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Biomedical subjects

H Landau

Publications and source records attributed to H Landau.

At least 55 records · Page 3Linked to original sources
PubMed1986

Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase deficiency: gender reassignment in early infancy.

Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD) deficiency has a high prevalence within the Arab population of the Gaza strip and is characterised by marked virilization at puberty, leading in many cases to the spontaneous adoption of a male gender role. As a result of this, parents of 7 affected male infants (aged 1-10 months) born with female phenotype requested early gender reassignment. Diagnosis was suspected in 5 on the basis of a positive family history, but confirmed in all cases by the finding of low to normal testosterone levels (30-184 ng/dl) with high delta 4-androstenedione levels (188-808 ng/dl), after hCG. Treatment with im testosterone oenanthate (25-50 mg/dose) was given in one to three 3-months courses and penile size was increased into the normal range without evoking a significant increase in height velocity or skeletal maturation. Five patients underwent the first stage of male genitoplasty between 2 and 3 years of age. This consisted of bilateral orchidopexy, chordee release and penile lengthening - yielding finally an anatomically normal-sized and shaped penis. Androgen responsive male pseudohermaphroditism due to 17 beta-HSD deficiency or a similar defect and diagnosed in infancy should be treated as soon as possible with systemic testosterone before considering any sex change, and in preparation for male genitoplasty. Early gender reassignment according to genetic and gonadal sex is probably the management of choice for these cases since this may result in a normal adjustment to the male gender role, particularly after puberty.

17-Hydroxysteroid Dehydrogenases↗
PubMed1985

Vitamin D-dependent rickets types I and II. Diagnosis and response to therapy.

The diagnostic value of measuring serum vitamin D metabolites is demonstrated in the present study in which two patients with vitamin D-dependent rickets (VDDR) Types I and II are reported. The patient with sporadic VDDR Type I was severely disabled and unable to walk. Her serum 1,25(OH)2D level was low (32 pg/ml, normal 30 to 60) and she responded dramatically to 1 microgram of 1 alpha-hydroxyvitamin D3 daily. The VDDR Type II patient had an autosomal recessive inheritance and total alopecia. His serum 1,25(OH)2D level was greater than 500 pg/ml, compatible with end-organ refractoriness to 1,25(OH)2D. He did not respond to daily doses of 1 microgram 1 alpha-hydroxyvitamin D3. These cases demonstrate the striking difference in 1,25(OH)2D levels and therapeutic response to 1,25(OH)2D in these two conditions.

Adult↗
PubMed1984

Adrenocortical reserve of neonates born of long-term, steroid-treated mothers.

Since corticosteroids have been shown to be transferred across the human placenta, prolonged administration of these drugs during gestation could be expected to suppress the response of the neonatal adrenal gland. Plasma cortisol levels, before and 30 min after the injection of ACTH (36 micrograms/kg), were determined in six neonates who were exposed in utero to prolonged maternal administration of prednisone. The basal plasma cortisol levels of these neonates (6.15 +/- 2.57 micrograms %; mean +/- SEM) were similar to values obtained in eight healthy neonates (5.19 +/- 1.36 micrograms %). The increment of cortisol levels after ACTH stimulation (16.4 +/- 2.07 micrograms %) of the study patients was larger (P less than 0.01) than the change (10.3 +/- 0.82 micrograms %) observed in six older controls. These results indicate a normal neonatal adrenal reserve after prolonged exposure to corticosteroids during fetal life.

Adolescent↗
PubMed1984

TSH secretion in thalassemia.

Thyroid function has been evaluated in 6 prepubertal male and 9 female thalassemic patients. Four of the latter were sexually immature (Group I), with very low estradiol levels and the remainder had more advanced sexual development (Group II). Subjects were challenged with TRH and the response compared to adult controls and a group of 15 males aged 13-18 years with constitutional delayed adolescence. All patient groups and controls had normal levels of T4, T3 and T3 resin uptake. When compared to adult controls or males with constitutional delayed adolescence, the male thalassemic patients had increased basal TSH levels with an exaggerated response to TRH. Long term testosterone enanthate led to a decrease in integrated TSH secretion, showing that androgens may decrease the TSH response to TRH. The more sexually mature females of Group II also had increased basal and stimulated TSH levels; however, the sexually immature females of Group I had basal TSH and TSH responses to TRH equivalent to female controls. In Group I patients there were, moreover, no changes in TSH response during administration of estradiol valearate for 3 months and conjugated estrogens for 8 months. The high basal and stimulated TSH levels in the males and Group II females are most likely due to subclinical primary hypothyroidism. This has been previously described in thalassemia. On the other hand, failure of estrogens to increase the TSH response to TRH in Group I females is evidence of pituitary involvement, which is also well documented in this clinical condition.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1984

Precocious puberty in myelomeningocele patients.

Of a group of 79 patients (45 males, 34 females) with myelomeningocele (MMC), 52 had associated hydrocephalus. Three of the hydrocephalic patients (two arrested and one shunted) were found to have precocious sexual development. Endocrine investigations confirmed true isosexual precocity. Hydrocephalus is known to be associated with precocious puberty, but the occurrence of sexual precocity in patients with hydrocephalus in conjunction with MMC has not been described to date. As the clinical diagnosis of hydrocephalus in a young child is often unreliable, routine computerized tomographic scans of all MMC patients is advised, and even patients with arrested hydrocephalus should be followed carefully for signs of precocious puberty. In addition, a high incidence (15%) of cryptorchidism was found in the group of MMC patients reviewed.

Child↗
PubMed1984

Growth and sexual development before and after sex steroid therapy in patients with thalassemia major.

Growth, sexual development, and hypothalamic-pituitary-gonadal function were evaluated in 23 patients with thalassemia major (14 female and nine male) aged 13 to 29 years. Five women (group 1) with hemoglobin levels of less than 7 g/dL, which were maintained by transfusions during childhood, did not spontaneously enter puberty. They had evidence of severe hypothalamic-pituitary dysfunction. Maintaining hemoglobin levels of about 8 g/dL resulted in spontaneous onset of puberty in seven of nine female patients (group 2), but had no such ameliorative effect on the nine male patients. In the latter, peak luteinizing hormone (LH) responses to gonadotropin releasing hormone correlated with bone age. Treatment with testosterone produced inconsistent partial inhibition of LH and follicle-stimulating hormone (FSH) responses to stimulation. After discontinuation of testosterone treatment, a rebound of basal testosterone, LH, and FSH levels was observed, but this was not sustained. These findings are compatible either with dysfunction of hypothalamic maturation or with partial pituitary dysfunction. Four of the group 1 females and six of the males treated with appropriate sex hormones showed satisfactory pubertal progression. Acceleration in linear growth was observed in four of the male patients whose epiphyses were still open. Treatment was well tolerated in all patients.

Adolescent↗
PubMed1982

Clinical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

Studies in 18 Jewish families from Morocco, Tunis, Turkey and Iran revealed 26 patients with congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. The clinical expression of androgen excess varied widely in affected females, and range from solely enlarged clitoris in the mildest forms to severely hypertrophied clitoris with penile urethra and fused labial-scrotal folds in the most extreme forms of masculinization. Intermediate degrees of severity were manifested by ambiguous genitalia. There was no correlation between the degree of virilization and the signs of mineralocorticoid excess. Severe volume-induced hypertension leading to vascular accidents and death were also observed in severe as well as in mildly virilized patients, while completely masculinized females were sometime normotensive. Overt hypokalemia was present in 6 patients but was not a constant feature of hypertensives. However, all affected individuals, except for 2 infants, had very low levels of plasma renin activity suggesting that a state of volume expansion was indeed present in the majority of cases, even though changes in blood pressure did not always occur. The clinical expression of this disorder is characterized by a wide range of variability in the signs of both androgen and mineralocorticoid excess, which do not necessarily correlate with the quantity of hormones secreted.

Adolescent↗
PubMed1982

Combined treatment of severe hyponatremia due to inappropriate antidiuretic hormone secretion.

A 6-year-old girl developed generalized seizures followed by coma, five days after surgical removal of a craniopharyngioma. Low serum sodium levels and low serum osmolality with inappropriately high urinary sodium output confirmed the diagnosis of inappropriate antidiuretic hormone (ADH) secretion. Treatment with 3% hypertonic saline solution and repeated doses of furosemide (1 mg/kg) improved her clinical condition; serum sodium levels, however, rose slowly and urinary excretion remained high. Deoxycorticosterone acetate (DOCA), 4 mg/sq m/day, was added to the above regimen. A striking clinical improvement was noted. Serum sodium levels returned to normal with a concomitant sharp decline in urinary sodium output. The clinical course of this patient demonstrates the efficacy of the addition of deoxycorticosterone acetate to hypertonic saline and furosemide in the treatment of severe, life-threatening hyponatremia due to the syndrome of inappropriate antidiuretic hormone secretion.

Child↗
PubMed1982

Persistent neonatal hypoglycemia due to hyperinsulinism: medical aspects.

Eight neonates with persistent hypoglycemia were seen over a four-year period and a ninth infant with neonatal onset was treated from 9 months of age. Seven infants had high absolute insulin levels (range 12 to 50 microunits/ml) during hypoglycemia whereas two patients had normal levels which were, however, inappropriate for the low blood glucose levels. Six patients with severe intractable hypoglycemia resistant to intensive medical therapy (including high dose diazoxide) had partial or total pancreatectomy, whereas three with relatively controllable hypoglycemia eventually had spontaneous remissions. In one of the medically treated patients, remission occurred at the unusually early age of 4 months. In the six surgically treated patients and in a seventh patient who had a biopsy only, the pancreas showed characteristic pathologic changes compatible with those described as nesidioblastosis or "endocrine-cell dysplasia." Of the six patients followed up for greater than or equal to 24 months, four have normal psychomotor development, despite periods of arrested head growth in early infancy in three of them.

Female↗
PubMed1980

Neonatal hyperinsulinism--surgical and pathologic considerations.

Hyperinsulinism in infancy is most often associated with a diffuse pancreatic lesion designated islet-cell dysmaturation syndrome. This disease is commonly associated with persistent hypoglycemia which usually results from inappropriate secretion of insulin. Urgent medical therapy consisting of hypertonic glucose infusion, frequent feeding, and diazoxide is mandatory in order to prevent central nervous system damage. Where medical means of therapy are not effective, an early 85% subtotal pancreatectomy with preservation of the spleen, is indicated. Nine infants who suffered from hyperinsulinism are reported. In two, medical measures were sufficient to control the disease. One of these patients in whom treatment was started late, remained slightly mentally retarded. Seven patients underwent 85% pancreatectomy. In one of these, an additional 7.5% of the pancreas had to be removed and in a second patient total pancreatectomy was performed in order to control the disease. One patient died on the eighth postoperative day after acute gastric perforation. There was no evidence of residual brain damage in the patients who underwent subtotal pancreatectomy.

Diazoxide↗
PubMed1980

11-deoxycortisol in amniotic fluid: prenatal diagnosis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

The mean control level of 11-deoxycortisol as determined by radioimmunoassay in eighty-one human amniotic fluid samples was 1.20 +/- 0.07 ng/ml. Markedly elevated levels were found at term in amniotic fluid of two pregnancies with fetuses affected with 11 beta-hydroxylase deficiency, congenital adrenal hyperplasia (135.0 and 64.0 ng/ml respectively) as well as in the maternal serum of one of these cases (28.0 ng/ml). It is suggested that the determination of 11-deoxycortisol in amniotic fluid be a prenatal diagnostic test for 11 beta-hydroxylase deficiency congenital adrenal hyperplasia.

17-Hydroxycorticosteroids↗
PubMed1980

Amniotic fluid 3,3',5'-triiodothyronine in the detection of congenital hypothyroidism.

Amniotic fluid rT3 levels were measured during pregnancy in two women who previously gave birth to infants suffering from neonatal hypothyroidism. In the first case, hypothyroidism was strongly suspected because of repeated low levels of rT3 in the amniotic fluid (20-64 ng/dl) at 16 and 31 weeks of gestation. A normal infant was delivered. He is now 10 months old and taking no treatment; he has no clinical or laboratory signs of hypothyroidism. In the second case, amniotic rT3 levels (140-180 ng/dl) were well within the normal range for 15-19 weeks of pregnancy, but an affected hypothyroid infant was born. These data suggest that amniotic fluid rT3 levels may not be a reliable tool in diagnosing intrauterine hypothyroidism.

Adult↗
PubMed1979

Pituitary enlargement secondary to hypothyroidism associated with sublingual thyroid gland.

Two patients with sublingual thyroid glands and hypothyroidism since childhood are described. Because of enlargement of the sella turcica both were erroneously diagnosed as having primary pituitary tumors resulting in secondary hypothyroidism. One of the patients was even treated with pituitary gland irradiation. Following substitution thyroid therapy, thyroid-stimulating hormone (TSH) levels promptly returned to normal. Ectopic thyroid glands, which are often incapable of adequate hormonogenesis, may cause secondary pituitary enlargement and lead to the suspicion of a pituitary adenoma. The correct diagnosis can easily be established by measuring serum TSH levels, which are elevated in the former condition.

Adult↗