This is a theoretical research paper on the psychological consequences of hypospadias, a male congenital deficiency of the urethra.  The term hypospadias refers to the urethral meatus, or opening, which instead of being located at the tip of the penis is found somewhere along the ventral side of it.  There are different degrees of severity of  hypospadias.  In the least severe cases the urethral opening is located just below the glans of the penis; in the most severe cases the opening is found at the base of the penis close to the perineum.

The vast majority of literature concerning hypospadias is found in the medical domain, primarily in surgical and pediatric urology, but also in the field of endocrinology.  Hypospadias is one of the most common congenital malformations in boys and men, and consequently there are a great many articles which discuss its correction by surgery as well as its physical etiology. 

My interest in approaching the subject of hypospadias in a psychology thesis stems, in part, from the fact that there is hardly any data on this issue in French literature in the area of human sciences, and the field of psychology in particular.  My objective is to contribute a modest advancement in this field.  Since we know that hypospadias affects almost one man in 300 - according to the latest estimates - it seems important to explore the possible reasons for the relative silence surrounding the condition.  And since hypospadias affects one of the most personal parts of the male anatomy,  how could it not have psychological repercussions?  How could this condition only relate to the physical aspects?  As a future psychologist, it seems very relevant to me to explore these questions more deeply.    

In all honesty, however, even before commencing this research I had some idea of the kind of answers which might be found in answer to these two questions.  Being personally affected by the issue, I'm already aware that hypospadias is a psychological condition as well as a physical one, and that it is not easily approachable.  The difficulty in finding information about hypospadias, along with the lack of opportunities for discussing it, has for many years left me perplexed. For a long time I have been asking myself not only what the causes of hypospadias could be, but also whether I would ever have the opportunity to meet other people in the same situation.

I must add that as well as trying to find articles or research studies on the consequences of hypospadias, my approach has been towards lifting the veil which conceals this condition. And the title of this thesis tries to reflect how much men with hypospadias wish to better understand the impact of hypospadias both on ourselves and on others. You may wonder why a psychology thesis with these aims comprises two chapters on the medical aspects concerning hypospadias and only one chapter concerning its psychological, psychosocial and psychosexual consequences. I believe it's extremely useful to offer people with little knowledge of the subject some information on the various data available - embryological, anatomical, etiological and epidemiological - and also some information on the surgical treatment of hypospadias.  Why is this?

First, the medical aspects of hypospadias represent the greater part of the available literature. And the medical literature can be very useful, for example in better understanding the origins of hypospadias.  In recent years, many epidemiological and eco-toxological studies have suggested that hypospadias might be increasing in many industrialized countries. There may be a link to our modern lifestyle, particularly to many forms of environmental pollution, which may influence vital hormonal processes such as the production of male hormones (androgens) during the embryo's sexual differentiation, contributing to the malformation of the external male sex organs. 

Second, as well as helping us to understand the etiology of hypsospadias, the medical literature describes the physical consequences of hypospadias and the effect it has on urination and sexual activity.  I regard it as important to review work in the fields of pediatric urology and surgery to see which surgical techniques have been adopted as best practice in this field, and to consider both the resulting quality of surgical reconstructions of the urethra and the psychological impact of this type of surgery. 

This thesis is divided into three chapters.  The first chapter presents some general reflections on hypospadias, the second chapter reviews the issues around surgical treatment of hypospadias, and the third chapter is devoted to the psychological, psychosocial and psychosexual issues associated with hypospadias.  

In the first chapter I start by defining hypospadias, and then present data related to embryology, anatomy, medical classification, and the etiology and epidemiology of hypospadias. 

In the second chapter, I discuss the surgical treatment of hypospadias.  I consider the the objectives and principles of surgery in this field and review the physical consequences of such surgery.  I also present a historical review of hypospadias surgery.  In addition, I explore the issues surrounding the optimum age for surgery, surgical techniques currently utilized, inherent complications in this type of surgery and finally, pre- and post-operative care.  

In the third chapter, I present three psychological studies on hypospadias.  Two of these are quantitative in nature and one is qualitative.  After reviewing the focus of these studies, I consider the principal results and the implications of this research for people with hypospadias and their families.  

The first chapter of this thesis presents a selection of knowledge and discoveries concerning hypospadias drawn from medical research across several disciplines.  Initially, however, I present several definitions of hypospadias drawn from both normal and more specialized dictionaries: some aspects of these definitions will be considered in more detail elsewhere in this thesis.  Next, I review the embryological development which leads to formation of the genito-urinary tract, with particular emphasis on the development of the male fetus; this serves as a background to the embryological origins of hypospadias.  Then, I review the anatomical aspects of hypospadias and describe the various forms it can take. As we shall see, the diversity of hypospadias has resulted in the creation of special classification systems.  In addition, I have approached the question of the etiology of hypospadias.  To this end, I propose a joint view of the principal etiological hypotheses to be found in literature, taking into account many possible factors: hereditary, genetic, endocrinal and environmental.  Finally, the first chapter ends with some epidemiological data on hypospadias, which demonstrates the frequency and incidence of this condition.

Etymologically, the term hypospadias is derived from the Greek hupo, meaning 'under' and  spaô, a 'fissure' or  'crack'.  

Firstly we can note a few definitions from different everyday dictionaries.  The definition of hypospadias given by Le Petit Larousse (2003), is relatively short: Malformation of the penis in which the urethra opens on the inferior side and not at the extremity.'  Le Petit Robert (2003), defines hypospadias as follows: 'Malformation of the urethra, characterized by a urinary meatus situated on the inferior side of the penis or even at the level of the perineum.

Other more specialized dictionaries also offer us information as to the meaning of the word.

The Dictionnaire des Termes de Médecine (Garnier & Delamare, 2000) gives an anatomical definition: Malformation of the male urethra, characterized by the division, to a greater or lesser extent, of the inferior wall, with an abnormal orifice situated at a variable distance from the extremity of the organ.

The definition from the Larousse Médical (2003) seems more descriptive : Congenital malformation in which the urethral meatus (external opening of the urethra) is situated on the inferior side of the penis.  A malformation of the prepuce, absent on the anterior side is always associated with hypospadias.  The urethral meatus may open at different levels of the urethra.  Hypospadias is known as glanular when it opens under the glans, penile when it opens in the middle of the penis and peno-scrotal when it opens at the junction of the penis and scrotum.

In Le Dictionnaire des Maladies, for the use of health professionals (Prudhomme & d’Ivernois, 2002), still more information can be drawn from the definition: Malformation of the urethra, very common (affects one boy in 300), characterized by a malpositioning of the opening of the urinary meatus which is situation further back on the glans, on the inferior side of the penis or at the junction of the penis and scrotum.  Chordee is often associated.  Treatment is surgical and gives excellent results. 

Most of the knowledge about hypospadias resides in the specialized medical field of surgery and pediatric urology.  I quote, for example, the definition offered by De Sy & Hoebeke (1996, p.158) : Congenital anomaly of the penis which results in an incomplete development of the anterior urethra.  A hypospadias is characterized by the degrees of deficiency of the urethra and of the corpus spongiosum and the corpus cavernosa.

I will expand the various aspects of hypospadias implied in the above definitions through a review of the medical literature on hypospadias.  I will center my subject matter on the many relevant elements, namely: the embryogenesis of the penis and urethra, anatomical knowledge of hypospadias, etiological hypotheses, epidemiological data and treatment by surgery.

3. Embryologic origins of hypospadias 

Hypospadias may be considered as a relatively common malformation of the male genito-urinary organs (Hencha-Razavi & Escudier, 2000). It is caused by arrested development of the urethra during the period of embryological sexual differentiation (Larsen, 1996).  To better understand this, I shall review some principles of embryonic sexual differentiation [1], the process which leads to development of the genito-urinary tract in humans.  I will pay particular attention to this development in the male.  To do so, I will refer to Hugues (2001, p. 3281), for whom the process of sexual differentiation can be defined as  'phenotypic development of the internal and external genital structures, under the action of hormones which have been produced following the determination of the gonad'.

The differentiation of the gonad (which at the beginning of the process is the same in both sexes [2]) into a testicle or an ovary is a genetic process known as sexual determination (Hugues, 2001). The factors responsible for sexual determination are partly chromosomal and partly at the level of the gene (Hencha- Razavi & Escudier, 2000). At the moment of conception the sex of the embryo is determined by the combination of sexual chromosomes: in males, the chromosomal sex is most often 46 XY, in females 46 XX.  In addition, there is a specific gene sequence responsible for testicular development.  It appears that the gene SRY [3], carried by the Y chromosome, is the principal initiator of the cascade of genetic interactions which determine the development of the undifferentiated gonad into a testicle [4]. As for the term gonadic sex, this is used to describe the status of the gonads: whether they comprise testicular tissue, or ovarian tissue.

Following the gonad's determination as a testicle, masculine sexual differentiation is dependent on the production and action of androgens - hormones of gonadic origin (Hugues, 2001).    

Until the sixth week, whatever the sex of the embryo, the internal genital passages are represented by two pairs of genital canals: the Wolferian and Müllerian ducts.  These ducts take one or other direction according to the hormones produced by the gonads (Hencha-Razavi & Escudier, 2000).  In male embryos (46 XY), the internal male phenotype is achieved thanks to the secretion and action of two androgens.  One is the anti-Müllerian hormone (AMH) which permits a regression of the Müllerian ducts. The other is testosterone, which contributes to the maintenance  and development of the Wolferian ducts (epididymis, vas deferens, seminal vesicles and ejaculatory ducts [5].)   

The constitution of the external male phenotype sex (external genital organs and genito-urinary sinus) needs the conversion of testosterone into a more powerful hormonal derivative - dihydrotestosterone or DHT - which happens with the help of  a specific enzyme, type 2  5-alpha-reductase (Hugues, 2001).    

To recap, the external genital structures develop in both sexes (46 XY or 46 XX), from the same original tissues.  In the state known as undifferentiated (Hencha-Razavi & Escudier; Larsen, 1996), these tissues are identical and comprise a pair of labio-scrotal folds, a pair of genito-urinary folds and a genital tubercule (see Figure 1).    

Finally, when the epithelial invagination of the glans is defective, the urethral opening is located under the glans, and this is known as 'glanular' hypospadias (see Figure 5).

FIGURE 5  Source: Larsen (1996).

The conditions described (Larsen, 1996), represent the four major forms of hypospadias likely to be encountered.  However, as we shall see, numerous anatomical varieties of this condition are possible.

4. Anatomical considerations 

As already outlined, the term hypospadias refers to the position of the genito-urinary orifice - the urethral meatus - when it opens somewhere along the path of the urethra (Wese, Opsomer, Abi-Aad et al., 1994). To recap, in a man the urethra is a canal in the form of a tube which runs the whole length of the penis and opens as a hole or slit positioned at the end of the glans. The primary functions of this tubular structure are to carry urine and to allow the passage of semen (Tortora & Grabowski, 1994).

Three anatomical characteristics have traditionally been associated with hypospadias (Paparel, Mure, Margarian et al., 2001), as follows:  

-       an ectopic urethral meatus

5. Diversity and classification of hypospadias

There is a diversity of hypospadias. As remarked by Arap et Mitre (2000, p. 304), hypospadias may be observed in a variety of configurations, varying from an 'ambiguous aspect of the external genital organs' to 'a completely formed penis with only a superficial deficiency'.

5.1. Hypospadias or intersexuality ? 

However, in the vast majority of cases, the presence of hypospadias does not lead to doubt as to the male sex of the child (46XY) or to his acceptance as a boy (American Academy of Pediatrics [AAP], 2000 ; Wilson & Reiner, 1999 ; Zemel & Slover, 2002).

5.2. Named variations of hypospadias

Various classifications of hypospadias have been proposed, defined mostly by the location of the urethral meatus at birth. For example, one such scheme is shown below (Wese et al., 1994):

Names for variations of hypospadias:        Possible locations of the urethral meatus:

1)    Glanular                                                  On the underside of the glans 

8)    Perineal                                                   At the level of the perineum 

Over time, several different classifications of hypospadias have been suggested based on the position of the urethral meatus (Sheldon & Duckett, 1987).  However, many pediatric urologists have adopted a particular classification developed, some thirty years ago, by a surgeon named Barcat (Barcat, 1973, quoted in Zaontz & Packer, 1997).  This classification, based on (possible) associated chordee, considers that hypospadias can only be classified after a surgical straightening of the penis has taken place [14]. 

Recent genetic studies carried out on humans (Frisén, 2002), and on animals (Morgan, Nguyen, Scott & Stadler, 2003), have shown that alterations affecting certain genes - such as gene HOXA13 - are susceptible to change the response of the receptor to androgens (located at the level of the genital tubercule) and to lead to the phenotypic expression of hypospadias. 

6.3. Endocrinal factors

The presence of hypospadias may also be explained through certain endocrinal factors.  Nowadays, it is widely accepted that androgens play a crucial role in the development of the male external genital organs (Hugues, 2001). More precisely, recent anatomical studies support the hypothesis that androgens are essential for the formation of the ventral portion of the human urethra (Liu, Cunha, Russel et al., 2002). This type of research supports even more strongly the possibility that hypospadias can appear following deficiencies during the biosynthesis of 5-alpha-reductase or via a defect in the androgen receptors.  

It is notable also that other hormone deficiencies, such as an excessive production of the anti-Müllerian hormone (AMH) (Austin, Siow, Fallat et al., 2002), may equally play a role in the etiology of hypospadias by interfering with the biosynthesis of testosterone.

6.4. Environmental factors

In recent years a debate has begun in the scientific community about the negative impact of environmental factors on male reproduction in humans (Weber, Pierik, Dohle & Burdof, 2002).    

The list of products incriminated as endocrine disruptors is a long one.  According to Sultan et al. (2001), this list comprises diverse synthetic products such as insecticides, pesticides, fungicides, industrial chemical products, substances used in the pharmaceutical industry, detergents and materials used in the fabrication of plastics.  Certain natural substances of vegetable origin but having similar properties to hormones naturally produced in the body (animal and human), known as phyto-estrogens, have also been classified as potential endocrine disruptors (Santti, Makela, Strauss et al., 1998). It is now almost ten years since researchers alerted the scientific community to the possible links between the presence of these substances in our environment and the incidence of demasculinization phenomena [16] in diverse animal species living in the natural environment (Hose & Guillette, 1995) !

Scientists have recently proposed the hypothesis that endocrine disruptors may be partly responsible for hypospadias in humans (Baskin, Himes, & Colborn, 2001).  But only a limited number of studies on this subject exist.  Klip, Verloop, van Goel et al. (2002) showed that boys born to mothers who had been exposed to diethylstilbestrol [17] (DES) in utero had a higher risk of hypospadias. Another study (North & Golding, 2000), suggested that a potentially excessive consumption of phyto-estrogens (via a strictly vegetarian diet in the mother) could disrupt genito-urinary development in the male fetus.  Some studies, however, have found no accumulated risks in certain target populations. Vrijheid, Amstrong, Dolk et al. (2003) recently reported that mothers exposed (through their professional occupation) to products classed as endocrine disruptors have no increased risk of giving birth to a child with hypospadias (Vrijheid, Armstrong, Dolk et al., 2003).