Differences (Disorders) of sex development (DSDs) involve infants with ambiguous genitalia and indeterminate phenotypic sex.
Surgical genital reconstruction for DSDs in infants has shifted due to increased awareness of psychological and social implications, delaying early interventions in certain cases.
In 2006, Lawson Wilkins and European societies proposed changes to nomenclature and definitions of disorders.
The proposals aimed to update terminology to better reflect advances in understanding pathophysiology, while addressing patient needs and concerns sensitively.
Conditions can influence reproductive and sexual development results in non-binary sex characteristics beyond typical definitions.
Differences of Sex Development highlights diversity that moves away from Disorders of Sex Development.
Physicians accurately diagnose and advise parents on treatment options. Bipotential gonad differentiates into testes or ovaries at 6 to 8 weeks.
Epidemiology
CAH is the leading cause of DSDs, with incidence rates between 1 in 5,000 to 15,000. Highest frequency found in European Jewish, Hispanic, Slavic, Italian, and Alaskan Eskimos.
Children’s Hospital of Boston found DSDs in 50% of children with hypospadias and nonpalpable testes.
DSDs are often diagnosed at birth, while disorders in phenotypic males and females may delay.
MIS deficiency typically presents as a boy with unilateral hernia and impalpable gonad. Uterus, fallopian tubes, and normal wolffian structures observed during surgery.
Diagnosis of 46 XY females with androgen insensitivity occurs post-puberty.
Anatomy
Pathophysiology
Gonad type dictates internal duct differentiation and phenotypic sex outcome. Gender identity is shaped by phenotypic appearance, brain development, and environmental influences throughout life.
In fetal development’s second month, the Y chromosome’s genetic information directs the indifferent gonad to form testes.
Testis-determining factor is a 35-kilobase sequence in the Y chromosome’s sex-determining region.
Absence of testicular tissue leads to female internal and external sex development in the fetus.
Testicular tissue produces two critical substances essential for male internal ducts and external phenotype development.
Etiology
The causes of DSDs are:
Genetic Causes
Sex Chromosome Abnormalities
Single-Gene Mutations
SRY Mutations
Gonadal Development Defects
Hormonal Deficiencies and Insensitivities
Environmental and Maternal Factors
Genetics
Prognostic Factors
Salt-wasting CAH, the main cause of ambiguous genitalia, occurs in 75% of infants and is a true medical emergency.
Unrecognized hypotension may lead to vascular collapse. Male infants with this syndrome appear phenotypically normal.
Non-emergency DSD causes involve team-oriented treatment for infants with ambiguous genitalia.
Provide suitable medical support and counselling for therapy.
Management decisions require full information disclosure to the family and discussion with the multidisciplinary team.
Clinical History
Collect details including the chief complaint, prenatal and maternal, perinatal and neonatal, puberty and adolescent and family history to understand clinical history of patients.
Short stature, webbed neck, lymphedema at birth, tall stature, mild developmental delays
Differential Diagnoses
Androgen Insensitivity Syndrome
Congenital Adrenal Hyperplasia
Denys-Drash Syndrome
Hypospadias
Micropenis
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Assign gender based on anatomy and biology poses significant challenges in DSD management regarding individuals’ true gender identity.
Multidisciplinary teams should focus on providing individualized treatment for each unique patient.
Therapeutic approaches for DSDs differ significantly to generalize their management would be overly simplistic.
Post-diagnosis, the team must discuss potential sexual function, fertility, and cancer risks openly with the patient and family.
Patients with normal ovaries have normal reproductive potential, but 46, XY DSD cases require complex gender assignment based on penile length, androgen effects, and fertility.
Patient and parent dissatisfaction with information regarding their condition and management procedures is a prevalent issue.
Patients have the right to make informed decisions regarding their health and interventions.
The AMA endorses parents’ rights in informed decisions for their children, while advocating for children’s involvement and self-determination in their care when feasible.
CAH patients require glucocorticoid and mineralocorticoid replacement.
Sex hormone replacement with estrogen or testosterone is indicated for compromised gonadal function or discordant hormone production.
In the immediate assessment and stabilization phase, the goal is to identify life-threatening conditions and confirm diagnosis.
Pharmacologic therapy is effective in the treatment phase as it includes the use of glucocorticoids.
In supportive care and management phase, patients should receive required attention such as lifestyle modification and surgical interventional therapies.
The regular follow-up visits with the surgeon are scheduled to check the improvement of patients along with treatment response.
»
Home » CAD » Differences (Disorders) of Sex Development (DSDs)
Differences (Disorders) of Sex Development (DSDs)
Updated :
May 29, 2025
Differences (Disorders) of sex development (DSDs) involve infants with ambiguous genitalia and indeterminate phenotypic sex.
Surgical genital reconstruction for DSDs in infants has shifted due to increased awareness of psychological and social implications, delaying early interventions in certain cases.
In 2006, Lawson Wilkins and European societies proposed changes to nomenclature and definitions of disorders.
The proposals aimed to update terminology to better reflect advances in understanding pathophysiology, while addressing patient needs and concerns sensitively.
Conditions can influence reproductive and sexual development results in non-binary sex characteristics beyond typical definitions.
Differences of Sex Development highlights diversity that moves away from Disorders of Sex Development.
Physicians accurately diagnose and advise parents on treatment options. Bipotential gonad differentiates into testes or ovaries at 6 to 8 weeks.
CAH is the leading cause of DSDs, with incidence rates between 1 in 5,000 to 15,000. Highest frequency found in European Jewish, Hispanic, Slavic, Italian, and Alaskan Eskimos.
Children’s Hospital of Boston found DSDs in 50% of children with hypospadias and nonpalpable testes.
DSDs are often diagnosed at birth, while disorders in phenotypic males and females may delay.
MIS deficiency typically presents as a boy with unilateral hernia and impalpable gonad. Uterus, fallopian tubes, and normal wolffian structures observed during surgery.
Diagnosis of 46 XY females with androgen insensitivity occurs post-puberty.
Gonad type dictates internal duct differentiation and phenotypic sex outcome. Gender identity is shaped by phenotypic appearance, brain development, and environmental influences throughout life.
In fetal development’s second month, the Y chromosome’s genetic information directs the indifferent gonad to form testes.
Testis-determining factor is a 35-kilobase sequence in the Y chromosome’s sex-determining region.
Absence of testicular tissue leads to female internal and external sex development in the fetus.
Testicular tissue produces two critical substances essential for male internal ducts and external phenotype development.
The causes of DSDs are:
Genetic Causes
Sex Chromosome Abnormalities
Single-Gene Mutations
SRY Mutations
Gonadal Development Defects
Hormonal Deficiencies and Insensitivities
Environmental and Maternal Factors
Salt-wasting CAH, the main cause of ambiguous genitalia, occurs in 75% of infants and is a true medical emergency.
Unrecognized hypotension may lead to vascular collapse. Male infants with this syndrome appear phenotypically normal.
Non-emergency DSD causes involve team-oriented treatment for infants with ambiguous genitalia.
Provide suitable medical support and counselling for therapy.
Management decisions require full information disclosure to the family and discussion with the multidisciplinary team.
Collect details including the chief complaint, prenatal and maternal, perinatal and neonatal, puberty and adolescent and family history to understand clinical history of patients.
Short stature, webbed neck, lymphedema at birth, tall stature, mild developmental delays
Androgen Insensitivity Syndrome
Congenital Adrenal Hyperplasia
Denys-Drash Syndrome
Hypospadias
Micropenis
Assign gender based on anatomy and biology poses significant challenges in DSD management regarding individuals’ true gender identity.
Multidisciplinary teams should focus on providing individualized treatment for each unique patient.
Therapeutic approaches for DSDs differ significantly to generalize their management would be overly simplistic.
Post-diagnosis, the team must discuss potential sexual function, fertility, and cancer risks openly with the patient and family.
Patients with normal ovaries have normal reproductive potential, but 46, XY DSD cases require complex gender assignment based on penile length, androgen effects, and fertility.
Patient and parent dissatisfaction with information regarding their condition and management procedures is a prevalent issue.
Patients have the right to make informed decisions regarding their health and interventions.
The AMA endorses parents’ rights in informed decisions for their children, while advocating for children’s involvement and self-determination in their care when feasible.
CAH patients require glucocorticoid and mineralocorticoid replacement.
Sex hormone replacement with estrogen or testosterone is indicated for compromised gonadal function or discordant hormone production.
Pediatrics, General
Patients need lifelong hormone therapy or fertility counselling in form of structured and accessible medical plan.
Parental counselling should be given to help families understand and accept the condition.
Provide support groups for patients and caregivers to reduce stigma.
Ensure access to unisex restrooms for individuals who may feel uncomfortable with binary options.
Proper awareness about DSDs should be provided and its related causes with management strategies.
Appointments with surgeon and preventing recurrence of disorder is an ongoing life-long effort.
Pediatrics, General
Hydrocortisone:
Agents possess anti-inflammatory effects and patients with congenital adrenal hyperplasia need lifelong corticosteroid replacement therapy.
It controls the rate of protein synthesis to suppress migration of polymorphonuclear leukocytes.
Pediatrics, General
Surgical procedure of feminizing genitoplasty for virilized females includes urethra-vagina separation, vaginoplasty, labioplasty, and clitoroplasty.
Surgery for under virilized males includes gonadectomy procedure.
Pediatrics, General
In the immediate assessment and stabilization phase, the goal is to identify life-threatening conditions and confirm diagnosis.
Pharmacologic therapy is effective in the treatment phase as it includes the use of glucocorticoids.
In supportive care and management phase, patients should receive required attention such as lifestyle modification and surgical interventional therapies.
The regular follow-up visits with the surgeon are scheduled to check the improvement of patients along with treatment response.
Differences (Disorders) of sex development (DSDs) involve infants with ambiguous genitalia and indeterminate phenotypic sex.
Surgical genital reconstruction for DSDs in infants has shifted due to increased awareness of psychological and social implications, delaying early interventions in certain cases.
In 2006, Lawson Wilkins and European societies proposed changes to nomenclature and definitions of disorders.
The proposals aimed to update terminology to better reflect advances in understanding pathophysiology, while addressing patient needs and concerns sensitively.
Conditions can influence reproductive and sexual development results in non-binary sex characteristics beyond typical definitions.
Differences of Sex Development highlights diversity that moves away from Disorders of Sex Development.
Physicians accurately diagnose and advise parents on treatment options. Bipotential gonad differentiates into testes or ovaries at 6 to 8 weeks.
CAH is the leading cause of DSDs, with incidence rates between 1 in 5,000 to 15,000. Highest frequency found in European Jewish, Hispanic, Slavic, Italian, and Alaskan Eskimos.
Children’s Hospital of Boston found DSDs in 50% of children with hypospadias and nonpalpable testes.
DSDs are often diagnosed at birth, while disorders in phenotypic males and females may delay.
MIS deficiency typically presents as a boy with unilateral hernia and impalpable gonad. Uterus, fallopian tubes, and normal wolffian structures observed during surgery.
Diagnosis of 46 XY females with androgen insensitivity occurs post-puberty.
Gonad type dictates internal duct differentiation and phenotypic sex outcome. Gender identity is shaped by phenotypic appearance, brain development, and environmental influences throughout life.
In fetal development’s second month, the Y chromosome’s genetic information directs the indifferent gonad to form testes.
Testis-determining factor is a 35-kilobase sequence in the Y chromosome’s sex-determining region.
Absence of testicular tissue leads to female internal and external sex development in the fetus.
Testicular tissue produces two critical substances essential for male internal ducts and external phenotype development.
The causes of DSDs are:
Genetic Causes
Sex Chromosome Abnormalities
Single-Gene Mutations
SRY Mutations
Gonadal Development Defects
Hormonal Deficiencies and Insensitivities
Environmental and Maternal Factors
Salt-wasting CAH, the main cause of ambiguous genitalia, occurs in 75% of infants and is a true medical emergency.
Unrecognized hypotension may lead to vascular collapse. Male infants with this syndrome appear phenotypically normal.
Non-emergency DSD causes involve team-oriented treatment for infants with ambiguous genitalia.
Provide suitable medical support and counselling for therapy.
Management decisions require full information disclosure to the family and discussion with the multidisciplinary team.
Collect details including the chief complaint, prenatal and maternal, perinatal and neonatal, puberty and adolescent and family history to understand clinical history of patients.
Short stature, webbed neck, lymphedema at birth, tall stature, mild developmental delays
Androgen Insensitivity Syndrome
Congenital Adrenal Hyperplasia
Denys-Drash Syndrome
Hypospadias
Micropenis
Assign gender based on anatomy and biology poses significant challenges in DSD management regarding individuals’ true gender identity.
Multidisciplinary teams should focus on providing individualized treatment for each unique patient.
Therapeutic approaches for DSDs differ significantly to generalize their management would be overly simplistic.
Post-diagnosis, the team must discuss potential sexual function, fertility, and cancer risks openly with the patient and family.
Patients with normal ovaries have normal reproductive potential, but 46, XY DSD cases require complex gender assignment based on penile length, androgen effects, and fertility.
Patient and parent dissatisfaction with information regarding their condition and management procedures is a prevalent issue.
Patients have the right to make informed decisions regarding their health and interventions.
The AMA endorses parents’ rights in informed decisions for their children, while advocating for children’s involvement and self-determination in their care when feasible.
CAH patients require glucocorticoid and mineralocorticoid replacement.
Sex hormone replacement with estrogen or testosterone is indicated for compromised gonadal function or discordant hormone production.
Pediatrics, General
Patients need lifelong hormone therapy or fertility counselling in form of structured and accessible medical plan.
Parental counselling should be given to help families understand and accept the condition.
Provide support groups for patients and caregivers to reduce stigma.
Ensure access to unisex restrooms for individuals who may feel uncomfortable with binary options.
Proper awareness about DSDs should be provided and its related causes with management strategies.
Appointments with surgeon and preventing recurrence of disorder is an ongoing life-long effort.
Pediatrics, General
Hydrocortisone:
Agents possess anti-inflammatory effects and patients with congenital adrenal hyperplasia need lifelong corticosteroid replacement therapy.
It controls the rate of protein synthesis to suppress migration of polymorphonuclear leukocytes.
Pediatrics, General
Surgical procedure of feminizing genitoplasty for virilized females includes urethra-vagina separation, vaginoplasty, labioplasty, and clitoroplasty.
Surgery for under virilized males includes gonadectomy procedure.
Pediatrics, General
In the immediate assessment and stabilization phase, the goal is to identify life-threatening conditions and confirm diagnosis.
Pharmacologic therapy is effective in the treatment phase as it includes the use of glucocorticoids.
In supportive care and management phase, patients should receive required attention such as lifestyle modification and surgical interventional therapies.
The regular follow-up visits with the surgeon are scheduled to check the improvement of patients along with treatment response.
Both our subscription plans include Free CME/CPD AMA PRA Category 1 credits.
Digital Certificate PDF
On course completion, you will receive a full-sized presentation quality digital certificate.
medtigo Simulation
A dynamic medical simulation platform designed to train healthcare professionals and students to effectively run code situations through an immersive hands-on experience in a live, interactive 3D environment.
medtigo Points
medtigo points is our unique point redemption system created to award users for interacting on our site. These points can be redeemed for special discounts on the medtigo marketplace as well as towards the membership cost itself.
Community Forum post/reply = 5 points
*Redemption of points can occur only through the medtigo marketplace, courses, or simulation system. Money will not be credited to your bank account. 10 points = $1.
All Your Certificates in One Place
When you have your licenses, certificates and CMEs in one place, it's easier to track your career growth. You can easily share these with hospitals as well, using your medtigo app.
