JCRPE Journal of Clinical Research in Pediatric Endocrinology This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism
J Clin Res Pediatr Endocrinol. 2024 Apr 22. doi: 10.4274/jcrpe.galenos.2024.2023-12-1. Online ahead of print.ABSTRACTIGSF1 mutation is the commonest cause of mild to moderate isolated central congenital hypothyroidism and has an X-linked recessive inheritance, primarily affecting males. Other notable clinical features are macroorchidism with delayed pubertal testosterone rise, large birth weight, increased body mass index, low prolactin, transient growth hormone deficiency and low prolactin. Two male siblings with central hypothyroidism were found to have a novel IGSF1 c.3467T>A variant that was likely pathogenic based ...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 22, 2024 Category: Endocrinology Authors: Yee Lin Lee Tzer Hwu Ting Chong Teik Lim Karuppiah Thilakavathy Nurul Huda Musa King Hwa Ling Source Type: research

Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome
We present a 6.5-year-old girl, who was first admitted to our department with short stature. On follow up, she exhibited multiple endocrinological issues, including transient hypothyroidism, primary hypoparathyroidism and dysautonomia, along with multisystem involvement. Further investigations revealed recurrent moniliasis, low IgM levels, and transient monosomy 7 in the bone marrow. Whole exome sequencing revealed a heterozygous pathogenic variant of SAMD9 (c.2159del; p.Asn720ThrfsTer35). Additional complications observed during follow-up included medullary nephrocalcinosis, hypomagnesemia, hypermagnesiuria, hypophosphate...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - March 26, 2024 Category: Endocrinology Authors: Sirmen K ızılcan Çetin Elif Özsu Zeynep Şıklar Hasan Fatih Çakmaklı Gizem Şenyazar Zehra Aycan Serdar Ceylaner Merih Berbero ğlu Source Type: research