An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Schaeffer, Traci; Tryggestad, Jeanie B.; Mallappa, Ashwini; Hanna, Adam E; Krishnan, Sowmya; Chernausek, Steven D.; Chalmers, Laura; Reiner, William G.; Kropp, Brad; Wisniewski, Amy B.

doi:10.1155/2010/692439

Cited by 18 publications

(11 citation statements)

References 63 publications

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“…Apart from economical limitations and practical hurdles, training of staff with respect to the acquisition of knowledge, as well as communication skills, is an ongoing endeavour 159 . Examples that outline the role of team members as well as team responsibilities are available 28,160 . Developing networks of peers who have received specific training and who can be included in the multidisciplinary team can enrich the decisionmaking process with a (so far) under-represented and much broader perspective.…”

Section: Discussionmentioning

confidence: 99%

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

et al. 2018

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The term differences of sex development (DSDs; also known as disorders of sex development) refers to a heterogeneous group of congenital conditions affecting human sex determination and differentiation. Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of nomenclature and management a decade ago. Whereas the resulting recommendations for holistic, multidisciplinary care seem to have been implemented rapidly in specialized paediatric services around the world, adolescents often experience difficulties in finding access to expert adult care and gradually or abruptly cease medical follow-up. Many adults with a DSD have health-related questions that remain unanswered owing to a lack of evidence pertaining to the natural evolution of the various conditions in later life stages. This Consensus Statement, developed by a European multidisciplinary group of experts, including patient representatives, summarizes evidence-based and experience-based recommendations for lifelong care and data collection in individuals with a DSD across ages and highlights clinical research priorities. By doing so, we hope to contribute to improving understanding and management of these conditions by involved medical professionals. In addition, we hope to give impetus to multicentre studies that will shed light on outcomes and comorbidities of DSD conditions across the lifespan.

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Section: Discussionmentioning

confidence: 99%

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

et al. 2018

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“…18 It has been recommended that male patients with CAH should be screened for TART from puberty, with either annual ultrasound of the testes, 10 semen analysis 19 or palpation of the testes. 20 It has also been suggested that male patients with CAH be counselled from an early age about potential infertility and, if appropriate, be offered cryopreservation of semen. 1 In conclusion, TART must be considered in men with CAH, especially in those presenting with infertility.…”

Section: Discussionmentioning

confidence: 99%

Hypergonadotrophic hypogonadism due to testicular adrenal rest tumours presenting with hypogonadotrophic hypergonadism

Ashby

Gama²,

Sur

et al. 2012

Ann Clin Biochem

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Primary testicular failure is characterized by low serum testosterone with appropriately high serum gonadotrophins, that is hypergonadotrophic hypogonadism. We report on a 27-year-old man with congenital adrenal hyperplasia (CAH) and infertility due to testicular adrenal rest rumours (TART) resulting in primary testicular failure but presenting with azoospermia, elevated serum testosterone and very low serum gonadotrophins. Hypergonadotrophic hypogonadism was unmasked by increasing glucocorticoid dosage. It is important to recognise the limitations of follicle-stimulating hormone, luteinising hormone and testosterone in assessing testicular function in men with CAH. Abnormal semen analysis may be the best indicator of testicular dysfunction in men with CAH.

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“…The best way to approach DSD is through a multidisciplinary team, which includes a neonatologist, endocrinologist, pediatric surgeon, psychologist and other ad hoc members (7). The first step is to counsel the shocked parents, as the birth of a baby with ambiguous genitalia is unexpected for both parents and the medical team.…”

Section: Multidisciplinary Teammentioning

confidence: 99%

“…The time for repair with feminizing genitoplasty, which include clitoroplasty, labioplasty and vaginoplasty is not well defined; most surgeons prefer early surgery in infancy and in a specialized center for patients with significant virilization (Prader 3 or higher) (19,56,7). Studies reported that early surgery may improve the relationship between children and their parents and relieve parental distress (57)(58)(59).…”

Section: Surgical Managementmentioning

confidence: 99%

Clinical Approach for Evaluation and Manage¬ment of Disorders of Sex Development

Attia

2017

J Current Med Res Opinion

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"It's a boy" and "It's a girl" are words that are heard every second of every day all around the world. However, it is very distressing when the birth attendants are unable to make such a pronouncement because of disorders of sex development (DSD). DSD are congenital conditions associated with an atypical development of chromosomal, gonadal or anatomical sex. Normal sex development progresses in steps from conception to the complete development of the fetal external genitalia; any disturbance in any of these steps can lead to DSD. Ambiguous genitalia are the most common type of DSD and it is a challenging clinical diagnosis for the pediatric endocrinologist. A newborn baby with ambiguous genitalia is often a surprise for both the medical team and the parents, frequently described as an emergency. The condition needs a special approach in terms of counseling the parents appropriately, evaluation and management. The Chicago Conference (2006) recommended new nomenclature and a classification for DSD, as the old nomenclature was confusing for doctors and parents, and sometimes pejorative. The new classification is based on karyotyping and gonadal structure, improving understanding of the underlying pathogenic mechanisms. The rapid progression of genetic diagnosis of DSD using advanced techniques such as next-generation sequencing (NGS) allows more appropriate diagnosis and genetic counseling for families. The focus of the article is a review of normal sex development, DSD classification, clinical approach, genetic assessment, sex assignment, surgical management and risk of germ cell tumor development.

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An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Cited by 18 publications

References 63 publications

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

Hypergonadotrophic hypogonadism due to testicular adrenal rest tumours presenting with hypogonadotrophic hypergonadism

Clinical Approach for Evaluation and Manage¬ment of Disorders of Sex Development

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