hrp0095p1-573 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Long-term follow-up of DHH variant-caused 46, XY disorders of sex development with multiple complications in a Chinese Child

Pan Lili , Li Zuoguang , Su Zhe

Background: The Hedgehog (HH) family plays an important role in the development, proliferation and homeostasis in various tissues and organs. Desert hedgehog(DHH), as a member of this family, is mainly involved in the normal development of testis and the formation of nerve sheath. DHH variation mainly causes 46, XY disorders of sex development (DSD) with or without minifascicular neuropathy(MN). Up to date, only 22 affected patients in detail have bee...

hrp0089p3-p359 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Long-Term Follow-up in a Chinese Child with Lipoid Congenital Adrenal Hyperplasiadue to STARmutation

Zhao Xiu , Liu Xia , Wang Li , Pan Lili , Zhang Longjiang , Su Zhe

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe and extremely rare form of congenital adrenal hyperplasia (CAH). The typical features include 46, XY disorder of sex development (DSD), early-onset adrenal crisis and enlarged adrenal with fatty accumulation. We reported a case of congenital lipoid adrenal hyperplasia (CLAH) caused by steroidogenic acute regulatory protein (STAR) gene mutation. The patient had typical early-onset adrenal crisis at the age of 2 mon...

hrp0089p3-p360 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

46,XY Gonadal Dysgenesis Accompanied by Neuropathy Caused by a DHH Mutation

Su Zhe , Pan Lili , Wang Li , Chen Weiyan , Song Jianming , Li Shoulin

Objectives: To summarize the clinical manifestations of a patient of 46,XY partial gonadal dysgenesis (PGD) accompanied by neuropathy. This is the first reported case of DHH mutation from China.Methods: We retrospectively reviewed the case and summarized the clinical history, physical examinations, laboratory and genetics tests, electromyography, ultrasound, surgical exploration and histopathology results.Results: The 14.3-year-old...

hrp0095p1-205 | Adrenals and HPA Axis | ESPE2022

Exploring the growth curves of 248 Chinese patients aged 0-3 years with salt-wasting 21-hydroxylase deficiency

Li Yingying , Fan Xin , Wang Yirou , Zhao Xiu , Pan Lili , Yu Yuting , Gong Gong Chunxiu , Su Zhe

Background: To construct the growth curves of body length and weight for Chinese patients from birth to 3 years with salt-wasting 21-hydroxylase deficiency (SW 21-OHD), changes in body mass index (BMI) will also be described, so as to explore the growth pattern of these special patients and guide the monitoring of early growth.Methods: The body length and weight data of SW 21-OHD patients aged 0-3 years who visited in 4 ...