Four boys with Fanconi's anaemia and growth hormone (GH) deficiency are reported.Case 1 had isolated GH deficiency and responded to HGH and to oxandrolone treatment.Case 2, his brother, had milder haematological and dysmorphic manifestations and maintained a low-normal growth rate without treatment in spite of laboratory evidence of GH deficiency.Case 3 had multiple hypothalamopituitary defects, including deficiencies of GH, ACTH, and gonadotrophins.Case 4 had isolated GH deficiency and responded moderately well to HGH treatment. 3of the 4 patients had bilateral cryptorchidism, 2 with increased plasma gonadotrophins, indicating primary testicular failure.We conclude that GH deficiency, isolated or combined with other hypothalamopituitary defects, and primary testicular failure with cryptorchidism are frequent but not constant features of Fanconi's anaemia.

The case of a 6-year-old mentally retarded boy is described, who was delivered by breech presentation and who was later found to have adrenal calcifications. He presented with severe hypoglycemia during infancy and early childhood. Subsequent examinations revealed the coexistence of pituitary growth hormone and ACTH-deficiency and of adrenal medullary insufficiency. The hypothalamus-pituitary-thyroid and -gonadal axes were apparently normal. It is concluded that both, the pituitary and adrenal medullary insufficiency are probably due to the same complications at birth (hypothalamic or pituitary asphyxia and adrenal hemorrhage) and that both conditions contributed to the development of hypoglycemia.

SUMMARY An evaluation of twenty‐one boys, including a discordant pair of identical twins, is presented in whom bilateral anorchia was found with a negative family history and without history of breech presentation or of postnatal testicular trauma, torsion or orchitis. The most likely cause is prenatal testicular torsion. The incidence of the condition in our hospital is 1 in 177 cases of cryptorchidism. Prepubertal growth was normal beofore treatment, and testosterone replacement therapy allowed a normal pjubertal growth spurt and skeletal maturation. Although demonstrable basal urinary tstosterone was found in the subjects with a postpubertal bone age, most patients tested showed no increase after stimulation with human chorionic gonadotrophin. In the presence of a normal penis and scrotum, such findings, together with a high basal FSH and an increased response of plasma LH to LHRH, make surgical exploration unnecessary. In the rare patient who shows a positive but subnormal response of testosterone to HCG, Leydig cells are presumed to be present either ectopically or in rudimentary testes, and further surgical exploration is indicated. Anorchia, or absence of the testes, may be congenital or acquired postnatally through trauma or testicular torsion. Several conditions may mimic congenital anorchia, the most common being virilization of a female fetus as a result of congenital adrenal hyperplasia, meternal androgen ingestion, or by maternal androgen secreting tumours. Congenital anorchia has been said to occur in 1 in 20 000 male subjects (Bobrow & Gough, 1970) but despite this estimated prevalence there have been only eighty or so cases reported in the literature during the last 100 years. We have investigated twenty‐one additional cases, and wish now to report our observations. The reasons for the study are, first, that the number of cases, the largest series reported, allowsa thorough clinical and therapeutic evaluation; second, to report results on the testosterone response to human chorionic gonadotrophin administration and the luteinizing hormone and follicle stimulating hormone

An evaluation of twenty-one boys, including a discordant pair of identical twins, is presented in whom bilateral anorchia was found with a negative family history and without history of breech presentation or of postnatal testicular trauma, torsion or orchitis. The most likely cause is prenatal testicular torsion. The incidence of the condition in our hospital is 1 in 177 cases of cryptorchidism. Prepubertal growth was normal before treatment, and testosterone replacement therapy allowed a normal pubertal growth spurt and skeletal maturation. Although demonstrable basal urinary testosterone was found in the subjects with a postpubertal bone age, most patients tested showed no increase after stimulation with human chorionic gonadotrophin. In the presence of a normal penis and scotum, such findings, together with a high basal FSH and an increased response of plasma LH to LHRH, make surgical exploration unnecessary. In the rare patient who shows a positive but subnormal response of testosterone to HCG, Leydig cells are presumed to be present either ectopically or in rudimentary testes, and further surgical exploration is indicated.

The present study evaluates the modifying effect of growth hormone on the growth-promoting action of testosterone in boys at pubertal bone age. Growth and bone maturation were analyzed in 42 boys with primary or secondary Leydig cell insufficiency who had been treated with testosterone in an attempt to induce puberty and the accompanying growth spurt. The dosage given was considered normal or high for physiologic replacement therapy at puberty. Sixteen boys had normal GH secretion (seven had isolated gonadotropin deficiency, nine had congenital anorchia); 26 were GH and Gn deficient (20 idiopathic, six craniopharyngiomas). Of the GH-deficient patients, 12 received hGH simultaneously, while 14 received only testosterone. Results from each group were compared with the normal pubertal growth spurt in 15 untreated healthy boys. In isolated Gn deficiency and in congenital anorchia, the growth rates increased to above normal during the first six months of treatment, indicating that the testosterone dosage was probably too high for the beginning of puberty. During two subsequent six-month treatment periods, the rates leveled off close to normal. The same was true in the GH- and Gn-deficient patients on adequate hGH replacement. For contrast, there was minimal or no stimulation of growth when an even higher testosterone dose was given to GH- and Gn-deficient boys without hGH therapy. Bone maturation was normal in the boys with normal GH secretion or with hGH replacement, but was subnormal in the GH-deficient boys not treated with hGH. We conclude that testosterone exerts its full growth-promoting action only in the presence of normal endogenous GH secretion or with sufficient hGH replacement and that both hormones should be continued simultaneously until final adult height is achieved.