They are extremely rare – but the diagnosis comes as a shock: what should be done when children are born with genital malformations? Clearly: it is best to consult an experienced specialist who specializes precisely in this field immediately. Prof. Dr. med. Dr. h.c. Maximilian Stehr of the Cnopf Children’s Hospital in Nuremberg is such a doctor. Not only does he possess outstanding expertise at university level, but his great empathy also allows him to immediately ease the burden on the affected parents – because he always finds the right solution together with them. Leading Medicine Guide spoke with the expert, who is one of the very few specialists in this field.
Leading Medicine Guide: Professor Stehr, are genital malformations detected immediately after birth, or are they only identified at a later age?
Prof. Dr Maximilian Stehr: Genital malformations are congenital. They are therefore usually detected immediately during the first examination straight after birth. The most common condition is hypospadias, which is a congenital malformation of the male urethra. In this condition, the urethra is shortened and does not end at the tip, but on the underside of the male genitalia. In severe cases, this urogenital malformation should be treated surgically; we recommend such an operation between the 9th and 12th month of life. However, there are also much rarer malformations. Some may only become apparent later, such as malformations of the internal female reproductive organs.
Leading Medicine Guide: For parents, a diagnosis shortly after birth comes as a shock. Where can they find help, and what should they do in such a case?
Prof. Dr Maximilian Stehr: It is indeed not easy for parents to be confronted with such a diagnosis. We have specialist consultation hours for this at the Cnopf Children’s Hospital in Nuremberg. Overall, there are few centers in Germany that specialize in genital malformations. Here in Nuremberg, we have extensive experience in treating these children.
Leading Medicine Guide: How many specialists are there in Germany for complex surgical cases in this field?
Prof. Dr Maximilian Stehr: There are few specialists for complicated and rare urogenital malformations. Most are members of the European Society of Pediatric Urology (ESPU). This medical society organizes regular specialist training courses. For instance, I, along with two other colleagues from our clinic, have obtained the Fellow of the European Academy of Pediatric Urology (FEAPU) qualification, which is a kind of European specialist accreditation in pediatric urology. In Germany, 26 specialists are authorized to hold this title.
Leading Medicine Guide: When are children usually operated on?
Prof. Dr Maximilian Stehr: That depends on the clinical picture. Some malformations need to be addressed immediately, as they can otherwise become life-threatening, for example where urinary outflow is concerned. Cases involving anatomical reconstruction are usually carried out around the age of one. It is important to bear in mind that we are dealing with a psychologically very sensitive area. The procedure must not become a traumatic experience for the child; from a child psychiatric or child psychological perspective, we must be extremely gentle.
Leading Medicine Guide: Are there any special, new surgical methods in this specific field of pediatric urology?
Prof. Dr Maximilian Stehr: To treat hypospadias, for example, there are a variety of technical approaches. It always depends on the individual case. The procedure can take several hours; in any case, we use only the finest instruments and suture materials and work with magnifying glasses and a great deal of patience. We perform around 100 hypospadias operations a year at the Cnopf Children’s Hospital.
Leading Medicine Guide: Is one operation sufficient, or do the corrections need to be carried out in several stages?
Prof. Dr Maximilian Stehr: We can often complete the operation in a single stage. However, this is not always advisable, as the risk of complications would then increase. We always discuss everything in great detail with the parents, as they know their child and their specific condition best.
Leading Medicine Guide: Parents play an important role throughout the entire treatment process and certainly need special support too. How does that work?
Prof. Dr Maximilian Stehr: Yes, when dealing with sick children, we as doctors must always keep the parents and the whole family in mind. We therefore provide parents with psychological support and counseling where necessary, and our nursing staff are also specially trained in this regard. Severe genital malformations in particular are very distressing for parents.
Leading Medicine Guide: Could you explain that in a little more detail?
Prof. Dr Maximilian Stehr: Time and again, children are born who cannot initially be clearly assigned to a specific sex based on their external appearance. Either the chromosome set does not match the appearance of the genitals, the genitals themselves are ambiguously formed, or the gonads are malformed. Sometimes both testicular and ovarian tissue is present. The debate regarding the sexual autonomy of these children is currently ongoing. I was recently invited to Berlin as an expert to the Federal Ministry of Justice to comment on this issue. The term ‘disorders of sex development (DSD)’ encompasses a wide range of conditions, some of which are extremely rare. Today, we believe that in severe cases of ambiguous sex development, the children affected should be allowed to have a say in the decision-making process and that it is often best to wait and see. After all, the ultimate goal should be to enable them to lead as happy a life as possible, rather than having to conform to a norm. In any case, the family should seek advice from a specialist center and place their trust in the various experts trained in this field.
Thank you very much for the in-depth discussion and the valuable insights into your important medical work as a pediatric surgeon and pediatric urologist!
What exactly is meant by…
Genital malformations are rare and are usually diagnosed immediately after birth. For treatment, parents can seek advice at a specialist center, for example: Cnopfsche Children’s Clinic, Pediatric Urology & Pediatric Surgery, St.-Johannis-Mühlgasse 19, 90419 Nuremberg, www.klinik-hallerwiese.de
Hypospadias is the most common congenital malformation of the male urethra. It is usually detected in newborns and is typically treated surgically around the age of one.
‘Disorders of Sex Development / DSD’ (formerly: intersexuality) describes ambiguous sex development, possibly involving a discrepancy between chromosomal sex, the internal sex organs and the appearance of the external sex organs. The exact cause of the malformation is not known in all cases. Earlier treatment approaches focused on assigning a gender as early as possible and performing surgery accordingly. This treatment approach is now being critically questioned, particularly by those affected. Since 2015, the German Medical Association has used the term “variants of sex development” to avoid a pathologisation that is perceived as discriminatory by those affected. Today, the focus is on discussing the topic of intersexuality with the child or young person and concentrating not on achieving the most “normal” appearance possible, but on creating the most satisfying life plan possible with this particular form of sexual development.
Image source: (c) Trsakaoe, (c) Konstantin Yuganov, (c) Oksana Kuzmina, (c) komokvm (c) Viacheslav lakobchuk – Adobe Stock.
