Theory ◽  
Steroid Hormone ◽  
Disorders Of Sex Development ◽  
Gender Development ◽  
Treatment Model ◽  
Adrenal Hyperplasia ◽  
Brain Organization ◽  
Sex Development ◽  
Sex Assignment ◽  
Sexual Characteristics

In this critical, feminist account of the management of intersex conditions under 2006's controversial “Disorders of Sex Development” (DSD) treatment model, I argue that like the “Optimal Gender of Rearing” (OGR) treatment model it replaced, DSD aims at securing a cisgendered future for the intersex patient, referring to a normalized trajectory of development across the lifespan in which multiple sexed, gendered, and sexual characteristics remain in “coherent” alignment. I argue this by critically analyzing two ways that intersex management has changed between OGR and DSD: 1) regarding sex‐assignment recommendations for three patient populations and, 2) with the prenatal treatment of pregnant individuals at risk of conceiving a fetus with congenital adrenal hyperplasia with the steroid hormone dexamethasone. I conclude that like OGR before it, DSD also unjustifiably presumes that typical genitalia are necessary for cisgendered development. However, unlike OGR, it appeals to the empirically inadequate, theoretically suspect, and biologically determinist model of gender development known as brain‐organization theory. Given this, I conclude that the treatment of intersex people under DSD continues to be driven by problematically heterosexist and transphobic assumptions regarding the value and normalcy of cisgendered life, while practically and discursively constituting it as such.

scholarly journals Hetero sexual precocious puberty: Case report and literature review

2016 ◽  
Vol 4 (1) ◽  
pp. 12
Author(s):  
Zujaja Hina Haroon ◽  
Aamir Ijaz ◽  
Muhammad Asad Haroon ◽  
Shahid Ahmed ◽  
Muhammad Amjad Pervez ◽  
...  
Keyword(s):  
Precocious Puberty ◽  
Clinical Approach ◽  
Adrenal Hyperplasia ◽  
Rare Presentation ◽  
Secondary Sexual Characteristics ◽  
Sex Development ◽  
Serum Chloride ◽  
Sexual Characteristics ◽  
History Of ◽  
Current Report

Congenital adrenal hyperplasia (CAH) is the most frequent disorder of sex development (DSD). It follows variable clinical course.We present a rare case of CAH that remained clinical enigma. A 6-year-old boy presented with increased pigmentation, deepeningof voice and appearance of male secondary sexual characteristics. There was history of frequent episodes of ill health withcough, fever, diarrhea and off and on vomiting. Laboratory workup revealed Serum Sodium 138 mmol/L (Ref Values: 135-145), Serum Potassium 4.1 mmol/L (Ref Values: 3.5-5.0), Serum Chloride 101 mmol/L (Ref Values: 97-106). Hormonal profilerevealed serum 17-OH Progesterone 85.9 nmol/L (Ref Values: 8.0), DHEA-S 861.9 μg/dl (Ref Values: 125-619), Testosterone 23.2 nmol/L (Ref Values: 0.1-2.4), Cortisol 563 nmol/L (Ref Values: 138-690), ACTH 1,152 pg/ml (Ref Values: 10-85), PlasmaActive Renin Mass Conc 45 μIU/ (Ref Values: 8-35 μIU/L), Plasma Aldosterone 115 pmol/L (Ref Values: 140-2,240). X-raybone age = 12 Y ± 6 m depicting precocious puberty. But USG abdomen and pelvis showed small uterus (28 mm × 13 mm× 22 mm) and karyotype revealed 46 XX genotype. Based on typical findings, a diagnosis of CAH with heterosexual precociouspuberty was established. Patient responded well to tablet Hydrocortisone 20 mg 1/2 BD and Mineralocorticoid (Florinef) Tablets 0.1 mg OD. The aim of current report is to revisit clinical approach to DSD with special emphasis to rare presentation of CAHwith heterosexual precocious puberty.

scholarly journals Multifunctional role of steroidogenic factor 1 and disorders of sex development

2011 ◽  
Vol 55 (8) ◽  
pp. 607-612 ◽  
Author(s):  
Maricilda Palandi de Mello ◽  
Emerson Salvador de Souza França ◽  
Helena Campos Fabbri ◽  
Andréa Trevas Maciel-Guerra ◽  
Gil Guerra-Júnior
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Gonadal Differentiation ◽  
Steroidogenic Factor 1 ◽  
Functional Roles ◽  
Secondary Sexual Characteristics ◽  
Delayed Onset ◽  
Sex Development ◽  
Sexual Characteristics

Disorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1.

Diagnostic approach to causes of spinal pain

2018 ◽  
pp. 66-70
Author(s):  
F. D. Nasirova
Keyword(s):  
Spinal Pain ◽  
Rapid Loss ◽  
Loss Of Weight ◽  
History Of ◽  
Radiologic Investigation ◽  
Males And Females ◽  
Serious Disease ◽  
Pain At Rest ◽  
Oncologic Diseases ◽  
Selection Of

Causes of spinal pain are extremely varying. Sex composition of patients referring with spinal pain at the age of 16 to 35 was 35% and 65% for males and females, respectively. Peak number of complaints was observed in 30-40 years age group of highest work ability. The followings should be considered as precautions in spinal pain: onset of pain at the age of 20 and after 50, family history of oncologic diseases, walking disorders or dysfunctions of sphincters, numbness in extremities, general malaise and rapid loss of weight, pain at rest and primarily at night, as these conditions may be a warning of underlying serious disease. Selection of algorithm for radiologic investigation is decided by the treating physician.

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