Introduction

Pediatric and adolescent gynecology (PAG) is now a recognized subspecialty that encompasses a spectrum of conditions affecting gynecological health from birth through to adulthood. Serious and life-threatening diseases may be relatively rare, but problems such as atypical development of the genital tract are highly complex. The development of specialist centers is important for appropriate and timely referral. For conditions that affect fertility, sexuality, health, and well-being, multidisciplinary care is the gold standard. In addition, for conditions requiring lifelong care, the development of methodical transition from pediatric to adolescent and adult services is necessary. Collaborative clinical networks not only promote quality and consistency in care delivery, they also improve professional learning and raise the standard of research.

History of PAG

Until relatively recently girls with gynecological conditions – particularly when surgery was required – were managed by adult general gynecologists and general surgeons [1,2]. This began to change more than 75 years ago with the opening of the world’s first clinic for children with gynecological problems in Prague in 1940. The work of Professor Sir Jack Dewhurst from the 1960s onward recognized the need for specialist dedicated clinics and collaborative working between health care professionals. Schauffler published the first textbook on pediatric gynecology in 1947 [3]; this was followed by other textbooks, manuals, and atlases published from around the world including texts by Dewhurst in 1963 and 1980 [4,5], Huffman in 1968 [6], and Emans in 1977 [7]. The Journal of Adolescent and Pediatric Gynecology was first published in 1987.

As for all branches of medicine, investigation and treatment should be underpinned by scientific advances. The understanding of pubertal growth and development guided by the definitions by Marshall and Tanner for breast and pubic hair development and growth velocity [8] has enabled conditions to be more clearly described. Improvement of survival rates of childhood conditions has resulted in many more children born with complex medical conditions becoming young adults with sexual and reproductive aspirations. Environmental and societal factors have influenced the prevalence of sexual risk taking, substance misuse, smoking, and obesity, all of which can impact the general and gynecological health of adolescents and young women. Advances in gynecological investigation and treatments include imaging and minimal access surgery as well as hormonal interventions and the introduction of the contraceptive pill. These have dramatically expanded treatment options and choices for girls and young women.

Whereas earlier descriptions in the medical literature focused primarily upon descriptions of surgical techniques for congenital anomalies [9], more recent publications highlight the transition of PAG to a clearly defined subspecialty requiring specific knowledge and surgical as well as nonsurgical clinical skills. In the context of these developments, a number of clinical and scientific networks have emerged to encourage research and provide education and training (Table 1.1). National and international organizations launched include BritSPAG (the British Society for Pediatric and Adolescent Gynecology), ALOGIA (Asociación Latinoamericana de Obstetrica y Ginecologia Infantil y de la Adolescente), FIGIJ (Federation Internationale de Gynecologic Infantile et Juvenile), NASPAG (North American Society for Pediatric and Adolescent Gynecology), and most recently EUROPAG (European Association of Pediatric and Adolescent Gynecology). An important brief of these organizations is to facilitate the development of comprehensive and high-quality clinical services whereby children are appropriately referred and data usefully collected. A collective aspiration that must keep going is to take courageous and collective steps to tackle global health inequalities in PAG [10].

Pediatric and Adolescent Gynecological Conditions

Puberty is typically characterized by a series of biomarkers between the ages of 10 and 16. Although the precise mechanisms that regulate physical growth and pubertal onset are still not clearly understood, they are known to be influenced by a multitude of factors including genetic, social, economic, health, and lifestyle conditions. While changes are usually gradual, menarche is a discreet event that can be dated in girls, whose reproductive and sexual maturity may not be matched by their cognitive and emotional development. Clinical management must also take into account the overall developmental trajectory of the adolescent girl and the familial and social contexts.

The type of conditions treated by PAG specialists can be expected to vary to some extent across regions and nations. In the United States, for example, teenage sexual health is an important part of the remit, whereas in the United Kingdom, this is provided by nationally organized sexual health clinics within a community setting rather than in an acute hospital service. Menstrual disorders make up a large proportion of work in most PAG clinics. Polycystic ovary syndrome (PCOS) and prepubertal vulval dermatological complaints are also common. Most cases of abnormal uterine bleeding in adolescence are due to anovulatory cycles during the first 12 to 18 months after menarche, which is related to underdevelopment of the hypothalamic-pituitary-ovarian axis. Menorrhagia may be related to a bleeding diathesis and occasionally to systemic illness or structural lesions. The principles of investigation are the same as for adult women and can be initiated in the primary sector. Even so, referrals to specialist PAG clinics have increased [11], reflecting perhaps a reluctance among general practitioners and general gynecologists to manage relatively straightforward conditions without specialist input.

Other conditions treated in PAG services include disorders of pubertal development. Primary and secondary amenorrhea and precocious puberty may be associated with complex underlying conditions and are best managed together with pediatric endocrinologists with access to developmental psychological input. Rokitansky Syndrome (müllerian agenesis, Mayer-Rokitnsky-Kuster-Hauser Syndrome, MRKH) is more common than perhaps realized with an incidence in the region of 1:5000 [12]. Ovarian function is unaffected and presentation is usually at adolescence. Primary amenorrhea is reported in the presence of typical secondary sex characteristics. The recent breakthrough of live uterine transplantation has attracted significant attention [13], although debates on ethics and health economics have yet to be advanced.

Complex congenital conditions associated with atypical development of chromosomal, gonadal, and anatomical sex are referred to as “disorders of sexual development” (DSD) [14]. Other preferred terms for this group of conditions include “differences in sex development” and “intersex.” A DSD diagnosis may be made at any age and may include other body differences or physical health problems. Where the external genitalia appear atypical, the diagnosis of the underlying condition is often made in infancy. When the external genitalia look typical but the internal genitalia are not (e.g., absent or small vagina and/or uterus, presence of testes in a girl), the underlying condition may not be identified until adolescence following investigations for primary amenorrhea or virilization at puberty. Medical management of DSD is challenging and continues to evolve. Clinical care must be within a specialist multidisciplinary team with integrated psychological input. Surgery to “normalize” the genitals was accepted as routine in the past. The practice on children has been the focus of debate for the past two decades. Currently, it is framed as a breach of human rights [15]. Prophylactic gonadectomy, which must be followed by steroid replacement, is also under debate [16].

Cloacal anomalies are the most complex in the spectrum of anorectal malformations affecting 1 in 50,000 live births [17]. Diagnosed during pregnancy or at birth, they will initially be under the care of the pediatric surgical team. They encompass a wide array of complicated defects and pose a formidable technical challenge to surgeons. Gynecological input is required at the onset of puberty and multidisciplinary transition clinics are essential to enable young women to move from pediatric to adult care. Other developing fields include preservation of reproductive potential in girls treated for cancer in childhood or adolescence; this falls under the remit of PAG in some services.

Emergent and related global concerns affecting girls and women are female genital mutilation/cutting. Health issues in girls related to female genital mutilation/cutting often fall within the workload of the PAG specialist. Female genital mutilation (FGM) is defined by the World Health Organization (WHO) as composed of various procedures that remove or damage the external female genital organs for nonmedical reasons [18]. The majority of FGM is performed on children [19] with potentially long-term physical and psychological consequences. Migration of families from FGM-practicing countries means that FGM is now a global health concern [20]. All PAG specialists must be aware of the health impact and the legal status of FGM in their own countries and be able to identify and protect girls at risk.

Ironically, in more affluent nations, the number of healthy young women accessing female genital cosmetic surgery (FGCS) is on the rise [21]. The claims to clinical needs for such interventions are dubious [22]. Research in the area is poor and partisan and the benefits are unclear [23,24]. Despite these reservations, bold claims are found in web advertisements that directly target consumers [25,26]. An Australian analysis of provider information has identified surgery as embedded in a neoliberal discourse of individual choice, self-improvement, and objectification. It stresses the rhetoric of choice, empowerment, and agency, thus creating an ideological foundation and justification for cosmetic surgery [27]. Global professional concerns are reflected in a series of position statements and ethical guidance [28,29]. The demarcation between FGM and FGCS is controversial and a recent committee opinion in May 2016 from the American College of Obstetricians and Gynecologists on breast and labial surgery in adolescents prompted widespread condemnation and a large online petition to withdraw the guidance [30]. There is a need to enhance education provided in schools about normal development during puberty and all aspects of sexual and reproductive health. In most countries sex and relationship education is variable, inconsistent, and inadequate.

Standards in PAG

Significant variability in PAG service provision across nations can be expected, as for other medical fields. Even within a country, variation may exist between different regions. In the UK, it is recognized that all acute hospitals should have a PAG lead clinician for children and adolescents with gynecological problems although not all hospitals will undertake management of complex PAG conditions. Although variations in service provision across national and international boundaries are inevitable, it is appropriate to aspire to core standards listed in Table 1.2.

It is recognized that adolescents with medical problems have special needs. Adolescents with gynecological problems have additional needs for privacy and sensitive handling. Many of the gynecological problems encountered relate to intimate bodily functions at a time when the individual is maturing sexually and having to deal with issues that are embarrassing and may be considered taboo. It is crucial to be aware of potential ethnic and cultural differences and communication challenges. For some families, it is often the father and not the mother who can speak English. There is a need for important information to be available in different languages and for professional interpreters to assist in consultations. In some situations the preferences of the adolescents may not be the same as the wishes of the parents. Laws governing confidentiality and consent for adolescents vary from country to country. PAG specialists must ensure they are conversant with the governances that apply to their own clinical practice.

The Multidisciplinary Team (MDT)

Effective interdisciplinary care is critical for the care of adolescents with complex medical and surgical conditions, as well as for adolescents and young women accessing safe and reliable reproductive health care including contraceptive management. Since for many practicing pediatricians, the wide array of options for hormonal contraception may lie outside their usual scope of practice; a working interdisciplinary collaboration with gynecological colleagues to offer expertise and guidance is beneficial. In the tertiary care setting, psychosocial specialists are additional care providers on whom adolescents and young adults and their families struggling with the overwhelming health care environment can draw.

Pediatric psychological research across disease contexts has identified high-level parental stress to be an important determinant in unhelpful coping strategies such as distancing, escaping, and avoidance [31]. Fathers are thought to be more likely than mothers to distance themselves [32]. Parental stress is reduced by being adequately informed about the child’s condition and any interventions, and by opportunities to speak to other parents who have lived through similar experiences [33]. High maternal health, high maternal support, low maternal worry, and child-perceived control are associated with positive psychological adjustment in the diagnosed child [34]. The research in a variety of pediatric contexts makes a strong case for sustained psychological input for parents in pediatric gynecological care.

The UK guidance on DSD recommends as a minimum standard a clinical team of endocrinologists, surgeons and/or urologists, clinical psychologists/psychiatrists, radiologists, neonatologists, and specialist nurses. In addition, links to a wider group of specialties including plastic surgery, clinical genetics, clinical ethics forums, as well as the social services should be established. Patients, parents, and families should be signposted to peer support networks and forums. A team is not a collection of experts. What many guidelines have fallen short of is recommendations for the core conditions that are required for effective team function. However, even with such recommendations, skillful teamwork does not happen by chance but requires team development processes to realize its full potential. Without investment in team development, an MDT may not deliver the intended benefits to patients as it incurs substantial costs [35].