ESPE Abstracts

Background: Acrodysostosis is a rare skeletal dysplasia with severe brachydactyly, facial dysostosis and nasal hypoplasia. Some patients show hormone resistance whose phenotypes are similar to pseudohypoparathyroidism (PHP). In 2012, PRKAR1A gene was identified as one of the responsible genes of Acrodysostosis with hormonal resistance (ADOHR). Generally, brachydactyly is severe and hormone resistance is mild in Acrodysostosis patients.Objective and hypot...

Background: Individuals with a mixed 46,XX and XY karyotype, categorized as ovotesticular disorder of sexual development (ODSD), have gonads with either an ovary in one side and a testis in the other side or an ovotestis.Objective and hypotheses: This study aimed to investigate the relationship between sex chromosomes and testicular and ovarian cell types in gonadal tissues associated with ODSD patients with 46,XX/46,XY.Method: Gon...

Background: Reference values for penile length have not been established for Japanese boys.Objective: We aimed to develop percentiles and means with standard deviations of stretched penile length (SPL) in Japanese boys.Method: We conducted a cross-sectional study in 1 628 Japanese boys aged <9 years from 2007 through 2014. The LMS method was used to develop a growth reference and chart for SPL in boys aged 0–7 years. Inter...

Introduction: The Sonic hedgehog (SHH) signaling pathway plays a crucial role in development of the forebrain and pituitary. Mutations in SHH signaling related genes are well known to be the cause of Holoprosencephaly (HPE), which results from developmental field defect or impaired midline cleavage of the embryonic forebrain, and is frequently associated with hypopituitarism. This study aimed to define the prevalence of congenital hypopituitarism (CH) in terms...

Background: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by defect in adrenal and gonadal steroidogenesis and lipid droplet accumulation in steroidogenic cells. 46,XY patients with classic LCAH typically present with female-type external genitalia, while those with nonclassic LCAH have masculinized external genitalia. The rarity of the nonclassic form precludes the clarification of pubertal and reproduc...

Background: Fetal-derived androgen excess, such as 21-hydroxylase deficiency (21-OHD), is a major cause of 46,XX disorders of sex development (DSD), but there are rarely is due to maternal androgen excess such as that caused by adrenal tumors or luteoma.Recently, in addition to the classical androgen synthesis pathway, the alternative androgen synthesis by backdoor pathway and 11-oxygenated steroids has been reported for virilization of female patients with 21...

Background: Monostotic Fibrous Dysplasia (MFD) is thought to be caused by somatic mosaic activating mutations in GNAS. However, previous GNAS mutation analyses of MFD patients using direct sequencing of bone samples detected activating GNAS mutations only in 21 of 40 cases (52.5%) (Hum Pathol 2012; 43: 1234). We reported that next generation sequencing (NGS) detected somatic activating GNAS mutations sensitively from peripheral bloo...

Background: Mutations in HESX1, SOX3 responsible for combined pituitary hormone deficiency (CPHD) have been identified in a small number of hypogonadotropic hypogonadism (HH), suggesting that the genetic overlap between CPHD and HH.Case presentation: A 2-month-old boy was referred because of micropenis (stretched penile length 1.0 cm) with intrascrotal testes (1 ml). Hormone assays revealed very-low plasma testosterone levels (0.06 ng/m...

Background: The MC2R gene (MC2R) encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalized hyperpigmentation at birth.Objective and hypotheses: The MC2R encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalised hyperpigmentat...

Background: GLI2 is a transcription factor in Sonic Hedgehog signaling and implicated in ventral forebrain and pituitary development. GLI2 mutations were reported not only in patients with holoprosencephaly but also in patients with pituitary hormone deficiencies without holoprosencephaly. Other phenotypes of GLI2 mutations are midline facial defects, cleft hands and feet, and polydactyly. We report two patients with combined pituitary hormone defici...