NEONATAL MANIFESTATION OF INHERITED HYPOPITUITARISM


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

Background. Inherited hypopituitarism is a disease characterized by hypothalamic or pituitary malfunction with the decreased or ceased production of one or a few tropic hormones. Despite the congenital pattern of the pathology, the clinical picture of hormone deficiency is frequently obscure in infants, leading to its late diagnosis. Neonatality is marked by the development of hypoglycemic states, cholestatic syndrome, muscular hypotonia and related respiratory disorders. Description. The paper describes a clinical case of an infant with the neonatal manifestation of hypopituitarism, the main clinical signs of which were recurrent hypoglycemias, progressive diffuse muscular hypotonia, and progressive cholestatic syndrome. Hormone replacement therapy improved the infant’s state and relieved glycemic episodes and respiratory disorders. Skin icteritiousness was diminished, the liver reduced in size, and blood biochemical parameters showed positive changes. Conclusion. The early diagnosis of hypopituitarism and its timely treatment substantially improve the prognosis of the disease.

Full Text

Restricted Access

About the authors

A. Yu RYNDIN

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: a_ryndin@oparina4.ru
Moscow

O. V IONOV

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: o_ionov@oparina4.ru
Moscow

E. A KIRILLOVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: e_kirillova@oparina4.ru
Moscow

A. V DEGTYAREVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: a_degtyareva@oparina4.ru
Moscow

M. A MELIKYAN

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: m_melikyan@oparina4.ru
Moscow

L. V SHARIPOVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: l_sharipova@oparina4.ru
Moscow

E. N BALASHOVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: e_balashova@oparina4.ru
Moscow

N. V EVTEEVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: y_onishchenko@oparina4.ru
Moscow

Yu. G ONISHCHENKO

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Moscow

References

  1. Lammoglia J.J., Eyzaguirre F., Unanue N., Roman R., Codner E., Cassorla F., Mericq V. Congenital hypopituitarism: report of 23 cases. Rev. Med. Chil. 2008; 136(8): 996—1006.
  2. Волеводз Н.Н. Системные и метаболические эффекты гормона роста у детей с различными вариантами низкорослости: Дис.. д-ра мед. наук. М.; 2005. 283с.
  3. Alatzoglou K.S., Dattani M.T. Genetic forms of hypopituitarism and their manifestation in the neonatal period. Early Hum. Dev. 2009; 85: 705—12.
  4. Prabhakar V.K., Shalet S.M. Aetiology, diagnosis, and management of hypopituitarism in adult life. Postgrad. Med. J. 2006; 82: 259—66.
  5. Mehta A., Dattani M.T. Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism. Best Pract. Res. Clin. Endocrinol. Metab. 2008; 22(1): 191—206.
  6. Kelberman D., Dattani M.T. The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. Ann. Med. 2006; 38(8): 560—77.
  7. Brook C., Clayton P., Brown R., Savage M., eds. Brook's of clinical pediatric endocrinology. 5th ed. Oxford: Blackwell Publishing; 2005: 67—90.
  8. Filges I., Bischof-Renner A., Röthlisberger B., Potthoff C., Glanzmann R., Günthard J. et al. Panhypopituitarism Presenting as life-threatening Heart failure caused by an inherited microdeletion in 1q25 including LHX4. Pediatrics. 2012; 129(2): e529—34.
  9. Karnsakul W., Sawathiparnich P., Nimkarn S., Likitmaskul S., Santiprabhob J., Aanpreung P. Anterior pituitary hormone effects on hepatic functions in infants with congenital hypopituitarism. Ann. Hepatol. 2007; 6(2): 97—103.
  10. Sheehan A.G., Martin S.R., Stephure D. Neonatal cholestasis, hypoglycemia and congenital pituitarism. J. Pediatr. Gastroenterol. Nutr. 1992; 14(4): 426—30.
  11. Gönç E.N., Kandemir N., Andiran N., Özön A., Yordam N. Cholestatic hepatitis as a result of severe cortisol deficiency in early infancy: report of two cases and review of literature. Turk. J. Pediatr. 2006; 48: 376—9.
  12. Bell J., August G., Blethen S., Baptista J. Neonatal hypoglycemia is a growth hormone registry: incidence and pathogenesis. J. Pediatr. Endocrinol. Metab. 2004; 17(4): 629—35.
  13. Hutchins G.F., Gollan J.L. Recent developments in the pathophysiology of cholestasis. Clin. Liver Dis. 2004; 8: 1—26.
  14. Trauner M., Meier P.J., Boyer J.L. Molecular pathogenesis of cholestasis. N. Engl. J. Med. 1998; 339: 1217-27.
  15. Ellaway C.J., Silinik M., Cowell C.T., Gaskin K.J., Kamath K.R., Dorney S., Donaghue K.C. Cholestatic jaundice and congenital hypopituitarism. J. Paediatr. Child Health. 1995; 31(1): 51—3.
  16. Atreja G., Bustani P. Congenital hypopituitarism and renal failure. Indian J. Endocrinol. Metab. 2011; 15(Suppl.3): S253—4.
  17. Brown K., Rodgers J., Johnstone H., Adams W., Clarke M., Gibson M., Cheetham T. Abnormal cognitive function in treated congenital hypopituitarism. Arch. Dis. Child. 2004; 89: 827—30.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies