Adrenal Cortical Hypoplasia in Siblings

Boyd, J. F.; MacDonald, A. M.

doi:10.1136/adc.35.184.561

Cited by 34 publications

(14 citation statements)

References 29 publications

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“…Other reports appeared, and Mitchell and Rhaney (1959) recorded the first occurrence in a male sibship and suggested a familial basis. Boyd and MacDonald (1960) reported the necropsy findings in another pair of brothers who died in the neonatal period.…”

mentioning

confidence: 99%

Familial congenital adrenal hypoplasia.

Uttley¹

1968

Archives of Disease in Childhood

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mentioning

confidence: 99%

Familial congenital adrenal hypoplasia.

Uttley¹

1968

Archives of Disease in Childhood

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“…His urinary 17-KS and 17-KGS were low, and there was no significant increase in urinary steroids after giving ACTH for several days. Adrenal cortical hypoplasia in two male sibs, who both died in the neonatal period, is also reported by Boyd and MacDonald (1960).…”

Section: The Adrenal Cortex In Childhoodmentioning

confidence: 81%

“…Acute adrenal insufficiency in infancy has been described as a result of congenital hypoplasia of the adrenal glands. This may occur either in combination with congenital hypoplasia or absence of the pituitary gland (Blizzard and Alberts, 1956;Mosier, 1956;Ehrlich, 1957;Brewer, 1957;Reid, 1960), or as an isolated congenital adrenal hypoplasia (gikl, 1948;Deamer and Silver, 1950;Welsh and Mehlin, 1954;MacMahon and Wagner, 1956;Williams and Robinson, 1956;Harlem and Myhre, 1957;MacMahon, Wagner, and Weiner, 1957;Mitchell and Rhaney, 1959;Boyd and MacDonald, 1960). Mitchell and Rhaney (1959) observed two male sibs.…”

Section: The Adrenal Cortex In Childhoodmentioning

confidence: 99%

The adrenal cortex in childhood. 2. Pathological aspects.

Visser¹

1966

Archives of Disease in Childhood

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“…We found 28 cases of congenital hypoadrenalism (including Congenital Adrenal Hypoplasia-An X-Linked Disease those in this family) not associated with tuberculosis, adrenal haemorrhage, or pituitary abnormalities. Twenty-three of these occurred in male infants (Dacou and DiGeorge, 1968;Bickham et al 1968;Zondek and Zondek, 1968;Boyd and MacDonald, 1960;Stempfel and Engel, 1960;Mitchell and Rhaney, 1959;Gardner, 1957;MacMahon, Wagner, and Weiner, 1957;Harlem and Myhre, 1957;Denys, Corbeel, and Malbrain, 1955;Deamer and Silver, 1950;Provenzano, 1950;Geppert, Spencer, and Richmond, 1950;and Sikl, 1948) and five in females (Winquist, 1961;Shepard, Landing, and Mason, 1959;Williams and Robinson, 1956;Weens and Golden, 1955). Of the affected males, 15 had affected male sibs, but none had an affected female sib.…”

Section: Case Reportmentioning

confidence: 99%

Congenital adrenal hypoplasia--an X-linked disease.

Weiss¹,

Mellinger²

1970

Journal of Medical Genetics

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Dacou and DiGeorge (1968) reported in abstract form their findings from a study of three male infants with adrenal hypoplasia. These infants by history had a common mother and two different fathers. At about the same time Bickham, Silvestre, and Mellinger (1968) reported on two affected male sibs who had a common mother and different fathers. Both authors suggested X-linked inheritance in this disorder, but genetic data documenting the paternity of these individuals were not presented in either instance.The present report describes an additional affected male born to the mother of the patients studied by Bickham, and includes genetic data documenting differing paternity and pathological confirmation of adrenal hypoplasia. Case ReportThe patient was first seen at the Henry Ford Hospital at 8 days of age. His mother became concerned when he began persistent vomiting two days before admission, because two of three older children, who were known to have adrenal hypofunction, had experienced similar symptoms.The patient was a male infant born after an uncomplicated 40-week pregnancy. The only medications taken during pregnancy were iron and vitamins. His birthweight was 4082 g. He had lost weight continuously since birth and there was gradually increasing lethargy.The family pedigree obtained from the mother is indicated in Fig. 1. In two marriages she had borne four children, all male. The first child (II.1) has adrenal hypofunction and is under treatment. The second child (II.2), who was born in a second marriage, is normal. The next child (II.3) had adrenal hypoplasia and is under treatment, and the proband is shown as II.4. There were no miscarriages. The first child was diagnosed as having adrenal hypoplasia at the age of 3 years 4 months. However, he had not gained weight during the previous two years and weighed only 11-8 kg. Growth and development have been normal since beginning corticosteroid therapy. The diagnosis in the second affected child (II.3) was made at 14 days of age when he was admitted to hospital because of weight loss, dehydration, and lethargy. His growth and development have also been normal since the institution of specific therapy.The initial physical examination when the patient was 8 days old revealed a thin, dehydrated, lethargic white male infant. His pulse was 160 a minute and his blood pressure was 64 mm. Hg systolic. He weighed 3515 g. and was 53 cm. long. The anterior fontanelle was sunken and the oral mucous membranes were dry. The lungs were clear and the heart had no murmurs. No intra-abdominal masses were palpable. A reducible right inguinal hernia was present. The genitalia were those of a normal male. There were no abnormalities of the extremities and no apparent abnormality of skin pigmentation.Laboratory studies. The haemoglobin was 9-0 g./ 100 ml., WBC 16,000/cu. mm.; the differential count, urinalysis, blood urea nitrogen, and creatinine were normal. The serum sodium was 125, potassium 8-6, chloride 100 and CO2 13 mEq/l. Calcium was 9-7 and phosphorus 4-2 mg./100 ml. ...

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Adrenal Cortical Hypoplasia in Siblings

Cited by 34 publications

References 29 publications

Familial congenital adrenal hypoplasia.

Familial congenital adrenal hypoplasia.

The adrenal cortex in childhood. 2. Pathological aspects.

Congenital adrenal hypoplasia--an X-linked disease.

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