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August 1988, Vol 142, No. 8 >
Article | August 1988

Familial Glucocorticoid Deficiency in a Girl With Familial Hypophosphatemic Rickets FREE

Binita R. Shah, MD; Irma Fiordalisi, MD; Karen Sheinbaum, MD; Laurence Finberg, MD
[+] Author Affiliations

Accepted for publication March 16, 1988.

Reprint requests to Box 49, the Department of Pediatrics, State University of New York, Health Science Center at Brooklyn, 450 Clarkson Ave, Brooklyn, NY 11203 (Dr Shah).


Am J Dis Child. 1988;142(8):900-903. doi:10.1001/archpedi.1988.02150080106036.
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References
Comments

• Familial glucocorticoid deficiency is a rare multisystem disorder characterized by glucocorticoid deficiency with normal mineralocorticoid activity, achalasia of the cardia, and alacrima. Familial hypophosphatemic rickets is characterized by selective renal phosphate wasting with subsequent hypophosphatemia and an inappropriately low 1,25-dihydroxyvitamin D concentration for the degree of hypophosphatemia. A 6-year-old girl with both disorders is described. A biochemical relationship between familial glucocorticoid deficiency and familial hypophosphatemic rickets could not be defined; the influence of cortisol on her serum calcium level, phosphorus level, and rickets, as well as the natural history of these two entitles, Is described.

(AJDC 1988;142:900-903)

REFERENCES

1 +
Albright F, Butler AM, Bloomberg E:  Rickets resistant to vitamin D therapy . AJDC 1937;; 54:529-547.
2 +
Chan JCM, Alon U, Hirschman GM:  Renal hypophosphatemic rickets . J Pediatr 1985;;106: 533-544.
3 +
Short EM, Binder HJ, Rosenberg LE:  Familial hypophosphatemic rickets: Defective transport of inorganic phosphate by intestinal mucosa . Science 1973;;179:700-702.
4 +
Chesney RW, Mazess RB, Rose P, et al:  Supranormal 25-hydroxyvitamin D and subnormal 1,25-dihydroxyvitamin D: Their role in X-linked hypophosphatemic rickets . AJDC 1980;; 134:140-143.
5 +
Harrison HE, Harrison HC:  Rickets and osteomalacia , in Schaffer AJ, Markowitz M (eds): Disorders of Calcium and Phosphate Metabolism in Childhood and Adolescence . Philadelphia, WB Saunders Co, 1979;, vol 20, p 219.
6 +
Thistlethwaite D, Darling JAB, Fraser R, et al:  Familial glucocorticoid deficiency . Arch Dis Child 1975;;50:291-297.
7 +
Shepard TH, Landing BH, Mason DG:  Familial Addison's disease . AJDC 1959;;97:154-162.
8 +
Kershnar AK, Roe TF, Kogut MD:  Adrenocorticotropic hormone unresponsiveness: Report of a girl with excessive growth and review of 16 reported cases . J Pediatr 1972;;80:610-619.
9 +
Mason RS, Rohl PG, Lissner D, et al:  Vitamin D metabolism in hypophosphatemic rickets . AJDC 1982;;136:909-913.
10 +
Scriver CR, Reade TM, DeLuca HF, et al:  Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease . N Engl J Med 1978;;299:976-979.
11 +
Findling JW, Adams ND, Lemann J, et al:  Vitamin D metabolites and parathyroid hormone in Cushing's syndrome: Relationship to calcium and phosphorus homeostasis . J Clin Endocrinol Metab 1982;;54:1039-1044.
12 +
Migeon CJ, Kenny FM, Kowarski A, et al:  The syndrome of congenital adrenocortical unresponsiveness to ACTH: Report of six cases . Pediatr Res 1968;;2:501-513.
13 +
Kelch RP, Kaplan SL, Biglieri EG, et al:  Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone . J Pediatr 1972;; 81:726-736.
14 +
Davidai G, Kahana L, Hochberg Z:  Glomerulosa failure in congenital adrenocortical unresponsiveness to ACTH . Clin Endocrinol 1984;; 20:515-520.
15 +
Moshang T, Rosenfield RL, Bongiovanni AM, et al:  Familial glucocorticoid insufficiency . J Pediatr 1973;;82:821-826.
16 +
Allgrove J, Clayden GS, Grant DB, et al:  Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production . Lancet 1978;;1:1284-1286.
17 +
Geffner ME, Lippe BM, Kaplan SA, et al:  Selective ACTH insensitivity, achalasia, and alacrima: A multisystem disorder presenting in childhood . Pediatr Res 1983;;17:532-536.
18 +
Spark RF, Etzkorn JR:  Absent aldosterone response to ACTH In familial glucocorticoid deficiency . N Engl J Med 1977;;297:917-920.
19 +
Stempfel RS, Engel FL:  A congenital, familial syndrome of adrenocortical insufficiency without hypoaldosteronism . J Pediatr 1960;;57: 443-451.
20 +
Petrykowski WV, Burmeister P:  Familial glucocorticoid insufficiency, abstracted . Acta Endocrinol Suppl 1974;;75( (suppl 184) ):63.
21 +
Ambrosino MM, Genieser NB, Bangaru BS, et al:  The syndrome of achalasia of the esophagus, ACTH insensitivity and alacrima . Pediatr Radiol 1986;;16:328-329.
22 +
Lanes R, Plotnick LP, Bynum TE, et al:  Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia , J Clin Endocrinol Metab 1980;;50:268-270.
23 +
Blizzard RM, Chee D, Davis W:  The incidence of adrenal and other antibodies in the sera of patients with idiopathic adrenal insufficiency . Clin Exp Immunol 1967;;2:19-30.
24 +
Stamp TCB, Baker LRI:  Recessive hypophosphatemic rickets and possible aetiology of the 'vitamin D—resistant' syndrome . Arch Dis Child 1976;;51:360-365.

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References

1 +
Albright F, Butler AM, Bloomberg E:  Rickets resistant to vitamin D therapy . AJDC 1937;; 54:529-547.
2 +
Chan JCM, Alon U, Hirschman GM:  Renal hypophosphatemic rickets . J Pediatr 1985;;106: 533-544.
3 +
Short EM, Binder HJ, Rosenberg LE:  Familial hypophosphatemic rickets: Defective transport of inorganic phosphate by intestinal mucosa . Science 1973;;179:700-702.
4 +
Chesney RW, Mazess RB, Rose P, et al:  Supranormal 25-hydroxyvitamin D and subnormal 1,25-dihydroxyvitamin D: Their role in X-linked hypophosphatemic rickets . AJDC 1980;; 134:140-143.
5 +
Harrison HE, Harrison HC:  Rickets and osteomalacia , in Schaffer AJ, Markowitz M (eds): Disorders of Calcium and Phosphate Metabolism in Childhood and Adolescence . Philadelphia, WB Saunders Co, 1979;, vol 20, p 219.
6 +
Thistlethwaite D, Darling JAB, Fraser R, et al:  Familial glucocorticoid deficiency . Arch Dis Child 1975;;50:291-297.
7 +
Shepard TH, Landing BH, Mason DG:  Familial Addison's disease . AJDC 1959;;97:154-162.
8 +
Kershnar AK, Roe TF, Kogut MD:  Adrenocorticotropic hormone unresponsiveness: Report of a girl with excessive growth and review of 16 reported cases . J Pediatr 1972;;80:610-619.
9 +
Mason RS, Rohl PG, Lissner D, et al:  Vitamin D metabolism in hypophosphatemic rickets . AJDC 1982;;136:909-913.
10 +
Scriver CR, Reade TM, DeLuca HF, et al:  Serum 1,25-dihydroxyvitamin D levels in normal subjects and in patients with hereditary rickets or bone disease . N Engl J Med 1978;;299:976-979.
11 +
Findling JW, Adams ND, Lemann J, et al:  Vitamin D metabolites and parathyroid hormone in Cushing's syndrome: Relationship to calcium and phosphorus homeostasis . J Clin Endocrinol Metab 1982;;54:1039-1044.
12 +
Migeon CJ, Kenny FM, Kowarski A, et al:  The syndrome of congenital adrenocortical unresponsiveness to ACTH: Report of six cases . Pediatr Res 1968;;2:501-513.
13 +
Kelch RP, Kaplan SL, Biglieri EG, et al:  Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone . J Pediatr 1972;; 81:726-736.
14 +
Davidai G, Kahana L, Hochberg Z:  Glomerulosa failure in congenital adrenocortical unresponsiveness to ACTH . Clin Endocrinol 1984;; 20:515-520.
15 +
Moshang T, Rosenfield RL, Bongiovanni AM, et al:  Familial glucocorticoid insufficiency . J Pediatr 1973;;82:821-826.
16 +
Allgrove J, Clayden GS, Grant DB, et al:  Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production . Lancet 1978;;1:1284-1286.
17 +
Geffner ME, Lippe BM, Kaplan SA, et al:  Selective ACTH insensitivity, achalasia, and alacrima: A multisystem disorder presenting in childhood . Pediatr Res 1983;;17:532-536.
18 +
Spark RF, Etzkorn JR:  Absent aldosterone response to ACTH In familial glucocorticoid deficiency . N Engl J Med 1977;;297:917-920.
19 +
Stempfel RS, Engel FL:  A congenital, familial syndrome of adrenocortical insufficiency without hypoaldosteronism . J Pediatr 1960;;57: 443-451.
20 +
Petrykowski WV, Burmeister P:  Familial glucocorticoid insufficiency, abstracted . Acta Endocrinol Suppl 1974;;75( (suppl 184) ):63.
21 +
Ambrosino MM, Genieser NB, Bangaru BS, et al:  The syndrome of achalasia of the esophagus, ACTH insensitivity and alacrima . Pediatr Radiol 1986;;16:328-329.
22 +
Lanes R, Plotnick LP, Bynum TE, et al:  Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia , J Clin Endocrinol Metab 1980;;50:268-270.
23 +
Blizzard RM, Chee D, Davis W:  The incidence of adrenal and other antibodies in the sera of patients with idiopathic adrenal insufficiency . Clin Exp Immunol 1967;;2:19-30.
24 +
Stamp TCB, Baker LRI:  Recessive hypophosphatemic rickets and possible aetiology of the 'vitamin D—resistant' syndrome . Arch Dis Child 1976;;51:360-365.

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