Familial holoprosencephaly with endocrine dysgenesis

Chronic Hypernatremia Associated with Holoprosencephaly

“…This brain malformation is frequently associated with endo crine dysgenesis, and vasopressin-responsive diabetes insipidus associated with hypernatremia has been reported previously in two cases of holoprosencephaly (Hintz et al 1968;Schimschock et al 1969). …”

“…Hintz et al (1968) reported diminished adrenocorticotropic hormone reserve, secondary adrenal insufficiency and vasopressin-responsive diabetes insipidus associated with hypernatremia (Na, 158 mEq/liter) in a case of holoprosencephaly. They also noted no evidence of abnormalities of the release of growth hormone or thyroid stimulating hormone.…”

“…Endocrine dysgeneses have been observed in holoprosencephaly at postmortem examination; agenesis of the pituitary gland, and adrenal and thyroid hypoplasia (Yakovlev 1959;Haworth et al 1961;Hintz et al 1968; James and Leeuwen 1970). Hintz et al (1968) reported diminished adrenocorticotropic hormone reserve, secondary adrenal insufficiency and vasopressin-responsive diabetes insipidus associated with hypernatremia (Na, 158 mEq/liter) in a case of holoprosencephaly.…”

Letter to the editor: Hidden pituitary gland: Implications for assessment

“…Diabetes insipidus has been documented by Hintz et al [1968] and by Cohen and Sulik [1992]. Kolf-Clauw et al [1997] used BM15.766 to induce holoprosencephaly in rats.…”

Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male

“…Holoprosencephaly is most often sporadic. However, familial occurrence has been observed (Dominok and Kirchmair 1961;DeMeyer et al 1963;Hintz et al 1968;Ardouin et al 1968;James and Van Leeuwen 1970;Khan et al 1970;Dallaire et al 1971;Nivelon-Chevallier and Nivelon 1975) with autosomal dominant (Patel et al 1972;Lowry 1974;Roach et al 1975, pedigree 20;Gilbert and Opitz 1976;Petterson 1976;Cantfi et al 1978;Benke and Cohen 1983;Berry et al 1984;Hattori et al 1987), autosomal recessive (Klopstock 1921;Grebe 1954;Cohen and Gorlin 1969;Cohen et al 1971), or possible X-linked inheritance (Begleiter and Harris 1980;Falk et al 1982). In addition, it has been described in infants of diabetic mothers (Dekaban 1959;Barr et al 1983), in congenital cytomegalovirus infection (Byrne et al 1987), and in the following syndromes: DiGeorge syndrome (Conley et al 1979); Meckel syndrome (Hsia et al 1971); orofacial-digital syndrome (Vfiradi et al 1980 (Wraith et al 1985); and the CHARGE association (Toriello 1986).…”