Panhypopituitarism Clinical Presentation

  • Author: Robert P Hoffman, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: May 2, 2012
 

History

  • Congenital hypopituitarism
    • Suspect hypopituitarism in children with midline defects or optic atrophy (suggestive of septo-optic dysplasia)[10, 11] and in boys with micropenis (suggestive of gonadotropin deficiency).[12, 13]
    • Evaluate hypopituitarism prior to the development of overt problems due to hormonal deficiencies.
    • Infants with hypopituitarism without such abnormalities present in various ways. For example, children with severe growth hormone (GH) deficiency and adrenocorticotropic hormone (ACTH) deficiency may develop hypoglycemia, which leads to the diagnosis.
    • Another presentation is hypernatremic dehydration due to diabetes insipidus. Accompanying cortisol deficiency may obscure diabetes insipidus because cortisol is necessary to excrete a free water load.[14]
    • Some infants come to medical attention because of low thyroid hormone concentrations discovered on neonatal thyroid screen. Children with milder defects present with poor growth at varying ages. The symptoms include fatigue, dry skin, and constipation due to thyroid-stimulating hormone (TSH) deficiency and concomitant hypothyroidism and/or nausea, vomiting, and malaise due to ACTH and cortisol deficiency.
  • Acquired hypopituitarism
    • Similar to children with congenital hypopituitarism, many children with acquired hypopituitarism are identified before symptoms are observed.
    • Routinely evaluate pituitary function before and after treatment in children with craniopharyngiomas or other hypothalamic or pituitary tumors. The same is true for children who have received cranial irradiation (eg, before bone marrow transplant or for cranial tumors).
    • Children without a known hypothalamic or pituitary insult with hypopituitarism frequently present with growth failure because of GH deficiency. Some children come to medical attention because of abnormal thyroid function test results suggestive of central hypothyroidism.
    • Older children may present because of absent or interrupted puberty. Girls have primary or secondary amenorrhea.
    • Polyuria and polydipsia due to central diabetes insipidus may also be a presenting symptom.
    • Rarely, patients with ACTH deficiency may present with hyponatremia. This is not due to mineralocorticoid deficiency because aldosterone secretion is not primarily under pituitary control but is likely due to excess vasopressin release because (as mentioned above) cortisol helps the body excrete a free water load and circulating intravascular volume is depleted in cortisol deficiency.[14]
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Physical

  • Neonates
    • Evaluate a newborn with midline defects of the nose, lip, teeth, or mouth.
    • Evaluate the pituitary function in a newborn with nystagmus and optic nerve atrophy on funduscopic examination.
    • Hypogonadotrophism is suggested in the male with a small, normally shaped penis and small testes.
    • Hypopituitarism leading to ambiguous genitalia has been reported.
    • The child with hypoglycemia secondary to hypopituitarism is irritable, jittery, or lethargic. Seizures may be present.
  • Older children
    • The most common presenting feature suggestive of hypopituitarism is growth failure with decreased growth rate for age.
    • Examine optic disks for papilledema and visual fields for bilateral hemianopsia, a sign of optic chiasm compression. These findings quickly suggest the possibility of a craniopharyngioma, other pituitary tumor, or a hypothalamic tumor.
    • Assessing the child's sexual maturation is also important.
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Causes

  • Congenital hypopituitarism
    • Congenital midline defects, such as septo-optic dysplasia (de Morsier syndrome), midline facial clefts, or single central incisors, may be accompanied by varying anterior pituitary deficiencies.[11] Three fourths of individuals with optic nerve hypoplasia have hormonal abnormalities.[15]
    • Mutations in various genes have been demonstrated to cause congenital pituitary abnormalities in HESX1, LHX3, LHX4, PROP1, and POU1F1 (formerly known as PIT1) , with varying combinations of one or more hormonal abnormalities with or without anatomic abnormalities. These homeobox genes code various pituitary transcription factors responsible for pituitary development.[16, 17, 18]
    • Neonatal hypopituitarism, although not truly congenital, may also result from severe asphyxia either at birth or shortly thereafter.
  • Acquired hypopituitarism: Causes of acquired hypopituitarism are frequently the result of hypothalamic or pituitary tumors and their surgical or radiologic treatment. Craniopharyngiomas, pituitary dysgerminomas, and optic gliomas are particularly common causes of hypopituitarism.[19] Other causes include trauma and autoimmune lymphocytic hypophysitis.[20, 21, 22, 23] Hormonal abnormalities are noted in 25% of adults with traumatic brain injury.[24] The frequency of hormonal abnormalities in children following brain injury is unknown.[25]
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Contributor Information and Disclosures
Author

Robert P Hoffman, MD  Professor of Pediatrics, Department of Pediatrics, Ohio State University College of Medicine

Robert P Hoffman, MD is a member of the following medical societies: American Diabetes Association, American Pediatric Society, Christian Medical & Dental Society, Endocrine Society, and Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Thomas A Wilson, MD  Professor of Clinical Pediatrics, Chief and Program Director, Division of Pediatric Endocrinology, Department of Pediatrics, The School of Medicine at Stony Brook University Medical Center

Thomas A Wilson, MD is a member of the following medical societies: Endocrine Society, Pediatric Endocrine Society, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lynne Lipton Levitsky, MD  Chief, Pediatric Endocrine Unit, Massachusetts General Hospital; Associate Professor of Pediatrics, Harvard Medical School

Lynne Lipton Levitsky, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Diabetes Association, American Pediatric Society, Endocrine Society, Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Pfizer Grant/research funds P.I.; Tercica Grant/research funds Other; Eli Lily Grant/research funds PI; NovoNordisk Grant/research funds PI; NovoNordisk Consulting fee Consulting; Onyx Heart Valve Consulting fee Consulting

Merrily P M Poth, MD  Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences

Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD  Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

References

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Pathophysiology of panhypopituitarism.
 
 
 
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