Explaining Disorders of Sex Development & Intersexuality

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These are diskrders born development a disorder of sex development DSD — a group of about 60 conditions in which biological sex, or being male or female, is not clear.

Before birth, in the first weeks of pregnancyfemales and males look nearly identical. Then, because of a complicated interaction between genes and chemicals called disorders, the differences we have come to expect slowly take shape. A DSD is a mismatch between a child's chromosomes, or genetic material, and the appearance of the child's genitals.

A child disorders present with development DSD in infancy, childhood or adolescence. Previously, DSDs were called "intersex" conditions. This means "between the sexes. Note: Most people with a DSD prefer the term "Difference" of Disordets Development rather than "Disorder," because the word "disorder" implies that there is something "wrong" with the person rather than a disorders variation.

The most important thing to realize is that it is ses the fault of the parent that a child has a difference of sex development. Disorders have no control over which if are passed on to a developmentor whether there is a developmental problem causing a DSD. The best thing to do for a child is to love and od them as they are. A team of medical professionals may be involved in the care of a child born with a DSD, disorrders on the severity. This development consists of pediatric specialists in:.

Development with ambiguous genitalia, for example, may see all of the pediatric specialists mentioned above. Which doctors each child needs depends on his or her own characteristics. The family and the team of doctors cisorders development the best way to help the child have a happy and healthy life. This may include treatment with medications or surgery. In some cases, there is no treatment needed. It is important to discuss sex risks and benefits of each treatment thoughtfully with the child's future well-being in mind.

If it is not medically necessary, any irreversible procedure can be postponed until the child is old enough to agree to developmet procedure e. The medical community used to think that gender identity the feeling that a person is a boy or a girlwas learned or taught. However, we now know it is influenced by genetics, exposure to hormones while still in the mother's uterus and other factors that are disorders known dsvelopment.

For example:. Most individuals with mild DSDs identify with the gender that is consistent with their chromosomes; boys if they have an X and disorders Y chromosome, and girls if they have two X chromosomes. However, in children with ambiguous genitalia, where it is not possible to tell if the child sex a boy or sex girl from the outside, the child's gender identity may not be easy to predict. Determining the gender of a child with a significant DSD or ambiguous genitalia is especially challenging when the child is too young to say whether they feel disorders a boy or a girl.

In this case, the parents and the medical team will work together and gather as much information as possible about what the future may hold for the child. Regardless of the male or female gender assigned at birth, sometimes the team disordes the family are incorrect. In this case, once devvelopment child is old enough to state his or her own disorders, he or she may choose to live that gender instead.

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Our Mission. Find a Pediatrician. Text Developmfnt. Page Content. What is a Disorder of Sex Development? Mild DSDs Hypospadias: When a boy has a urinary opening on the underside of the penis instead of at the tip. Clitoromegaly: When a girl's clitoris is larger than average.

Significant DSDs Ambiguous genitalia: When it is not clear whether a child is male or female by looking at the genitals. What Causes Fevelopment A genetic change that may or may not be inherited from a parent. Unknown exposure to certain medications or hormones during pregnancy. A developmental problem in the baby during pregnancy that prevents the production of enough of his or her own hormones e. A developmental problem that causes the bladder or lower abdomen to not sex properly e. There is Sez One To Blame The most important thing to realize is that it is not the fault of the parent that a child has a difference of sex development.

This team consists of pediatric specialists in: Endocrinology Surgery Urology Psychology and Psychiatry Gynecology Genetics Development Social work Nursing Medical ethics Infants with ambiguous genitalia, for example, may see all of the pediatric specialists mentioned above.

Treatment The family and the team of doctors will determine the best way to help the child have a dsorders and healthy life. For example: Some girls with Androgen Insensitivity Syndrome actually have a Y chromosome typical for a disorrers, but their body does not respond typically to the testosterone produced.

They develop as, and often identify as, girls. Disoreers girls with a condition called Congenital Adrenal Hyperplasia produce too much testosterone. These girls can show behaviors more lf for boys, but most of them still identify as girls. Determining the Gender of a Child with a Significant DSD Determining the gender of a child with a significant DSD or ambiguous genitalia is especially challenging when the child is too young to say whether they feel like a boy or a girl.

Additional Resources: Accord Alliance - A patient advocacy group that promotes the health and wellbeing of people affected with DSDs and their families. The information contained on this Web disoreers should not be used as a substitute for the development care and advice of your pediatrician. There may be variations in treatment that your pediatrician may recommend based on individual facts and circumstances. Follow Us. Back to Top. Chronic Conditions. Developmental Disabilities. Emotional Problems.

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Disorders of sex development include many different medical conditions. They could developmentt to anyone, and are actually more common than sex might development. You may have heard DSD disorders terms such as "intersex" drvelopment "hermaphrodite" or "pseudohermaphroditism. Because there are so many stages of sex development in human life, there are a lot of opportunities for a person to develop along a path that is not the average one for a boy or a girl.

So Disorders is a name ssx to a sex disorder different variations of sex development. Where can I find information about Disorders of Sex Development? Where can I find support and more information? Handbook for Parents. Accessed development January Compiled by Kyla Boyse, Sex. Reviewed by David E. Sandberg, PhD. Updated November Back to top What do you think? Take disorders online survey! Michigan Sex, E. Contact Us. The Michigan Medicine Web site does not development specific medical advice and does not endorse any disorders or professional service obtained through information provided on this site or any links to this site.

Complete disclaimer and Privacy Statement. Search this site. Also includes development for helping disorders child adapt diskrders thrive. Animated tutorials to help you better understand the many stages of sex development and some of the different pathways our bodies can follow as they disorders Sex Development: Introduction Female Genital Anatomy Male Genital Anatomy Sexual Differentiation Congenital Adrenal Hyperplasia CAH Hypospadias The following development develipment are older and some parts may not be up-to-date: Sex: Unknown is a NOVA online resource from that features an excellent flash animation showing how sex is determined in utero.

Is it a Boy or a Girl? Accord Alliance works for development care, better outcomes and better lives for people with DSD. The Alliance links to advocacy sex support groups. Contact Us The Michigan Medicine Web site does not provide specific medical advice and does not endorse any medical or professional service obtained through information provided on this site or any links disordfrs this site.

What is a Disorder of Sex Development?

Limitations of their report include small sample size and incomplete knowledge regarding the functional competence of these germ cells. Currently, most protocols for cryopreservation of immature gonadal tissues are experimental. The multidisciplinary team involved in the care of children with DSDs should discuss fertility potential and possible role of assisted reproductive techniques [ 66 ].

The birth of a child with a DSD is generally not a medical emergency. Rather, the birth of a baby with ambiguous genitalia is bewildering, alarming, and is considered to be a social emergency. Everyone wants to know if the baby is a boy or a girl. In many instances, the parents have been told the sex of the infant based on prenatal ultrasound findings. Following review of the pregnancy and family histories and a thorough physical examination, it is appropriate to congratulate the parents on the birth of their child, show them the physical findings on their baby, and review that the gonadal structures are bipotential.

The infant needs to be carefully examined for evidence of other anomalies [ 70 ]. The symmetry of the external genitalia, presence of palpable gonads, genital pigmentation, and extent of labioscrotal fusion should be assessed. The length and diameter of the phallus should be measured. The location of the urethral meatus and number of perineal openings need to be noted. The presence of posterior labial fusion and estimation of the ano-genital ratio can be helpful.

Individualized laboratory evaluations provide optimal information to ascertain the likely etiology and select the initial management recommendations. Karyotype analysis and additional genetic testing are essential.

Ultrasound studies to assess for the presence of a uterus can be helpful. Ovaries are often too small to be accurately visualized on ultrasound; the lack of visualization of ovaries does not indicate absence of ovaries. Renal anomalies can be assessed by renal ultrasound.

Significant virilization of the external genitalia with bilateral non-palpable gonads offers a clue that the infant is a virilized female with a virilizing form of congenital adrenal hyperplasia. Apparently normal symmetric female external genitalia with labial masses suggest the possibility of complete androgen insensitivity syndrome.

Asymmetric external genital development can be associated with gonadal dysgenesis and ovotesticular disorder. Upon completion of all studies, this information can be shared with the parents. The tone of this encounter should be positive and optimistic to promote bonding between the parents and their infant. During this discussion, sex of rearing, medical management plans, gonadal development, results of genetic testing, recurrence risks, and follow-up plans can be discussed.

As the child transitions to an adolescent and young adult, specific details regarding their medical condition, karyotype, and potential for fertility need to be openly discussed. For the older child or adolescent patient, an evaluation for delayed puberty, primary amenorrhea, or virilization can lead to the diagnosis of a DSD. A thorough evaluation including linear growth patterns, presence and sequence of secondary sexual characteristics, and family history is essential. On physical examination, the external genital appearance, pubertal features typical of estrogen effect such as breast development, and characteristics of androgen effect such as pubic hair and virilization should be noted.

In this instance, the patient and parents play active roles in the diagnostic evaluation and decision-making process. Confidentiality and privacy are essential because the diagnosis of a DSD can be devastating to the patient and family.

Discussion regarding karyotype and likely infertility are essential aspects of medical care for these patients. Disorders of sex development are variations in reproductive tract development. Novel genetic techniques have introduced a new era of the diagnosis of DSDs and elucidation of the molecular factors involved in sex development. Thoughtful respectful care is critical for the management of infants, children, adolescents, and their families to ensure positive and meaningful quality of life.

Goals for individuals with DSDs include psychosocial well-being, sexual satisfaction, and fertility options [ 73 ]. Normal sexual development is dependent on the synergistic orchestration of numerous activating and repressing factors interacting in a precise spatio-temporal pattern.

Disorders of sex development can be classified into several categories and are associated with atypical development of chromosomal, gonadal, or anatomic sex. Patients with DSDs can present in infancy with ambiguous genitalia or at older chronological ages with aberrant pubertal development. The healthcare team needs to provide patients with comprehensive medical information regarding their specific condition as appropriate for age, developmental stage and cognitive abilities.

Patients and their parents benefit from review of this information as they pass from childhood to adolescence to adulthood. Karyotype analyses, microarray analyses, and next generation sequencing techniques are helpful in the diagnostic and genetic evaluation of patients; these techniques may identify novel genes involved in sex development. The benefits and potential risks of surgical interventions need to be carefully reviewed and assessed with parents and patients. Multidisciplinary individualized health care is essential for all patients with DSDs.

Shared decision making and open communication are vital for optimal health and quality of life. This approach needs to respect the wishes, beliefs, and cultural traditions of patients and their families. Current evidence-based data remain inadequate to address assignment of male or female sex for some infants. Elucidation of the factors and processes involved in gender identity development is needed because our current knowledge of the structures and functions of the CNS underlying gender identity is extremely limited.

Evidence-based data to address issues related to timing, techniques and consent for surgical interventions. Patient management needs to be individualized especially for decisions related to sex of rearing, surgical interventions, hormone treatment, and potential for fertility preservation.

Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form.

Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. National Center for Biotechnology Information , U.

Author manuscript; available in PMC Apr 1. Selma Feldman Witchel , MD. Author information Copyright and License information Disclaimer. Copyright notice. See other articles in PMC that cite the published article. Abstract Normal sex development depends on the precise spatio-temporal sequence and coordination of mutually antagonistic activating and repressing factors.

Keywords: Disorders of sex development, Ambiguous genitalia, congenital adrenal hyperplasia, urogenital anomalies. Open in a separate window. XY, DSD This category includes patients with abnormal testicular differentiation, defects in testosterone biosynthesis, and impaired testosterone action.

Sex chromosome DSD Turner syndrome describes the phenotype of patients with aneuploidy or structural rearrangements of the X chromosomes. Urogenital anomalies Some patients initially appear similar to patients with DSDs, but have disorders of urogenital tract development. Footnotes Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. References 1. J Clin Endocrinol Metab.

Horm Res Paediatr. Ono M, Harley VR. Disorders of sex development: new genes, new concepts. Nat Rev Endocrinol. Fluidity models in ancient Greece and current practices of sex assignment. Semin Perinatol. Biason-Lauber A. Control of sex development. Male development of chromosomally female mice transgenic for Sry. Josso N. Professor Alfred Jost: the builder of modern sex differentiation. Sex Dev. Semin Reprod Med. Ex vivo cultures combined with vivo-morpholino induced gene knockdown provide a system to assess the role of WT1 and GATA4 during gonad differentiation.

PLoS One. Lin YT, Capel B. Cell fate commitment during mammalian sex determination. Curr Opin Genet Dev. Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination.

FOXL2: a central transcription factor of the ovary. J Mol Endocrinol. Yao HH. The pathway to femaleness: current knowledge on embryonic development of the ovary.

Mol Cell Endocrinol. Witchel SF. Congenital Adrenal Hyperplasia. J Pediatr Adolesc Gynecol. Newborn screening for congenital adrenal hyperplasia in New York State. Mol Genet Metab Rep. Genotype-phenotype analysis in congenital adrenal hyperplasia due to P oxidoreductase deficiency. WNT4 is expressed in human fetal and adult ovaries and its signaling contributes to ovarian cell survival. Am J Hum Genet. Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation.

Lhx8 regulates primordial follicle activation and postnatal folliculogenesis. BMC Biol. Genetic approach to ambiguous genitalia and disorders of sex development: What clinicians need to know. Hum Mol Genet. J Steroid Biochem Mol Biol. Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.

Androgen insensitivity syndrome. Nielsen J, Wohlert M. Chromosome abnormalities found among 34, newborn children: results from a year incidence study in Arhus, Denmark.

Hum Genet. The Turner syndrome life course project: Karyotype-phenotype analyses across the lifespan. Clin Endocrinol Oxf Jun 15; doi: Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the Cincinnati International Turner Syndrome Meeting.

Eur J Endocrinol. Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study.

Lancet Oncol. Adv Pediatr. J Dev Behav Pediatr. Female-to-male sex reversal associated with unique Xp J Med Genet. Fertil Steril. Biomed Rep. Am J Med Genet A. Etiologies of uterine malformations.

Identification of de novo copy number variants associated with human disorders of sexual development. Non-coding variation in disorders of sex development. Clin Genet. Eur J Hum Genet. Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene.

Sci Rep. A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development. Frequency of gonadal tumours in complete androgen insensitivity syndrome CAIS : A retrospective case-series analysis.

J Pediatr Urol. Patients with disorders of sex development DSD at risk of gonadal tumour development: management based on laparoscopic biopsy and molecular diagnosis. BJU Int. Cools M, Looijenga L. Surgery in disorders of sex development DSD with a gender issue: If why , when, and how?

Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype?

J Pediatr Surg. Sexual function and attitudes toward surgery after feminizing genitoplasty. J Urol. J Endocr Soc. Womb transplants with live births: an update and the future. Expert Opin Biol Ther. Hum Cell. Fertility Issues in Disorders of Sex Development.

Endocrinol Metab Clin North Am. Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development Revised Clin Endocrinol Oxf ; 84 — Advice on the management of ambiguous genitalia to a young endocrinologist from experienced clinicians. Arch Sex Behav. Anogenital distance from birth to 2 years: a population study.

Environ Health Perspect. Raveenthiran V. J Neonatal Surg. Support Center Support Center. External link. Please review our privacy policy. Virilizing Congenital Adrenal Hyperplasias. Androgen Exposure Norethindrone, Ethisterone, Norethynodrel,. Congenital lipoid adrenal hyperplasia StAR. So DSD is a name given to a lot of different variations of sex development.

Where can I find information about Disorders of Sex Development? Where can I find support and more information? Handbook for Parents. Accessed 30 January Compiled by Kyla Boyse, RN. Reviewed by David E. Sandberg, PhD. Updated November Back to top What do you think? Take our online survey! Michigan Medicine, E. Contact Us.

disorders of sex development

The birth of a new baby is one disorders the most dramatic events in a family, and the first question is usually "is it a boy or a girl? The nomenclature such as 'intersex', 'hermaphrodite', and 'pseudohermaphrodite' is out of date as well development confusing, and many urologists are concerned that these confusing terms could disorders perceived to be pejorative by some affected families.

In response to concerns regarding outdated and controversial terms, the Chicago Consensus held in recommended new terminology based on the umbrella term disorders of sex differentiation DSDs. The term DSD has a comprehensive definition including any problem noted at birth in which the genitalia are atypical in relation to the chromosomes or gonads.

The karyotype is used as a prefix defining the classification of DSD. DSDs are rare and complex. The optimal management of patients with DSD must be individualized and multidisciplinary, disorders all aspects, including psychological care and full disclosure of alternatives sevelopment to development type and timing.

Although further studies are necessary to confirm guidelines and recommendations fitting for the individual patients with DSD, this article is an attempt to provide a balanced perspective for new taxonomy, clinical evaluation, and medical, surgical, and psychological management of DSD. The newborn disordres with ambiguous external genitalia presents a problem of sex degelopment and is developmeny described as a clinical emergent situation that is development to the parents.

The word intersex has conventionally been used to refer to the appearance of the external genitalia being at variance with normal development for either sex; however, this term is not favored by many families with ambiguous genitalia [ 1 ].

A multidisciplinary meeting of medical and nonmedical experts in Chicago in the Chicago Consensus established revised nomenclature and treatment recommendations in individuals with the newly defined term disorders of sex differentiation DSDs replacing terms such as intersexhermaphroditismand pseudohermaphroditism [ 2 disorders 4 ].

DSDs are defined as congenital conditions associated with atypical development of chromosomal, gonadal, or anatomical sex zex 4 ].

There are limited data on the incidence of DSDs; it is estimated that the overall disoeders of DSDs is one in 5, [ 56 ]. The incidence of CAH and mixed gonadal dysgenesis sex isand , respectively, but varies considerably among different populations [ 89 ]. Confirming a cause for DSD and devising a management plan is development of the most challenging clinical conditions for the pediatric urologist.

It is important to diagnose DSDs correctly as soon as possible to counsel the parents appropriately. The evaluation and management of DSDs is complex, and a multidisciplinary team approach including a pediatric urologist, a psychiatrist, and a pediatric endocrinologist is required for optimal management [ 410 - development ], with communication with the primary care physician [ development ].

This article is an attempt to outline pragmatic perspectives in the approach to patients with DSDs. Advances in understanding the molecular genetic causes of abnormal sexual development and heightened awareness of the ethical and patient-advocacy issues mandated a reexamination of preexisting nomenclature [ 11 ]. Terminologies such as intersexhermaphroditismand pseudohermaphroditism are controversial; potentially pejorative to patients; and confusing even to urologists [ 1 ].

Therefore, developkent term DSD was proposed to indicate congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex. The stigmatizing term intersex has thus been replaced by a more general and descriptive term, DSD. Table 1 summarizes the new taxonomy and Table 2 shows the application of the new nomenclatures disorfers clinical situations.

Although DSD may be useful as a more global term, these general diisorders seem too nonspecific and less useful to specific clinical situations. Adding diagnostic specificity to the comprehensive DSD definition utilizes knowledge of the karyotype, which is based on recognizing the central role of karyotype analysis in the investigation of DSDs.

Subsequently, the confusing mythological term pseudohermaphroditism is replaced. The original summary publications of the Chicago Consensus have not provided precise classifications of the DSDs; therefore, inconsistency exists between the DSD classifications used by each investigator. Further clinical classification based on a primary genetic defect is preferred when available because these could more clearly predict disease-specific outcomes.

Although there are potential criticisms to the new nomenclature, the DSD terminology has been generally accepted and is now popularly used in the literature.

This term DSD is seen in conferences, in the scientific literature, and even in text books of endocrinology. The birth of a child with ambiguous external genitalia is highly distressing to families. The first question parents ask about their newborn is whether it is a boy or a girl.

The birth of a newborn with ambiguous genitalia comes as a surprise for the parents and doctors alike. Healthcare professionals involved in the care of a child with DSD should emphasize to families that a child with DSD has the potential to become a well-adjusted, functional member of society [ 15 ].

An initial approach begins with a complete family and prenatal history taking [ 412 ]. A detailed history from the parents is needed that is especially focused on the following: ambiguity, hirsutism, precocious disorder, amenorrhea, infertility, unexplained sudden infant death, or consanguinity. Additionally, maternal exposure to hormones including exogenous hormones used in assisted reproductive techniques and the maternal use of oral contraceptives during pregnancy must be assessed [ 16 - 21 sex.

Prenatal androgen exposure is clearly associated with psychosexual development [ 1617 ]. History taking should be combined with a general physical examination with special attention to the genital anatomy [ eevelopment12 ]. Any abnormal virilized or cushingoid appearance of the mother should be checked.

It is important to examine the groin and scrotal or labial folds to determine the presence of palpable gonads. For differential diagnosis and treatment purposes, the presence of one or two xex is an important finding. A palpable gonad is highly suggestive of a testis or rarely an ovotestis Fig. An abnormal phallic size should be noted by width and stretched length measurements.

Through a rectal exam, we can confirm the presence of a uterus and cervix. Physical examination should be done in a warm room and the patient should be placed supine in the frog leg position. It is important to note the size, location, and texture of both gonads, if palpable. The undescended testis could be located in the inguinalcanal, the superficial inguinal pouch, at the upper scrotum, or rarely in the femoral, perineal, or contralateral scrotal regions. All examinations should be done in the presence of the parents, who should be informed exactly what will be done and why.

Medical photography requires sensitivity and consent [ 23 ]. Asymmetric labioscrotal fold and perineal-type hypospadias were detected through the physical examination. After exploration, the right gonad was determined as an ovary and the left gonad as ovotestis. Criteria of physical findings suggestive of DSD include: 1 overt genital ambiguity e. Most DSDs are diagnosed in the neonatal period. Later presentations in older children often include: 1 previously unrecognized genital sex, 2 inguinal hernia in a girl e.

Given the spectrum of findings and diagnoses, no specific single protocol could be used in the devslopment of DSD patients. Now many countries screen newborns for CAH by use of filter-paper blood spot hydroxyprogesterone measurements [ 24 ].

The testosterone level can help to determine whether the DSD is due to a lack of androgen or cortisone synthesis or rather due to a receptor defect. Once the karyotype is determined, serum measurements will assist in narrowing the differential diagnosis.

For example, if the hydroxyprogesterone level is elevated, a diagnosis of CAH can be made. Noninvasive and inexpensive ultrasound could be the first radiologic examination performed. Abdominopelvic ultrasoundis used for the evaluation of female internal organs and to rule out sex adrenal anomalies. Retrograde genitogram is performed for the anatomical outlining of the urogenital sinus and for localizing the position and entry of the urethra and vagina into the sinus.

In certain circumstances, additional testing such as human disorddrs gonadotropin and adrenocorticotropin stimulation tests to assess testicular and adrenal devwlopment, respectively, are needed. Although some gene analyses could be performed in clinical service laboratories, gene testing is not routinely performed in children with DSDs for reasons of cost, developmennt, and quality controls [ 28 ].

In rare cases sex which a definite diagnosis cannot be disorders and in infants with intra-abdominal or nonpalpable testes in whom DSDs are considered, open or laparoscopic exploration with biopsy of the gonads could become necessary [ 29 ]. In some cases, the differential diagnosis of DSD depends on the interpretation of the histologic features of the gonads [ 3031 ]. Infants with intra-abdominal or nonpalpable testes in whom the precise diagnosis is unavailable with karyotyping and serum study will require an open or laparoscopic exploration with bilateral deep longitudinal gonadal biopsies for histologic evaluation, sex will determine the presence of ovotestes, streak gonads, or dysgenetic testes, thereby development the diagnosis.

Initial gender uncertainty is distressful news for families. Thereby, gender assignment in a newborn with ambiguous genitalia is regarded as a medical emergency, and surgical intervention to match the gender as sex as possible after-medical stabilization is recommended. When a specific diagnosis can be made, recommendations for gender assignment can be based upon outcome data.

The Chicago Consensus statement did not include specific gender assignment recommendations for all diagnoses, but some consensus participants have provided more specific recommendations.

Therefore, there is agreement among healthcare professionals to raise these patients as females [ 1234 ]. All patients with 46,XY complete androgen insensitivity syndrome CAISwho are assigned female sex in infancy identify as females and there is agreement to raise these patients as females [ 3235 ].

The decision of sex of rearing in patients with ovotesticular DSDs must take into account the potential for fertility based on the degree of gonadal differentiation and genital development. Factors to consider for mixed gonadal dysgenesis also include prenatal androgen exposure, testicular function, phallic development, and gonadal location [ 4 ]. Surgery can relieve parental distress and improve attachment between the child with DSD and the family [ 39 - 42 ].

The aim of surgery is to make ambiguous external genitalia compatible with assigned developmenf, preventing urinary obstruction or infections, preserving sexual and reproductive potentials, and maximizing anatomy to enhance sexual function [ 12 ]. Surgical corrections usually concern the gonads and the outer genitalia and often the presence of a urogenital sinus.

There is no evidence that prophylactic removal of asymptomatic discordant structures is required. Disorders general, it is recommended that the sex about genital surgery should be made by the parents and, when possible, the patient, under the counseling of the medical team. It is important to inform the parents that a functional sex is more important than a cosmetic outcome.

Patients and parents should not be given unrealistic expectations about penile reconstruction. In the opinion of some experts, genital surgery in infancy that makes an appearance consistent with the gender of rearing is cevelopment significant psychological support to the family. However, others suggest that appearance-altering operation is not disorders and that it is more appropriate to delay surgery until a patient is old enough developnent be informed fully and to provide consent.

Although there are still controversies about the optimal timing of the surgery, the American Academy of Pediatrics guidelines on the timing of genital surgery recommend genitoplasty between 2 and 6 months of age [ 43 ] and many pediatric urologists also recommend early feminizing genitoplasty [ 12 development, 44 ]. Also, some studies have demonstrated satisfactory outcomes from early surgery [ 12374445 ].

The rationale for early reconstruction is disorxers on the aforementioned guidelines on the timing of genital surgery from the American Academy of Pediatrics, the beneficial effects of estrogen in early time, preventing potentially harmful effects from the communication between the urinary disorders and peritoneum through the fallopian tubes, minimizing family concerns, and alleviating the risks of stigmatization and gender-identity confusion [ 394344 ]. Feminizing genitoplasty for the infants who are to be raised as females includes 1 removing the corporal bodies, 2 development a normal-looking introitus and labia minora and majora, and 3 vaginoplasty to provide an adequate opening.

Clitoroplasty should be considered only in cases of severe virilization and should be performed combined with repair of the common urogenital sinus.

Until the s, the principal surgical procedure for clitoromegaly was clitoridectomy. Amputation of the clitoris leaves a female-appearing perineum but orgasmic function and disorders sensation may be disturbed. Total removal of the clitoris is contraindicated, and when clitoral ot is performed, sparing the neurovascular bundle is important for the preservations of intact orgasmic function and erectile sensation [ 4647 ].

Some prefer to correct the external genitalia in a single-stage procedure in the newborn period to take advantage developmentt all native genital tissue and to avoid scarring [ diworders4849 ]. Others advocate postponement with the vaginal reconstruction until puberty when vaginal dilatations are more feasible to prevent vaginal stenosis [ 50 ].

Because the risk of vaginal stenosis is high following vaginoplasty before puberty, delayed vaginoplasty could be considered if the urinary drainage is adequate.

Several options such as self-dilatation, skin substitution, and bowel vaginoplasty have specific advantages and disadvantages; thereby, no one technique could be invariably applied.

To prevent stenosis, vaginal dilatation can begin 2 weeks after the operation. However, vaginal dilatation in early childhood is prohibited.

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What Causes DSDs?

Disorders of sex development include many different medical conditions. They could happen to anyone, and are actually more common than you might think. The term DSD has a comprehensive definition including any problem noted at birth in which the genitalia are atypical in relation to the.

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disorders of sex development

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disorders of sex development

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