Hermaphroditism: developmental features and diagnostics

The term "hermaphroditism" when applied to humans is considered outdated and stigmatizing: it doesn't reflect human biological reality and carries negative connotations. Since 2006, an international consensus has proposed using the term "differences/disorders of sex development" (DSDs)—congenital conditions in which the development of chromosomal, gonadal, or anatomical sex occurs atypically. This approach helps to more accurately and non-judgmentally describe diversity, rather than use labels. [1]

Today, two umbrella terms are used in parallel in clinical practice and public discourse: "differences in sex development" (emphasizing neutrality and dignity) and "disorders of sex development" (linked to medical classification and insurance codes). Guidelines emphasize that it is preferable to speak in a manner that is comfortable for the individual and their family; many prefer the term "intersex." [2]

An important part of this terminological shift is the abandonment of the terms "pseudohermaphroditism" and "true hermaphroditism." Instead, for rare combinations of testicular and ovarian tissue, the precise designation "ovotesticular state of sex development" is used; this is more accurate and medically informative.

Finally, international health and human rights organizations emphasize that "sex" (biological characteristics) is distinct from "gender" (social roles) and "gender identity" (internal experience). Intersex individuals may have biological characteristics at birth that do not strictly fit into the binary "male/female." This is not a "disease of the individual," but a spectrum of variations, some of which genuinely require medical attention. [4]

Table 1. How to speak correctly

An obsolete term	Modern replacement	Why change?
Hermaphroditism / hermaphrodite	Conditions of differences in sex development; intersex	Without stigma, more accurately describes the spectrum
Pseudohermaphroditism	Specific DSD category (eg, 46,XY with androgen variations)	Clinical precision
True hermaphroditism	Ovotesticular state of sex development	Precise nosology

What are these states: biology and spectra

"Conditions of differential sex development" refer to congenital variants in which the development of chromosomes, gonads (testicles or ovaries), or external/internal reproductive structures occurs atypically. This is not a single disease, but a broad umbrella of diagnoses with different genetics, hormonal backgrounds, and clinical manifestations—from minor structural features to significant combinations of traits. [5]

According to the international classification of groups, it is convenient to distinguish conditions with a 46,XX, 46,XY karyotype, and chromosomal variants (e.g., 45,X/46,XY). Each group has a list of causes, ranging from enzymatic features of hormone synthesis to impaired hormone sensitivity or embryonic development of the ducts and canals. This "skeleton" helps the physician develop a diagnostic logic. [6]

It's important to understand that the same group name can lead to very different outcomes in different people: for one, a painless ultrasound finding, while for another, it can require emergency care in the first hours of life. Therefore, the clinical focus has shifted from the "label" to an individual assessment of health, risks, and needs (urination, fertility, hormones, psychosocial support). [7]

Over the past 15-20 years, approaches have become noticeably more humane and interdisciplinary: teams include endocrinologists, pediatric urologists/gynecologists, geneticists, psychologists, medical ethicists, and, crucially, patients and their parents themselves as partners in decision-making. This is enshrined in recent reviews and consensus statements. [8]

Table 2. Large DSD groups (simplified)

Group	Examples of reasons	Possible manifestations
46,XX (developmental variations with a “female” karyotype)	Features of androgen synthesis before birth	Variations in the structure of the external genitalia, the issue of fertility
46,XY (variations with a "male" karyotype)	Androgen insensitivity, enzymatic features	A wide spectrum - from the outwardly "typical" to significant variations
Chromosomal variants	45,X/46,XY etc.	Combinations of gonadal features and structure

How it can manifest itself and when to be wary

Sometimes variations are immediately visible at birth in the structure of the external genitalia; in other cases, signs appear later—for example, delayed or unusual puberty, difficulties with fertility, menstruation, or hormonal balance in adulthood. Variability is high, so there is no universally "typical" scenario. [9]

Often, the first step is for a parent or the individual to ask, "Is this normal for my body?" At this stage, it is important for the medical team to be prepared to explain the variation and to distinguish between emergency conditions (for example, water-salt imbalances in some newborns) and situations where everything can be discussed calmly and a routine examination can be carried out. [10]

In adolescence, reasons for evaluation may include discrepancies in secondary sexual characteristics from expectations, pain, menstrual issues, varicocele, and self-perception issues. Careful, confidential communication and the elimination of stigma are critical here: this increases trust and the quality of diagnostic data. [11]

In adulthood, people often come to us with questions about fertility, erectile function/libido, cycles, bone mass, mood, and energy. Modern reviews emphasize that the goal is not to "fix" the body to a template, but to ensure health, functionality, and quality of life, taking into account the individual's values. [12]

Diagnostics: A step-by-step, no-hassle route

The process begins with a thorough clinical interview and examination, clarifying the family history, pregnancy and birth conditions, and assessing urination and overall well-being. Next comes basic laboratory tests: karyotype, sex hormone and precursor profile, and, if necessary, electrolytes and cortisol in newborns. This algorithm allows us to understand the "level" of variation—chromosomal, gonadal, or anatomical. [13]

Imaging is tailored to the specific needs of the patient: ultrasound of the pelvic organs/scrotum, and sometimes MRI to clarify internal structures and vessels. Genetic panels and sequencing are used if a specific molecular cause is suspected. The most important rule: do not rush into irreversible decisions until a reasonable amount of diagnostic workup has been completed, unless there is a health risk. [14]

A team approach is essential: an endocrinologist, a pediatric urologist/gynecologist, a clinical geneticist, a psychologist, and, if possible, a representative of a patient organization. The patient and parents (if a child) are included in the discussion of the goals and consequences of each step, which is clearly reflected in modern guidelines. [15]

A key change in recent years is respect for the right to informed participation and, where possible, deferring final decisions until the person is able to express their own preferences. This particularly applies to interventions that alter appearance or sensitivity. [16]

Table 3. Simplified diagnostic algorithm

Stage	What are we doing?	For what
1	Non-violent conversation, examination, anamnesis collection	Form a safe contact and hypothesis
2	Karyotype, hormonal profile	Determine the "level" of variation
3	Ultrasound/MRI as indicated	Clarify internal structures
4	Genetic testing if needed	Confirm the molecular cause
5	Team discussion with patient/family	Choose a plan without rushing

Treatment and support: what's really changing today

The first layer is non-pharmacological support: detailed information, psychological support, and connections with communities and patient groups. This reduces anxiety, strengthens a sense of control, and promotes informed decision-making. The 2020-2024 guidelines emphasize the value of shared decision-making and open communication. [17]

Hormone therapy is used when it is needed for health and well-being: to support puberty, bone health, energy, libido, menstrual cycle, or lack thereof—depending on the specific situation. Prescriptions are individualized and revised as a woman matures and her goals change. [18]

Surgical interventions are now considered cautiously and with a targeted approach. The 2020 consensus of pediatric urologists and endocrinologists emphasizes that non-emergency interventions should, whenever possible, be postponed until the patient is able to participate in decision-making; however, it is recognized that there are medical and functional indications for which postponement is not possible. The positions of professional societies emphasize respect for autonomy and minimizing irreversible interventions at an early age. [19]

Fertility is a separate issue. For some, monitoring and hormonal adjustments are sufficient, while others benefit from minimally invasive urological procedures, and still others benefit from assisted reproductive technologies. The goal is not to "normalize" appearance at any cost, but to preserve health and, where possible, reproductive potential, aligning steps with the priorities of the individual and family. [20]

Table 4. Management options (selected individually)

Direction	Examples	When appropriate
Psychological support	Individual/family therapy, self-help groups	At every stage of the journey
Hormonal therapy	Puberty induction, supportive regimens	Based on bone/well-being indications
Surgery	Limited spectrum for strict indications	In case of health threat, functional tasks, with the participation of the patient
Reproductive assistance	Minimally invasive procedures, ART	At will and according to indications

Ethical issues and patient rights

Professional societies emphasize the need for full, truthful reporting and the abandonment of secrecy practices that have historically caused harm. This includes transparency, careful documentation and education for families, as well as access to psychological support. This "open model" has been shown to improve quality of life. [21]

The debate over surgical timing continues. A number of authors and human rights organizations advocate for delaying irreversible interventions as much as possible, with exceptions for urgent medical situations. Articles in recent years have emphasized the need to include intersex people themselves in the development of standards. [22]

The World Health Organization and the Office of the United Nations High Commissioner for Human Rights (OHCHR) have enshrined the need to respect bodily integrity, non-discrimination, and access to stigma-free health care. This is becoming part of national clinical guidelines and educational programs. [23]

The bottom line for the practicing physician is simple: clinical literacy must go hand in hand with ethics—shared decisions, informed consent, a real opportunity to "change one's mind," and, in the case of children, consideration of the future interests of the adult the child will become. This is the modern standard. [24]

Life's journey: from childhood to adult service

The transition from pediatric to adult services is a vulnerable point. Research emphasizes the importance of a pre-planned pathway: who will manage hormones, who will help with fertility issues, sexual health, and psycho-emotional well-being. Such a "roadmap" reduces loss of follow-up and the risk of complications. [25]

During adolescence, regular visits are appropriate to discuss growth, bone density, mood, physical activity, sexual activity, and contraception (if relevant). The team should speak in simple, non-pressuring language, leaving space for private conversations without parents present—this builds trust. [26]

In adulthood, issues of hormones and reproduction are supplemented by career, partnership, parenthood (biological or alternative), sexual function, and body image. The goal of medicine is not to "prescribe once and for all," but to support you through various stages, taking into account changing goals. [27]

Partnerships with patient organizations and access to trusted sources of information reduce anxiety and feelings of isolation. This is especially important in countries where the topic is underrepresented and where people are exposed to myths online. [28]