Diagnostic accuracy of magnetic resonance imaging (MRI) interpretation was assessed prospectively in patients with ambiguous genitalia or intersex problems. MRI depiction of the uterus was possible in 93%, the vagina in 95%, the penis in 100%, the testis in 88%, and the ovary in 74% of patients. The strength of MRI lies in the multiplanar capability and tissue characterization by means of T1- and T2-weighted sequences. MRI contributes to accurate morphologic evaluation of müllerian duct structures, the gonads, and the development of the phallus, all of which are essential for appropriate gender assignment and planning of surgical reconstruction.

Normal growth as well as acromegaloid features have been described in patients after HY for craniopharyngioma. This growth has been attributed to multiple factors including prolactin, ICF-I, insulin and anti-GH receptor antibodies. We have followed for 18 y a now 22 year old male who was HY for a craniopharyngioma at age 4. Subsequently he was replaced with thyroid, cortisone DDAVP and low dose halotestin. He grew normally and attained a final height of 179.5 cm (+2 S.D. for T.H.; + 0.4 SD for C.A.); weight 96 kg, 30 % above IBU, BMI 30 kg/m2. He had coarse features, large hands and feet, and a calcaneal heal pad of 25 mm, consistent with acromegaly. GH response to arginine, L-dopa, GRF and sleep were < 0.5 ng/ml. Circulating Prl< 2 ng/ml, IGF-1 17 ng/dl, IGF-II 104 mcg/1 and IGF-BP3 0.4 mg/l were very low. No plasma GH bio-activity was detected, He had a strikingly elevated insulin response to an OGTT(peak > 400 mu/l) basal insulin and glucose tolerance were normal, consistent with insulin resistance. We postulate two mechanisms by which insulin induced the growth promotion and acromegaloid features in the presence of very low GH, IGF-I and Prl: the frequent and strikingly elevated concentrations of plasma insulin in response to feeding 1) act on the IGF-1 receptor to produce an ICF-I effect and 2) the hyperinsulinemia increases local IGF-I production in cartilage (Alarid et al Endocrinology 130: 2305, 1992). He suggest the combination of these two effects of HI account for the growth pattern and acromegaloid features of this and similar patients.

Die Geschlechtsdifferenzierung beim Menschen beginnt mit der Verschmelzung von Ei und Samenzelle und der damit gegebenen Festlegung des genetischen Geschlechts. Bereits in den ersten Schwangerschaftswochen bedarf es allerdings komplexer Mechanismen, um ab der 7. Schwangerschaftswoche die Differenzierung der zunächst bipotenten Gonade zum Hoden oder zum Ovar zu induzieren. Damit ist - in Abhängigkeit vom chromosomalen Geschlecht - auch das gonadale Geschlecht festgelegt. Im Gegensatz zum Ovar entfaltet der Hoden bereits während der Fetalperiode endokrine Aktivität und somit kommt es zur Ausbildung des männlichen Phänotyps; darüber hinaus scheint dem vom fetalen Hoden produzierten Testosteron für die Prägung des psychischen Geschlechts eine entscheidende Bedeutung zuzukommen.

Forty-two cases of craniopharyngioma in children are reviewed. Only 9.5% had sought medical attention because of symptoms, suggesting hormonal deficit; however, growth retardation was present in 53% and growth hormone deficiency was documented in 72% before treatment. Multiple hypothalamic-pituitary hormone deficiencies were present in all patients after treatment. Eleven percent had normal skull radiographs at presentation; pneumoencephalograms and computed tomographic brain scans were abnormal on every occasion on which they were performed. Recurrence and mortality rates as well as the neurologic outcome of survivors were similar in children treated by radical excision and those treated by limited excision plus radiotherapy. The neurologic prognosis was poorest in those children who had limited excision or drainage without radiotherapy. Additional hypothalamic-pituitary dysfunction following treatment was less common in children who had limited excision plus radiotherapy than in children who had either limited excision or attempted total removal. Unless gross total tumor excision can be readily achieved, limited excision by transsphenoidal microsurgery or craniotomy plus radiotherapy appears to be the treatment of choice for craniopharyngioma in childhood.

Forty-two cases of craniopharyngioma in children reviewed. Only 9.5% had sought medical attention because of symptoms suggesting hormonal deficit; however, growth retardation was present in 53% and growth hormone deficiency was documented in 72% before treatment. Multiple hypothalamic-pituitary hormone deficiencies were present in all patients after treatment. Eleven percent had normal skull radiographs at presentation; pneumonencephalograms and computed tomographic brain scans were abnormal on every occasion on which they were performed. Recurrence and mortality rates as well as the neurologic outcome of survivors were similar in children treated by radical excision and those treated by limited excision plus radiotherapy. The neurologic prognosis was poorest in those children who had limited excision or drainage without radiotherapy. Additional hypothalamic-pituitary dysfunction following treatment was less common in children who had limited excision plus radiotherapy than in children who had either limited excision or attempted total removal. Unless gross total tumor excision can be readily achieved, limited excision by transsphenoidal microsurgery or craniotomy plus radiotherapy appears to be the treatment of choice for craniopharyngioma in childhood.

Commonly, estrogen therapy in patients with XO gonadal dysgenesis has been deferred until 15 yrs or later; it has been inferred that treatment with estrogen at an earlier age leads to rapid skeletal maturation and a lower adult height. In order to examine this hypothesis, we studied the effect of “low dose” early conjugated estrogen therapy on peak height velocity, bone age, and height. Seventeen patients (Group I), 11 with a 45,X karyotype and 6 with X chromosome mosaicism were given 0.3mg of conjugated estrogens daily starting at a mean age of 13.4 yrs. In comparison, 5 patients (Group II) were treated with 1.25mg of conjugated estrogens at a mean age of 15.5 yrs. In addition, growth was studied in 3 patients (Group III) with karyotypic evidence of a 45,X cell line, short stature and normal gonadal function at puberty.The mean height velocity in Group I prior to therapy was 2.7cm/yr and post-initial estrogen therapy was 5.2 cm/yr (p=.0002); the corresponding velocities for Group II were 2.4 and 4.4 cm/yr, respectively (p>0.5). The mean last measured height in Group I was 141.6 cm (135.4-145.8). The final height in Group II was 143.3 cm (136.9-150), and in Group III 135.8 cm (133.5-139). There was no significant difference between these 3 groups (p>0.1). These data suggest that low dose early estrogen therapy promotes secondary sexual development and stimulates a growth spurt without inordinate skeletal maturation or a reduction in final height. Thus, we recommend “low dose” estrogen treatment of patients with gonadal dysgenesis early in adolescence as it mitigates the undesirable psychologic effects of a prolonged delay in sexual maturation.

Nine children were referred to the University of California Medical Center, San Francisco, for growth evaluation. Each had received conventional radiation doses to the head for tumors not involving the hypothalamus or pituitary, and demonstrated clinical and laboratory evidence of hormonal deficiencies several years after treatment. Six had significant height retardation. Growth hormone deficiency was documented in all by lack of response to provocative insulin, arginine, and/or l-dopa stimulation. ACTH function was evaluated by plasma cortisol response to insulin hypoglycemia in 7; one had a subnormal response. Plasma gonadotropins were measured after lutenizing hormone releasing factor (LRF) in 7 patients; only one had an abnormal response for age and stage of sexual maturation. Foresight in treatment planning and careful follow-up of patients receiving irradiation to the head is critical, since hypothalamic-pituitary deficiencies which may occur insidiously over many years, can largely be compensated.

Cross sectional and longitudinal studies of plasma FSH and LH in 58 patients, age 2 days of 20 yr, with the syndrome of gonadal dysgenesis show a diphasic pattern of gonadotropin secretion. The mean basal plasma FSH level is 43 plus or minus 7 (SE) ng/ml (LER-869) in patients from 2 days to 4 yr, which is strikingly elevated. Thereafter, a decline in plasma FSH to a mean level of 4 plus or minus 0.7 (SE) ng/ml occurs between 4 and 10 yr, followed by a rise after 10 yr to 61 plus or minus 4 (SE) ng/ml. The pattern of LH (LER-960) secretion is qualitatively similar to that of FSH, although quantitatively the values for LH are 1/3 to 1/10 those for FSH. The similarity of pattern of gonadotropin secretion observed between patients with gonadal dysgenesis and normal children suggests that gonadal function does not play a decisive role in the pattern of gonadotropin secretion from infancy through adolescence, but exercises striking effects on the quantity of gonadotropin secreted.