OBJECTIVE: To investigate the incidence of endocrinopathies in holoprosencephaly (HPE) and correlate the severity of the endocrinopathies with the neuroanatomic abnormalities. STUDY DESIGN: We reviewed the histories and medical records of 117 children with HPE for endocrinopathies and related treatments. Neuroimaging studies were graded for severity of HPE, hypothalamus non-separation, and pituitary abnormalities. RESULTS: Diabetes insipidus (DI) occurred in 70% of patients with classic HPE. The severity of the DI correlated with the grade of HPE and hypothalamic non-separation (p < 0.0001). Anterior pituitary dysfunctions were much less common. Hypothyroidism was identified in 11% of patients, hypocorticism in 7%, and growth hormone deficiency in 5%. Only one patient with middle interhemispheric variant of holoprosencephaly (MIH) had any of these disorders. CONCLUSIONS: Patients with HPE have a high incidence of DI that may be related to the failure of cleavage of hypothalamic nuclei. Anterior pituitary dysfunctions are much less common than DI.
OBJECTIVE: To investigate the incidence of endocrinopathies in holoprosencephaly (HPE) and correlate the severity of the endocrinopathies with the neuroanatomic abnormalities. STUDY DESIGN: We reviewed the histories and medical records of 117 children with HPE for endocrinopathies and related treatments. Neuroimaging studies were graded for severity of HPE, hypothalamus non-separation, and pituitary abnormalities. RESULTS:Diabetes insipidus (DI) occurred in 70% of patients with classic HPE. The severity of the DI correlated with the grade of HPE and hypothalamic non-separation (p < 0.0001). Anterior pituitary dysfunctions were much less common. Hypothyroidism was identified in 11% of patients, hypocorticism in 7%, and growth hormone deficiency in 5%. Only one patient with middle interhemispheric variant of holoprosencephaly (MIH) had any of these disorders. CONCLUSIONS:Patients with HPE have a high incidence of DI that may be related to the failure of cleavage of hypothalamic nuclei. Anterior pituitary dysfunctions are much less common than DI.
Authors: Benjamin D Solomon; Sandra Mercier; Jorge I Vélez; Daniel E Pineda-Alvarez; Adrian Wyllie; Nan Zhou; Christèle Dubourg; Veronique David; Sylvie Odent; Erich Roessler; Maximilian Muenke Journal: Am J Med Genet C Semin Med Genet Date: 2010-02-15 Impact factor: 3.908
Authors: Karin Weiss; Paul Kruszka; Maria J Guillen Sacoto; Yonit A Addissie; Donald W Hadley; Casey K Hadsall; Bethany Stokes; Ping Hu; Erich Roessler; Beth Solomon; Edythe Wiggs; Audrey Thurm; Robert B Hufnagel; Wadih M Zein; Jin S Hahn; Elaine Stashinko; Eric Levey; Debbie Baldwin; Nancy J Clegg; Mauricio R Delgado; Maximilian Muenke Journal: Genet Med Date: 2017-06-22 Impact factor: 8.822