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J Community Genet. 2020 Apr;11(2):171-181. doi: 10.1007/s12687-019-00435-6. Epub 2019 Sep 4.
2
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Front Endocrinol (Lausanne). 2019 Jun 26;10:423. doi: 10.3389/fendo.2019.00423. eCollection 2019.
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J Clin Endocrinol Metab. 2018 Feb 1;103(2):649-659. doi: 10.1210/jc.2017-02147.
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Endocrinology. 2018 Jan 1;159(1):62-68. doi: 10.1210/en.2017-00300.
7
Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center.先天性低促性腺激素性性腺功能减退、功能性低促性腺激素血症还是体质性生长和青春期延迟?来自单一三级中心的大量患者系列分析。
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Puberty timing associated with diabetes, cardiovascular disease and also diverse health outcomes in men and women: the UK Biobank study.青春期时间与糖尿病、心血管疾病以及男性和女性的多种健康结局相关:英国生物银行研究
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金纳研究生医学中心内分泌门诊患者青春期延迟的临床谱及病因

Clinical Spectrum and Causes of Delayed Puberty Among Patients Presenting to the Endocrine Clinic at Jinnah Postgraduate Medical Centre.

作者信息

Zahra Fatima, Ahsan Tasnim, Lal Rehman Urooj, Jabeen Rakhshanda

机构信息

Medicine, Fazaia Ruth Pfau Medical College (FRPMC), Karachi, PAK.

Diabetes and Endocrinology, Medicell Institute of Diabetes Endocrinology & Metabolism, Karachi, PAK.

出版信息

Cureus. 2022 Jan 24;14(1):e21574. doi: 10.7759/cureus.21574. eCollection 2022 Jan.

DOI:10.7759/cureus.21574
PMID:35228933
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8866913/
Abstract

INTRODUCTION

It has been observed that 5% of adolescents are affected by pubertal timing disorders. However, there is limited data about this in Pakistan. This cross-sectional study aimed to observe the patterns and causes of delayed puberty (DP) among patients presenting at the endocrine clinic of a tertiary care hospital in Karachi.

METHODS

This observational study was conducted at the endocrine clinic of Jinnah Postgraduate Medical Centre (JPMC) Unit II from 2007 to 2015. A detailed history was obtained from patients presenting with DP. We noted the available demographic data, main complaints, and family history of DP. Physical examinations were performed and the data recorded. Tanner staging was used to assess pubertal development. Relevant laboratory and imaging investigations were performed; data analysis was performed using SPSS 17 (IBM Corp., Armonk, NY).

RESULTS

A total of 2670 patients were registered in the endocrine clinic during the study period, of which 171 presented with DP; 119 were males and 52 were females. There was a wide variation in age at presentation ranging from 10 to 32 years. The majority of patients presented with short stature - 69 (57.98%) males and 19 (36.53%) females. Small testes were present in 28 patients (23.52%); 19 (15.96%) males presented with absent secondary sexual characteristics and infertility was present in three (2.54%) males, primary amenorrhea was observed in 25 (48.07%), both primary amenorrhea and short stature were the presenting symptoms of five (9.61%), and failure of breast development was seen in three (5.76%) females. Constitutional delayed growth and puberty (CDGP) was diagnosed in 42 patients (24.6%). The definitive diagnosis of idiopathic hypogonadotropic hypogonadism (IHH) was made in 18 (10.5%) patients. In another 18 (10.5%) patients, we could not differentiate between CDGP and IHH. Functional hypogonadotropic hypogonadism (FHH) due to non-endocrine illness was present in 16 patients (9.4%). The cause of DP was hypogonadotropic hypogonadism in 33 (19.3%) patients whereas 44 patients presenting with DP could not be classified due to incomplete data.

CONCLUSION

This study showed that CDGP was the most common cause of DP in our patients with the most common presentation being short stature in males and amenorrhea in females. It is essential to differentiate CDGP in children from a small fraction of the pathological and treatable causes of DP.

摘要

引言

据观察,5%的青少年受到青春期发育时间紊乱的影响。然而,在巴基斯坦,关于这方面的数据有限。这项横断面研究旨在观察在卡拉奇一家三级护理医院内分泌门诊就诊的患者中青春期延迟(DP)的模式和原因。

方法

这项观察性研究于2007年至2015年在真纳研究生医学中心(JPMC)第二单元的内分泌门诊进行。从患有DP的患者那里获取了详细病史。我们记录了现有的人口统计学数据、主要症状以及DP的家族史。进行了体格检查并记录了数据。使用坦纳分期法评估青春期发育情况。进行了相关的实验室和影像学检查;使用SPSS 17(IBM公司,纽约州阿蒙克)进行数据分析。

结果

在研究期间,内分泌门诊共登记了2670名患者,其中171名患有DP;男性119名,女性52名。就诊年龄差异很大,从10岁到32岁不等。大多数患者表现为身材矮小——男性69名(57.98%),女性19名(36.53%)。28名患者(23.52%)睾丸较小;19名男性(15.96%)表现为继发性征缺失,3名男性(2.54%)存在不育问题,25名女性(48.07%)出现原发性闭经,5名女性(9.61%)同时出现原发性闭经和身材矮小,3名女性(5.76%)乳房发育不良。42名患者(24.6%)被诊断为体质性生长和青春期延迟(CDGP)。18名患者(10.5%)被确诊为特发性低促性腺激素性性腺功能减退(IHH)。另有18名患者(10.5%),我们无法区分CDGP和IHH。16名患者(9.4%)存在因非内分泌疾病导致的功能性低促性腺激素性性腺功能减退(FHH)。33名患者(19.3%)DP的病因是低促性腺激素性性腺功能减退,而44名患有DP的患者由于数据不完整无法分类。

结论

这项研究表明,在我们的患者中,CDGP是DP最常见的原因,最常见的表现是男性身材矮小和女性闭经。区分儿童中的CDGP与一小部分病理性且可治疗的DP病因至关重要。