Turner syndrome masquerading as normal early puberty

Hong, Yong Hee; Shin, Young-Lim

doi:10.6065/apem.2014.19.4.225

Cited by 8 publications

(7 citation statements)

References 17 publications

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“…The treatments of the patients with TS and RPPP have also been different. One patient did not have any treatment; three patients had GnRHa and six patients were treated with GnRHa+GH treatment (6)(7)(8)(9)(10)(11)(12)(13)(14). There is no data on two patients (5,14).…”

Section: Discussionmentioning

confidence: 99%

“…Rapidly progressive precocious puberty (RPPP) has been reported in only 12 patients with TS so far. The karyotype, age of pubertal onset, Tanner stage at diagnosis, midparental height, coexistence of short stature, or other features of TS were variable in these cases, but most of them had gonadotropinreleasing hormone analog (GnRHa) treatment with or without growth hormone (GH) therapy in order to avoid short adult height (5)(6)(7)(8)(9)(10)(11)(12)(13)(14). We report here a case of TS with a 45,X/46,XX karyotype, who had a pubertal onset at the age of 8 years but progressing rapidly in the follow-up period and the results of the treatments including anti-Mullerian hormone (AMH) level which has not been previously discussed in previous cases.…”

Section: Introductionmentioning

confidence: 99%

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Management of Rapidly Progressive Precocious Puberty in a Patient with Mosaic Turner Syndrome

et al. 2021

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Management of Rapidly Progressive Precocious Puberty in a Patient with Mosaic Turner Syndrome

et al. 2021

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“…8 Secondary sexual characteristics were described in accordance with Tanner's stages. 9 Malformations identified through complementary imaging examinations and expert assessments were classified according to the body system involved.…”

Section: Methodsmentioning

confidence: 99%

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

Nunes¹,

Pereira²,

Correia³

et al. 2021

Sao Paulo Med. J.

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BACKGROUND: Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN AND SETTING: Retrospective cross-sectional study conducted in two clinical genetics services in Porto Alegre (RS), Brazil. METHODS: The sample consisted of 59 patients with TS diagnosed from 1993 to 2019. A review of their medical records was performed and a standard protocol was filled out. RESULTS: The average age of the patients at diagnosis was 15.9 years, and 40.7% were over 13 years old. The largest proportion of them (42.4%) had been referred from an endocrinology department and their constitution was 45,X (40.7%). The most common clinical findings were short stature (85.7%), hypoplastic/ hyperconvex nails (61.2%), low posterior hairline (52.1%) and cubitus valgus (45.8%). There was no difference regarding the presence of short stature (P = 0.5943), number of dysmorphia (P = 0.143), anatomical regions affected and malformations identified through imaging examinations (P = 1.0000), regarding the presence or absence of 45,X constitution. Only 6% of the patients had used growth hormone and 43%, estrogen. CONCLUSION: We found that, in general, patients with TS were being diagnosed late. This has important implications for their treatment. In addition, only a small proportion of the patients were undergoing further examination or evaluation, which appeared to be leading to underdiagnosis of many abnormalities.

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“…Where an X chromosome is completely or partly missing, the condition may be associated with other anomalies due to SHOX haploinsufficiency ( 30 ). Diagnosis can occur prenatally, in newborns with lymphedema, in small children with short stature, at school age when associated with delayed puberty or, in rare cases, precocious puberty ( 32 ), or in adolescents with primary amenorrhea.…”

Section: Diagnosis and Referral For Non-gh Deficiency Disordersmentioning

confidence: 99%

Short Stature Diagnosis and Referral

et al. 2018

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The “360° GH in Europe” meeting, which examined various aspects of GH diseases, was held in Lisbon, Portugal, in June 2016. The Merck KGaA (Germany) funded meeting comprised three sessions entitled “ Short Stature Diagnosis and Referral ,” “ Optimizing Patient Management ,” and “ Managing Transition .” Each session had three speaker presentations, followed by a discussion period, and is reported as a manuscript, authored by the speakers. The first session examined current processes of diagnosis and referral by endocrine specialists for pediatric patients with short stature. Requirements for referral vary widely, by country and by patient characteristics such as age. A balance must be made to ensure eligible patients get referred while healthcare systems are not over-burdened by excessive referrals. Late referral and diagnosis of non-GH deficiency conditions can result in increased morbidity and mortality. The consequent delays in making a diagnosis may compromise the effectiveness of GH treatment. Algorithms for growth monitoring and evaluation of skeletal disproportions can improve identification of non-GH deficiency conditions. Performance and validation of guidelines for diagnosis of GH deficiency have not been sufficiently tested. Provocative tests for investigation of GH deficiency remain equivocal, with insufficient information on variations due to patient characteristics, and cutoff values for definition differ not only by country but also by the assay used. When referring and diagnosing causes of short stature in pediatric patients, clinicians need to rely on many factors, but the most essential is clinical experience.

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Turner syndrome masquerading as normal early puberty

Cited by 8 publications

References 17 publications

Management of Rapidly Progressive Precocious Puberty in a Patient with Mosaic Turner Syndrome

Management of Rapidly Progressive Precocious Puberty in a Patient with Mosaic Turner Syndrome

Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study

Short Stature Diagnosis and Referral

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