Neonatal Hypopituitarism: Approaches to Diagnosis and Treatment

Kurtoğlu, Selim; Özdemır, Ahmet; Hatipoğlu, Nihal

doi:10.4274/jcrpe.galenos.2018.2018.0036

Cited by 23 publications

(45 citation statements)

References 80 publications

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“…However, the mutations in GLI2 are rarely associated with an HPE phenotype(7,12). Indeed, in the study of Bear et al(5) only three of the 112 (2.7%) patients with GLI2 mutations, had HPE(13). Also, neuroanatomical anomalies, such as agenesis of the corpus callosum, abnormal cerebral periventricular venous system and abnormal gyri have been reported in patients with GLI2 mutations(8,14,15,16,17).…”

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confidence: 99%

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the <i>GLI2</i> Gene

Demiral¹,

Demirbilek²,

Ünal³

et al. 2020

Jcrpe

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A novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in the GLI2 gene is reported. There was an extremely distinct phenotypical expression in two siblings and their father. The index case was a boy who developed cholestasis and hypoglycaemia in the neonatal period. He had bilateral postaxial polydactyly, mid-facial hypoplasia, high palatal arch, micropenis, and bilateral cryptorchidism. Laboratory examination revealed a diagnosis of multiple pituitary hormone deficiency. There was severe anterior pituitary hypoplasia, absent pituitary stalk and ectopic posterior pituitary on magnetic resonance imaging which suggested pituitary stalk interruption syndrome with no other midline structural abnormality. Molecular genetic analysis revealed a novel heterozygous splicing IVS11-2A>C(c.1957-2A>C) mutation detected in the GLI2 gene. His father and a six-year-old brother with the identical mutation also had unilateral postaxial polydactyly and mid-facial hypoplasia although there was no pituitary hormone deficiency. This novel heterozygous GLI2 mutation detected appears to present with an extremely variable clinical phenotype, even in related individuals with an identical mutation, suggesting incomplete penetrance of this GLI2 mutation.

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confidence: 99%

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the <i>GLI2</i> Gene

Demiral¹,

Demirbilek²,

Ünal³

et al. 2020

Jcrpe

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“…Lastly, an ectopic pituitary is a very rare condition but is a common cause of pediatric growth hormone deficiency, the likely diagnosis for this patient [ 19 , 20 ]. The short stature and feminine facial features which were first noted during our patient's teenage years likely represent early evidence of hypopituitarism as a result of PES and ectopic posterior pituitary [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

PES Syndrome Presenting as Severe Hyponatremia in an Asymptomatic Septuagenarian

Pansare

Nanthabalan

2021

Case Reports in Endocrinology

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Background. Hyponatremia is commonly seen in hospitalized patients. In euvolemic individuals, syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common differential. However, before establishing a diagnosis of SIADH, it is imperative to evaluate for hypocortisolism and hypothyroidism. The finding of endocrine abnormalities determined to be of pituitary origin should prompt evaluation by brain MRI. Furthermore, primary empty sella (PES) is commonly seen as an incidental neuroradiological finding. However, PES in association with endocrine abnormalities is recognized as a separate entity called primary empty sella syndrome (PESS). Case Presentation. We report the case of a 71-year-old male sans neurological symptoms who presented to us with severe hyponatremia in whom we used a stepwise approach which led us to the diagnosis of PESS. This methodical approach was crucial for timely correction of the endocrine abnormalities which in turn rectified hyponatremia. Intriguingly, the presence of an ectopic pituitary which is a very rare entity and the sudden manifestation of his underlying endocrine deficiencies in the 8th decade of life make this clinical scenario highly unusual. Conclusion. Clinicians should be aware that absence of an orderly approach to workup presumed SIADH or an assumption of PES (instead of PESS) could both lead to serious consequences in the face of missed endocrine deficiencies.

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“…Hypogonadism itself can be confirmed during minipuberty of infancy, which occurs in boys up to age 6 months and in girls up to age 3 years [ 11 ]. Along with laboratory testing, MRI of the brain should be obtained to evaluate the morphology of the pituitary gland (including the presence of the posterior pituitary bright spot), corpus callosum, septum pellucidum, optic nerves, and optic chiasm [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

“…Infants with micropenis can be treated with a short course of testosterone in order to increase penile length. A dosing regimen of 25 mg IM, given every 3 or 4 weeks for three doses, has been successfully implemented [ 2 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

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Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination

Palorath

Kharode

2021

Case Reports in Pediatrics

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A newborn male infant was admitted to the neonatal intensive care unit due to suspected sepsis. He was clinically stable with normal electrolyte levels on admission. However, he was noted to have micropenis and bilateral nonpalpable testes. Ultrasound imaging confirmed the presence of both gonads in the inguinal canal, with no Müllerian structures visualized. Laboratory examination revealed an undetectable random plasma cortisol level; subsequent ACTH stimulation testing confirmed adrenal insufficiency. Further testing revealed additional pituitary hormone deficiencies, and the infant was started on multiple hormone replacement therapies. Magnetic resonance imaging identified absent septum pellucidum, pointing of the frontal horns, and optic nerve hypoplasia. A diagnosis of septo-optic dysplasia was made based on this combination of findings. This case highlights the importance of thorough physical examination in newborn infants, which may reveal the only sign of underlying pathology in the absence of other concerning findings.

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Neonatal Hypopituitarism: Approaches to Diagnosis and Treatment

Cited by 23 publications

References 80 publications

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the <i>GLI2</i> Gene

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the <i>GLI2</i> Gene

PES Syndrome Presenting as Severe Hyponatremia in an Asymptomatic Septuagenarian

Septo-Optic Dysplasia Diagnosed in a Newborn Infant with Normoglycemia: The Importance of Thorough Physical Examination

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