Optic nerve hypoplasia with hypopituitarism and intact septum pellucidum is a variant of septo-optic dysplasia or deMorsier's syndrome.' Although neonatal jaundice has been seen with this syndrome, the association with severe prolonged cholestatic jaundice has not been emphasised. We describe three patients who presented with cholestatic jaundice and were found to have optic nerve hypoplasia an...

INTRODUCTION Micropenis may be an important sign of underlying hypogonadism or pituitary hypofunction in the neonatal period. Penile lengths of normal newborns have been reported in many Western populations. However, the data may not be applicable in the Asian or the multiracial Malaysian population. Our study aimed to establish the normal penile length and testicular volume in term newborn inf...

A patient is described with a new association of microphthalmia, single central incisor, and hypopituitarism believed to represent a holoprosencephaly malformation. In view of the genetic ramifications of this malformation and its variable manifestations, we would like to alert the clinician to consider holoprosencephaly whenever midline malformations are detected.

This study used mouse models to investigate the role of LIM homeodomain transcription factor Isl1 in pituitary development. It reveals that has multiple, critical roles gland Pituitary-specific deletion caused hypopituitarism with increased stem cell apoptosis, reduced both differentiation thyrotropes and gonadotropes body size, even promoted development multiple Rathke’s cleft-like cysts.

decreased level of consciousness in neonates may result from different etiologies, including rare metabolic and hormonal disorder due to anterior pituitary insufficiency. in this case report, a five-day-old newborn boy was referred to the neonatal intensive care unit of mustafa khomeini hospital of ilam, iran. he had an open anterior fontanel with no history of prenatal and familial diseases. c...

conclusions this case highlights the fact that fhr and ghd may coexist, with possible masking effect of one on the other, thereby misleading the approach, posing large impacts on therapy, which has historically been a difficult challenge in fhr patients. introduction coincided familial hypophosphatemic rickets (fhr) and hypopituitarism is a rare condition. growth hormone deficiency (ghd) evalua...

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline defects of development resulting from unknown factor(s) operating in utero about the 35th-38th day(s) from conception. It is estimated to occur in 1:50,000 live births. Aetiology is uncertain. Missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI. The ...

Human pluripotent stem cells (hPSCs) provide an unlimited cell source for regenerative medicine. Hormone-producing cells are particularly suitable for cell therapy, and hypopituitarism, a defect in pituitary gland function, represents a promising therapeutic target. Previous studies have derived pituitary lineages from mouse and human ESCs using 3D organoid cultures that mimic the complex event...

Objective. To report the prestimulation use of adjuvant GH for gonadotropin ovulation induction in a woman with hypopituitarism and GH deficiency who previously failed to respond. Design, Patients, and Measurements. A 31-year-old nulliparous woman presented with hypopituitarism and GH deficiency after failing ovulation induction with high dose gonadotropins. A trial of GH was undertaken for 5 m...