Imaging, endoscopy and diagnostic surgery.
Abstract
Imaging of the inner genitalia and the gonads is part of the diagnostic work-up and is essential for an individualized approach to the disorder of sex development individual. Ultrasound is used as a first-line modality to detect the presence of a uterus and gonads. Magnetic resonance imaging can reveal the sex duct anatomy and details of prostate and pelvic muscle anatomy. Laparoscopy is an invasive surgical procedure that adds valuable information in gonadal dysgenesis and situations of diagnostic uncertainty. © 2014 S. Karger AG, Basel.
PMID: 25247646 [PubMed - in process] (Source: Endocrine Development)
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Wünsch L, Buchholz M Tags: Endocr Dev Source Type: research
Fertility issues in the management of patients with disorders of sex development.
Abstract
Fertility potential is one of the issues that should be considered by the multidisciplinary team when addressing gender assignment, surgical management, the process of disclosure to patients and their families, and prospective long-term outcomes of individuals with disorders of sex development (DSD). In this article, we review the current evidence of the fertility potential of patients with: (1) dysgenetic DSD, including pure and partial gonadal dysgenesis, asymmetric gonadal differentiation, ovotesticular DSD and 46,XX testicular DSD; (2) 46,XY DSD due to abnormal testicular hormone production or...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Guercio G, Rey RA Tags: Endocr Dev Source Type: research
Disorders of sex development peer support.
Abstract
The 2006 Consensus Statement on Management of Intersex Disorders describes peer support as integral to a comprehensive model of care for disorders of sex development (DSD). Affected adults and families look to peer support groups (PSG) for informational, emotional and social support to strengthen coping and assist with the process of shared and informed decision making. Peer support for DSD is relatively new and much can potentially be learned from studies examining the relationship between PSG characteristics and their benefits in other medical conditions. Healthcare providers' awareness of and a...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Baratz AB, Sharp MK, Sandberg DE Tags: Endocr Dev Source Type: research
Improving the communication of healthcare professionals with affected children and adolescents.
Abstract
All communication with children and adolescents with disorders of sex development (DSD) must be age appropriate and tailored to their developmental levels and needs. Communication is as much about information concerning the DSD as it is about listening to the individual's thoughts, questions and anxieties. Especially small children are dependent on, and are best reached or helped through the parents. If the diagnosis is made early the child should 'grow into disclosure'. The parents and the child should be involved in a continuous educational interactive process. Sexual maturation and development ...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Nordenström A, Thyen U Tags: Endocr Dev Source Type: research
Working with adolescents and young adults to support transition.
Abstract
Transition of medical care is a multifaceted, active process that attends to the medical, psychosocial, educational and vocational needs of adolescents and young adults as they move from child- to adult-centred care. Transition from paediatric to adult services is recognized as an important part of continuous care for young people with disorders of sex development (DSD), just as it is for all young people affected by chronic medical conditions. There is evidence that the medical community is failing to transition young people with DSD safely, the result being that young people are lost to care and...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Gleeson H, Wisniewski AB Tags: Endocr Dev Source Type: research
Past experiences of adults with disorders of sex development.
Abstract
When a human being born with any disorder/difference of sex development (DSD) reaches adulthood, the experience lived may be quite varied, depending partly on the age at diagnosis, the underlying cause, physical and health involvement, family circle, health system care received, societal culture and psychological ability to face the process, etc. As affected persons may suffer not only from diverse types of physical differences, but also difficulties in adapting their lives to the most common social mores, international consensus has long advocated a pluridisciplinary care involving different medi...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Audí L Tags: Endocr Dev Source Type: research
Sex hormone replacement in disorders of sex development.
Abstract
People with disorders of sex development (DSD) may have impaired sex steroid production or their gonads removed before, during or after adolescence, thus requiring hormone replacement therapy (HRT) to induce puberty and/or maintain secondary sexual characteristics, to optimize bone health, and to promote physical and social well-being. Oestrogens are usually used for this purpose in persons reared as females (eventually combined with progestins if a uterus is present) and androgens in those reared as males. An alternative therapy for women with ascertained complete androgen insensitivity syndrome ...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Birnbaum W, Bertelloni S Tags: Endocr Dev Source Type: research
Hydrocortisone replacement in disorders of sex development.
Abstract
Patients with defects in the steroid biosynthesis and resulting disorders of sex development are the largest group among patients with such disorders. Many of these patients suffer from adrenal insufficiency and have to take either glucocorticoids or a combination of glucocorticoid and mineralocorticoid replacement therapy from birth to avoid life-threatening complications. In this chapter, the physiologic situation of cortisol secretion and the different possibilities of hormone replacement therapy are discussed. Further attention is given to stress-dosing of glucocorticoids, especially hydrocort...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Blankenstein O Tags: Endocr Dev Source Type: research
Advances in molecular markers of germ cell cancer in patients with disorders of sex development.
Abstract
The risk of malignant transformation of germ cells, leading to germ cell cancer (GCC) in patients with disorders of sex development, is highly heterogeneous and dependent on a number of parameters, of which the presence of Y-chromosomal material is essential. This chapter describes the networks, both protein-coding and regulatory processes, related to normal gonadal development and GCC, with focus on recent advances of molecular markers for early diagnosis. © 2014 S. Karger AG, Basel.
PMID: 25247654 [PubMed - in process] (Source: Endocrine Development)
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: van der Zwan YG, Cools M, Looijenga LH Tags: Endocr Dev Source Type: research
Managing the risk of germ cell tumourigenesis in disorders of sex development patients.
Abstract
The risk of germ cell cancer (GCC) is elevated in many disorders of sex development (DSD) patients, although not to the same extent. A number of risk factors have been identified recently, but their interplay and relative impact is currently not fully clear. This paper offers guidance on how theoretical knowledge on GCC risk can be translated to the clinical setting, taking into account individual patient characteristics. Guidelines for decision making in different patient groups, based on a literature review, epidemiological evidence, pathological and clinical research, and personal experience ar...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Cools M, Looijenga LH, Wolffenbuttel KP, T'Sjoen G Tags: Endocr Dev Source Type: research
Timing of hypospadias repair in patients with disorders of sex development.
Abstract
What little data exist as to the optimal timing of hypospadias reconstruction is based on retrospective studies and expert opinion. No data exist as to the optimum timing of hypospadias reconstruction in the extremely small subset of patients with severe hypospadias that merits a disorder of sex development (DSD) diagnoses. Until such data exist, it seems prudent to continue to advocate for early and accurate diagnosis for patients with severe hypospadias to determine if they should be classified as a DSD. At that time, based on expert opinion, we would advocate early reconstructive hypospadias su...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Springer A, Baskin LS Tags: Endocr Dev Source Type: research
Timing of surgery for feminizing genitoplasty in patients suffering from congenital adrenal hyperplasia.
Abstract
This chapter refers only to female patients with congenital adrenal hyperplasia (CAH). CAH represents the largest subgroup of individuals with 46,XX disorders of sex development. The stimulation of the androgen production leads to a prenatal virilization among these girls. The phenotype is influenced by the severity of the enzyme defect, leading to a virilization of the external genitalia in varying degrees. On the other hand, the affected girls are clearly anatomically female with regularly developed female internal genitalia. Female puberty and potential female fertility are therefore to be expe...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Eckoldt-Wolke F Tags: Endocr Dev Source Type: research
Timing of feminising surgery in disorders of sex development.
Abstract
The role of feminising surgery in disorders of sex development (DSD) has been a topic of intense discussion for many years. The controversy mainly focuses on the timing of surgery: early (in childhood) or delayed (in adolescence), with clinicians divided in opinion. This conflict between proponents of either treatment approach remains unresolved, and will continue to do so until long-term outcome data from prospective studies become available. A significant recommendation of the Chicago Consensus Statement in 2005 was the need for individuals with DSD to be cared for exclusively in specialised cen...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Wolffenbuttel KP, Crouch NS Tags: Endocr Dev Source Type: research
Phalloplasty: A Panacea for 46,XY Disorder of Sex Development Conditions with Penile Deficiency?
Abstract
In cases of severe penile inadequacy, such as in pathological conditions involving penile amputation (e.g. penile cancer), or in 46,XY disorders of sex development with severe undervirilization or maldevelopment of the penis (e.g. idiopathic micropenis, cloacal exstrophy), standard (surgical) penile lengthening techniques do not provide patients with a phallus suitable for sexual intercourse. Genital dissatisfaction can lead to low self-esteem and psychosexual dysfunction. Therefore, phalloplasty, the gold standard in transgender surgery, may provide a possibility to achieve a satisfactory genital...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Callens N, Hoebeke P Tags: Endocr Dev Source Type: research
Rare diseases research and practice.
Abstract
Rare diseases (RDs) affect less than 5 per 10,000 individuals in Europe, while in the USA a rare condition is considered to have a prevalence of fewer than 200,000 affected Americans. RDs stem as one of the most urgent and emerging health problems worldwide, creating a substantial personal, community and financial burden globally. However, available data are only declared on the basis of hearsay evidence, in the absence of strong methodological supports. Creation and implementation of international and national registries could allow the achievement of more reliable data. Disorders of sex developm...
Source: Endocrine Development - September 25, 2014 Category: Endocrinology Authors: Polizzi A, Balsamo A, Bal MO, Taruscio D Tags: Endocr Dev Source Type: research
