Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of
disorders of sex development (DSD). Recently, we reported the use of a targeted gene …

Objective The objective of this study was to determine the aetiological spectrum of disorders
of sex development (DSD) in a large cohort of underprivileged and undiagnosed patients …

Objective Indonesia has overcome several barriers to the growth of kidney transplantation
within the past decade. Currently, the procedure is increasingly performed in several centers …

Background: Complete androgen insensitivity syndrome (CAIS) is a congenital condition
caused by genetic defects in the androgen receptor (AR) gene located on the X …

Disorder of sex development (DSD) patients in Indonesia most often do not receive a proper
diagnostic evaluation and treatment. This study intended to categorize 88 Indonesian …

Background: Disorder of sex development (DSD) patients require comprehensive
management to improve quality of life. A standardized management protocol for patients in …

Background: Hypospadia is believed to be a multifactorial disease. The risk factors that may
induce the formation of hypospadias are environmental factors, endocrine disruptors, and …

Aims Caucasian patients with disorders of sex development (DSD) are at a high risk of
developing germ cell cancer (GCC). GCC is prominent in young adults in Western countries …

Background: Our Multidisciplinary Team (MDT) is a large specialized team based in
Semarang, Indonesia that cares for a wide variety of pediatric and adult individuals with …

Context Variants in bone morphogenetic protein 7 (BMP7) have been reported in patients
with hypospadias. Here we report and analyze two variants in the BMP7 prodomain in …