Analysis of Clinical Features of 5α-Reductase Type 2 Deficiency with Central Precocious Puberty
10.13471/j.cnki.j.sun.yat-sen.univ（med.sci）.2025.0618
- VernacularTitle:2型5α还原酶缺乏症合并中枢性性早熟的临床特征分析
- Author:
Bing WANG
1
;
Qiuli CHEN
1
;
Song GUO
1
;
Rujiang ZHENG
1
;
Huangmeng XIAO
1
;
Huamei MA
1
;
Yanhong LI
1
;
Jun ZHANG
1
Author Information
1. Department of Pediatrics， The First Affiliated Hospital of Sun Yat-sen University，Guangzhou 510080， China
- Publication Type:Journal Article
- Keywords:
5α-reductase type 2 deficiency;
central precocious puberty;
obesity;
overweight;
disorders of sex development
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2025;46(6):1079-1086
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo sum up the clinical features of 5α-reductase type 2 deficiency （5α-RD2） complicated by central precocious puberty （CPP）， and provide experience for clinicians. MethodsA retrospective review was conducted of child patients with 5α-RD2 followed up to puberty at a single tertiary pediatric center， in whom 6 cases developed CRP. Clinical characteristics and treatment history of them were analyzed. A literature review was also performed to investigate possible mechanisms underlying the co-occurrence of 5α-RD2 and CPP. ResultsThe median age at initial presentation was 5.55 years （IQR 3.50-7.20）. Common clinical features included micropenis and hypospadias. Median stretched penile length （SPL） was 2.25 cm （IQR 1.8-2.8）， with an SPL-SDS of -4.5 （IQR -3.1 to -5.8）. Median external masculinization score （EMS） and Prader scores were 8.5 （IQR 5.0-9.0） and 4.5 （IQR 3.0-5.0）， respectively. Pubertal onset occurred at a median age of 8.70 years （IQR 7.80-9.00）. Three patients were overweight or obese. Five had received 2.5% dihydrotestosterone （DHT） gel prior to pubertal onset， with a median cumulative dose of 205.5 mg/kg （IQR 72.0-660.3 mg/kg） with DHT gel therapy. Notably， one patient with normal body mass index （BMI） and no history of androgen or gonadotropin therapy also exhibited early pubertal onset at 8.4 years. ConclusionCPP in children with 5α-RD2 may be associated with prior dihydrotestosterone （DHT） gel therapy and elevated BMI； however， a potential intrinsic link to the underlying disorder cannot be excluded. Further studies are needed to elucidate the pathophysiological mechanisms.
