Al-Azhar Assiut Medical Journal

ORIGINAL ARTICLE
Year
: 2017  |  Volume : 15  |  Issue : 1  |  Page : 3--6

Developmental sex disorders: the proposed clinically applied new classification


Yasser Helmy1, Essam-Elden M Mohamed2,  
1 Department of Plastic Surgery, Al-Azhar University Hospital, Cairo and Assiut, Egypt
2 Department of Dermatology and Andrology, Al-Azhar University Hospital, Cairo and Assiut, Egypt

Correspondence Address:
Essam-Elden M Mohamed
Department of Dermatology and Andrology, Al-Azhar University Hospital; Assiut
Egypt

Abstract

Usage of the term developmental sex disorders is still under debate as it leads to confusion, because there are many deficits in the nomenclatures and classification as it did not include any clinical consideration and it is based mainly on genetic karyotype nomenclatures and omits the abnormal psychological developmental sex disorder (gender identity disorder). This study is an attempt to provide a clinically applied new classification to overcome the problems associated with the previous classification and take into consideration the management of each individual case.



How to cite this article:
Helmy Y, Mohamed EEM. Developmental sex disorders: the proposed clinically applied new classification.Al-Azhar Assiut Med J 2017;15:3-6


How to cite this URL:
Helmy Y, Mohamed EEM. Developmental sex disorders: the proposed clinically applied new classification. Al-Azhar Assiut Med J [serial online] 2017 [cited 2019 Sep 23 ];15:3-6
Available from: http://www.azmj.eg.net/text.asp?2017/15/1/3/213591


Full Text



 Introduction



The nomenclature used to describe atypical sexual differentiation has since changed. Instead of using the controversial terms such as ‘hermaphroditism’ and ‘intersex’, a new term ‘developmental sex disorders’ (DSDs) was recommended [1],[2],[3],[4],[5]. This broad term ‘DSD’ includes common disorders such as Klinefelter syndrome and less common diseases such as cloacal exstrophy and aphallia. The term DSD is now proposed to define congenital conditions in which a disharmony between chromosomal, gonadal, and anatomical sex exists [2].

DSD is one of the most challenging clinical conditions with difficult diagnosis and management. It is important to diagnose DSD correctly as soon as possible to counsel the parents appropriately. The management of DSDs needs a multidisciplinary team including a pediatric, an endocrinologist, a urologist, and a psychiatrist for optimal management [5],[6],[7], with communication with the primary care physician [8].

The aim of this study was to propose a new classification to provide the multidisciplinary team more clear guidelines about the causes, required investigation, and the definite clinical plane of management.

Classification of developmental sex disorder and its limitations

The Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology consensus group proposed the classification of DSDs, as shown in [Table 1].{Table 1}

There are potential criticisms to this classification, although it is widely accepted, less confusing, and carries no unfavorable family terms such as intersex. One of the limitations is that this classification system for the causes of DSD has been proposed based only on the karyotype and does not identify genital anomalies with no detectable biological or chromosomal anomalies such as undescended testicles, hypospadias, or even labial adhesions, which represent the vast majority of patients [9].

A second limitation is that this terminology includes the use of the term ‘sex’ in a description of the developmental abnormality with inevitable associated connotation [10]. The terms ‘gender’, ‘sex’, and ‘sexual’ have discordant interpretations. ‘Gender’ is a social concept that does not take into account the ‘individual identity’ (inside identity) and the future ‘gender role’ (behavioral identity), which are invisible at birth [11].

The third limitation is that this classification is without precise clinical classifications and omitted the abnormal psychological DSD, which is termed separately as gender identity disorder.

Proposed classification by Helmy and Mohamed

As shown in [Figure 1], our proposed classification classifies the broad term of disorders of sex development into psychosomatic or pathologic types.{Figure 1}

This classification then subtitles the pathological item into three subcategories according to its etiology: genetic, the embryological arrest of normal closure pathway, or endocrinological DSDs.

Psychosomatic or psychosomatic disorders are terms that try to find the actual relation between physical and mental illness [12]. Although our classification has attempted to correlate the gender identity disorder to the pathological DSDs, until now there are no scientific research and evident-based studies that clearly outline the pathogenesis of behavioral disorders in gender identity disorder [13]. The degree of impact on genetic biology, psychology, and environmental causes in the pathogenesis of psychosomatic illness is not well understood yet [14].

The genetic DSDs include 45,x (Turner’s syndrome and variant), 47,XXY (Klinefelter syndrome and variant), 45,X/46,XY (mixed gonadal dysgenesis and overtesticular DSD), and 46,XX/46,XY (chiameric ovotesticular DSD).

Embryological DSDs include male 46,XY (e.g. severe hypospadias and cloacal extrophy) and female 46,XX (e.g. cloacal extrophy, vaginal atresia, Müllerian duct aplasia; renal aplasia, and cervicothoracic somite dysplasia, and other syndromes).

Endocrinological DSDs include the following: (a) 46,XY patients with disorders of testicular development either due to complete gonadal dysgenesis (Swyer syndrome), partial gonadal dysgenesis, gonadal regression, and ovotesticular DSD or due to disorders in androgen synthesis or action [androgen biosynthesis defect (e.g. 17‐hydroxysteroid dehydrogenase deficiency, 5α reductase deficiency, and steroidogenic acute respiratory mutations), defect in androgen action (e.g. complete androgen insensitivity syndrome and partial androgen insensitivity syndrome), luteinizing hormone receptor defects (e.g. Leydig cell hypoplasia and aplasia), and disorders of anti-Müllerian hormone and anti-Müllerian hormone receptor (persistent Müllerian duct syndrome); and (b) 46,XX patients with disorders of ovarian development, which is subdivided into ovotesticular DSD [testicular DSD (e.g. SRY+ and dup SOX9) and gonadal dysgenesis] or androgen excess [fetal (e.g. 21-hydroxylase deficiency and 11-hydroxylase deficiency), fetoplacental (aromatase deficiency and cytochrome P450 oxidoreductase gene defects), and maternal (luteoma, exogenous, etc.)].

Management plan according to this classification is dependent on the type of DSDs. Hence, if it is pathological type two (embryological arrest of normal closure), surgical management is adopted after proper investigation workup, and cases of genetic or endocrinological DSD should be subjected to medical workup and medical management before surgical interference.

Cases of psychosomatic type (psychological gender identity disorders) should be managed first with psychiatry assessment and follow-up before any decision for medical and or surgical interventions is made.

 Conclusion



Our proposed classification is a simpler and clearer guide for a multidisciplinary team who should be involved in the management of DSDs.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1Dreger AD, Chase C, Sausa A, Gruppusa A, Frader J. Changing nomenclature/toxonomy for intersex, scientific and clinical rationale. J Pediatr Endocrinol Metab 2005; 18:729–733.
2Hughes IA, Houk C, Ahmed SF, Lee PA. LWPES1/ESPE2 Consensus Group. Consensus statement on management of intersex disorders. Pediatrics 2006; 118:488–500.
3Hughes IA. Disorders of sexual differentiation. Horm Res 2007; 67(Suppl 1):91–95.
4Houk CP, Lee PA. Consensus statement on terminology and management: disorders of sex development. Sex Dev 2008; 2:172–180.
5Lee PA, Houk CP, Ahmed SF, Hughes IA. International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006; 118:e488–e500.
6Lee PA. A perspective on the approach to the intersex child born with genital ambiguity. J Pediatr Endocrinol Metab 2004; 17:133–140.
7Clayton PE, Miller WL, Oberfield SE, Ritzén EM, Sippell WG, Speiser PW. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 2002; 58:188–195.
8American Academy of Pediatrics Council on Children with Disabilities. Care coordination in the medical home: integrating health and related systems of care for children with special health care needs. Pediatrics. 2005 116:1238–1244.
9Mouriquand PD, Gorduza DB, Gay CL, Meyer-Bahlburg HF, Baker L, Baskin LS et al. Surgery in disorders of sex development (DSD) with a gender issue: if (why), when, and how?. J Pediatr Urol 2016; 12:139–149.
10Dacou-Voutetakis C. A multidisciplinary approach to the management of children with complex genital anomalies. Nat Clin Pract Endocrinol Metab 2007; 3:668–669.
11Cheikhelard A, Gapany C, Catti M, Mouriquand P. Potential determinant factors of sexual identity in ambiguous genitalia. J Pediatr Urol 2005; 1:383–388.
12Kendell RE. The distinction between mental and physical illness. Br J Psychiatry 2001; 178:490–493.
13Wallen K. Hormonal influences on sexually differentiated behavior in nonhuman primates. Front Neuroendocrinol 2005; 26:7–26.
14Gray L, Hannan AJ. Dissecting cause and effect in the pathogenesis of psychiatric disorders: genes, environment and behaviour. Curr Mol Med 2007; 7:470–478.