Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth

Bertelloni, Silvano; Baroncelli, Giampiero I.; Massart, Francesco; Toschi, Benedetta

doi:10.1159/000441342

Cited by 15 publications

(12 citation statements)

References 38 publications

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“…For example, no data are available on the prevalence and extent of catch-up growth in children with atypical genitalia who were born small for gestational age. In individuals with 45X/46XY karyotypes, growth hormone treatment has variable effects and may need to be optimised (36,37). Age at start of puberty induction and dosing of sex steroids may affect the growth pattern and body proportions (38).…”

Section: Anthropometric Data Body Composition and Bone Healthmentioning

confidence: 99%

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet

Flück

Nordenström

Ahmed

et al. 2019

European Journal of Endocrinology

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The treatment and care of individuals who have a difference of sex development (DSD) have been revised over the past two decades and new guidelines have been published. In order to study the impact of treatments and new forms of management in these rare and heterogeneous conditions, standardised assessment procedures across centres are needed. Diagnostic work-up and detailed genital phenotyping are crucial at first assessment. DSDs may affect general health, have associated features or lead to comorbidities which may only be observed through lifelong follow-up. The impact of medical treatments and surgical (non-) interventions warrants special attention in the context of critical review of current and future care. It is equally important to explore gender development early and refer to specialised services if needed. DSDs and the medical, psychological, cultural and familial ways of dealing with it may affect self-perception, self-esteem, and psychosexual function. Therefore, psychosocial support has become one of the cornerstones in the multidisciplinary management of DSD, but its impact remains to be assessed. Careful clinical evaluation and pooled data reporting in a global DSD registry will allow linking genetic, metabolomic, phenotypic and psychological data. For this purpose, our group of clinical experts and patient and parent representatives designed a template for structured longitudinal follow-up. In this paper, we explain the rationale behind the selection of the dataset. This tool provides guidance to professionals caring for individuals with a DSD and their families. At the same time, it collects the data needed for answering unsolved questions of patients, clinicians, and researchers. Ultimately, outcomes for defined subgroups of rare DSD conditions should be studied through large collaborative endeavours using a common protocol.

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Section: Anthropometric Data Body Composition and Bone Healthmentioning

confidence: 99%

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet

Flück

Nordenström

Ahmed

et al. 2019

European Journal of Endocrinology

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“…The wide spectrum of phenotypes in these patients is also reflected in health outcomes such as growth, gonadal function, risk of gonadal neoplasia and comorbidities that are all reported with varying incidences and severities both within the same centers and between centers (5,7,10,(13)(14)(15)(16).…”

Section: Introductionmentioning

confidence: 99%

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis

Ljubicic

Jørgensen

Acerini

et al. 2019

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context Larger studies on outcomes in males with 45,X/46,XY mosaicism are rare. Objective To compare health outcomes in males with 45,X/46,XY diagnosed as a result of either genital abnormalities at birth or nongenital reasons later in life. Design A retrospective, multicenter study. Setting Sixteen tertiary centers. Patients or Other Participants Sixty-three males older than 13 years with 45,X/46,XY mosaicism. Main Outcome Measures Health outcomes, such as genital phenotype, gonadal function, growth, comorbidities, fertility, and gonadal histology, including risk of neoplasia. Results Thirty-five patients were in the genital group and 28 in the nongenital. Eighty percent of all patients experienced spontaneous pubertal onset, significantly more in the nongenital group (P = 0.023). Patients were significantly shorter in the genital group with median adult heights of 156.7 cm and 164.5 cm, respectively (P = 0.016). Twenty-seven percent of patients received recombinant human GH. Forty-four patients had gonadal histology evaluated. Germ cells were detected in 42%. Neoplasia in situ was found in five patients. Twenty-five percent had focal spermatogenesis, and another 25.0% had arrested spermatogenesis. Fourteen out of 17 (82%) with semen analyses were azoospermic; three had motile sperm. Conclusion Patients diagnosed as a result of genital abnormalities have poorer health outcomes than those diagnosed as a result of nongenital reasons. Most patients, however, have relatively good endocrine gonadal function, but most are also short statured. Patients have a risk of gonadal neoplasia, and most are azoospermic, but almost one-half of patients has germ cells present histologically and up to one-quarter has focal spermatogenesis, providing hope for fertility treatment options.

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“…Lindhardt et al 3 reported increasing HSDS after 1 year of GH therapy. But, the results of long‐term studies are conflicting 4,5,17,18 In our cohort, 10 patients were treated with GH, and 8 were female. AHSDS was similar in GH‐treated and GH‐untreated groups.…”

Section: Discussionmentioning

confidence: 85%

Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism

Poyrazoğlu

Baş

Karaman

et al. 2021

Clinical Endocrinology

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Sex development is controlled genetically. Disorders of sex development (DSD) are caused by sex chromosome abnormalities or pathogenic variants in certain genes impairing the sex differentiation. In the aetiology of DSD, the mosaicism of 45, X and 46, XY or variants, often called 'mixed gonadal dysgenesis' (MGD), plays an important role and is seen with an incidence of one in 15,000 live births. 1,2 The mosaicism occurs due to the loss of Y chromosome in male embryos in post-zygotic mitotic divisions. The timing of the loss of

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Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth

Cited by 15 publications

References 38 publications

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet

Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet

Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis

Growth and relationship of phenotypic characteristics with gonadal pathology and tumour risk in patients with 45, X/46, XY mosaicism

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