hrp0097p2-39 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A Case Report of a 10-Year-Old Girl with Pituitary Abscess

Yoshida Aya , Oyachi Maki , Yamaguchi Naoya , Suzuki Atsushi , Aoyama Kohei

Background: Pituitary abscess is a rare disorder, representing less than 1% of pituitary lesions. Preoperative diagnosis is often difficult due to non-specific symptoms and image findings.Case Report: Here, we report the case of a 10-year-old girl with a pituitary abscess. She presented with polyuria and polydipsia and headache for the past year. Magnetic resonance imaging revealed polycystic lesion in the sella turcica ...

hrp0092p3-173 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Case of Wiedemann–Steiner Syndrome with Central Precocious Puberty

Aoyama Kohei , Yoshida Aya , Yamaguchi Naoya , Suzuki Atsushi , Tanaka Tatsushi , Saitoh Shinji , Mizuno Haruo

Background: Wiedemann–Steiner syndrome (WSS) is a rare autosomal dominant disorder characterized with hypertrichosis cubiti, dysmorphic facial appearance (hypertelorism, thick eyebrows, and narrow palpebral fissures), psychomotor delay, and short stature. WSS is caused by a mutation in the KMT2A gene. The timing of secondary sexual characteristics in patients with WSS is not well known. To our knowledge, two patients (one boy and one girl) with W...

hrp0097p2-100 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Diverse Phenotypes of Three Cases of Partial Androgen Insensitivity Syndrome with Androgen Receptor Gene Variants

Aoyama Kohei , Oyachi Maki , Yoshida Aya , Yamaguchi Naoya , Suzuki Atsushi , Mizuno Haruo , Saitoh Shinji

Background: Partial Androgen Insensitivity Syndrome (PAIS) is characterized by varying degrees of masculinization defects due to impaired androgen action, resulting in a wide range of physical and psychological phenotypes.Case 1: 18-year-old with a male social gender. The patient presented with hypospadias, micropenis, and cryptorchidism during the neonatal period, and received testosterone therapy during infancy, but sh...