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PubMed1995

Review of the embryologic development of the pituitary gland and report of a case of hypophyseal duplication detected by MRI.

We describe the clinical manifestations, associated abnormalities, MRI appearances and pathologic significance of a case of hypophyseal duplication. A 16-year-old girl presented with delayed sexual development and history of midline craniofacial anomalies. MRI revealed paired infundibula extending inferiorly to two small pituitary glands, a midline hypothalamic mass, and a midline cleft in the basisphenoid. Twelve cases of pituitary duplication have previously been described. The suggested pathogenesis is duplication of the prechordal plate and anterior end of the notochord during early embryologic development.

Abnormalities, Drug-Induced↗
PubMed1995

Expectant management of a hypothalamic mass: a case report.

BACKGROUND: Although hypothalamic masses are usually benign, they may infiltrate hypothalamic-pituitary structures, resulting in multiple endocrinopathies, optic nerve damage, increased intracranial pressure, and death. Controversy exists regarding proper management. CASE: A young woman with a hypothalamic mass suggestive of craniopharyngioma presented with pubertal delay and hypothalamic amenorrhea without evidence of progression over 4 years. She was given sex steroid replacement and observed, thereby avoiding surgery or radiotherapy. CONCLUSION: Large hypothalamic masses may present with minimal signs and symptoms that are not life threatening. Without more serious symptoms, these can be managed expectantly to avoid the risks of panhypopituitarism, diabetes insipidus, vision loss, and cerebrovascular accidents resulting from any therapy.

Adult↗
PubMedDate not supplied

Growth and endocrine function following bone marrow transplantation for thalassemia major.

Thalassemia major (TM) patients frequently suffer from growth delay and endocrine dysfunction. Thirty-two TM patients who had survived more than 2 years after bone marrow transplantation (BMT) were recruited for growth and endocrine study. Patients were followed up annually for growth, and the height was expressed as height standard deviation score (HtSDS). The HtSDS at baseline was -1.51 and was more reduced in patients older than 7 years (-1.99) as compared with those younger patients (-0.79) (p =.027). The HtSDS gradually improved after BMT and increased by 0.59 (CI 0.16-1.01) at 5 years after BMT. Forty percent of patients were below 2 SD at time of BMT but this decreased to 15% at the latest assessment. The hormonal profiles of gonadotrophins, sex hormones, and thyroid function were assayed regularly after BMT. With a median follow-up of 67 months, ovarian failure was universal among the 10 girls evaluable for puberty and all required hormonal replacement. Eight of 10 boys had spontaneous puberty but 3 of them had gonadal impairment. One patient developed diabetes mellitus and one had growth hormone deficiency after BMT. In conclusion, improvement of growth after BMT in TM was common. Gonadal failure is universal in girls, and boys were less affected.

Adolescent↗
PubMed2000

Kallmann's syndrome: clues to clinical diagnosis.

Hypogonadotropic patients may visit pediatricians, general practitioners, endocrinologists or urologists, presenting with microphallus, cryptochidism or pubertas tarda and delayed bone maturation. Congenital hypogonadotropic hypogonadism is characterized, apart from small testes, by the constellation of low serum levels of testosterone, LH and FSH. Kallman's syndrome is characterized by congenital hypogonadotropic hypogonadism with midline defects such as anosmia (a deficiency of the sense of smell). The first case report dates back to 1856, and genetic defects causing the syndrome have been recently described. The diagnosis can be clinically suspected and is established by confirming hormonal studies.

Adolescent↗
PubMed1982

Responsiveness of gonadotropin secretion to infusion of an opiate-receptor antagonist in hypogonadotropic individuals.

We tested the hypothesis that suppressive effects of endogenous opiate substances are involved in certain hypogonadotropic states. For this purpose, we studied gonadotropin secretion in idiopathic hypopituitarism (five children), constitutionally delayed adolescence (five boys), and Kallmann's syndrome (three men). Endogenous opiate pathways were antagonized by the iv infusion of naloxone hydrochloride at a dose previously shown to elicit a prompt and significant increase in serum levels of LH in normal men. Under these conditions, naloxone did not increase serially sampled serum concentrations or mean urinary levels of LH: or FSH in eight patients with idiopathic hypopituitarism or Kallmann's syndrome. Gonadotropin concentrations in four of five patients with constitutional delay of adolescence also were unaffected. In one boy with clinical and biochemical indices of late pubertal development, naloxone elicited a significant increase in LH levels in blood and urine, similar to the pattern observed in normal men. In contrast to results in experimental animals, naloxone did not suppress serum PRL concentration significantly in any subject. These observations suggest that: 1) endogenous opiate mechanisms are unlikely to constitute a principal factor in maintaining hypogonadotropism in idiopathic hypopituitarism, delayed adolescence, or Kallmann's syndrome, at least acutely; 2) endogenous opiate mechanisms also cannot be implicated in the acute regulation or PRL secretion in children; and 3) the capability of adult men, but not early pubertal boys, to respond with increased gonadotropin secretion during inhibition of opiate receptors suggests that maturation of the opiate-related neuroendocrine system occurs during the course of sexual development in the human.

Adolescent↗
PubMed1999

Microalbuminuria prevalence varies with age, sex, and puberty in children with type 1 diabetes followed from diagnosis in a longitudinal study. Oxford Regional Prospective Study Group.

OBJECTIVE: The predictive value of microalbuminuria (MA) in children with type 1 diabetes has not been defined. We describe the natural history of MA in a large cohort of children recruited at diagnosis of type 1 diabetes. RESEARCH DESIGN AND METHODS: Between 1985 and 1996, 514 children (279 male) who developed type 1 diabetes before the age of 16 years (91% of those eligible from a region where ascertainment of new cases is 95%) were recruited for a longitudinal study with central annual assessment of HbAlc and albumin excretion (three urine samples). Dropout rates have been < 1% per year, and 287 children have been followed for > 4.5 years. RESULTS: MA (defined as albumin-to-creatinine ratio > or = 3.5 and > or = 4.0 mg/mmol in boys and girls, respectively) developed in 63 (12.8%) and was persistent in 22 (4.8%) of the subjects. The cumulative probability (based on the Kaplan-Meier method) for developing MA was 40% after 11 years. HbAlc was worse in those who developed MA than in others (mean difference +/- SEM: 1.1% +/- 0.2, P < 0.001). In subjects who had been 5-11 years of age when their diabetes was diagnosed, the appearance of MA was delayed until puberty, whereas of those whose age was < 5 years at diagnosis of diabetes, 5 of 11 (45%) developed MA before puberty. The adjusted proportional probability (Cox model) of MA was greater for female subjects (200%), after pubertal onset (310%), and with greater HbAlc (36% increase for every 1% increase in HbAlc). Despite earlier differences based on age at diagnosis of diabetes (< 5, 5-11, and > 11 years), the overall cumulative risks in these groups were similar (38 vs. 29 vs. 39%, respectively) after 10 years' duration of diabetes. CONCLUSIONS: Prepubertal duration of diabetes and prepubertal hyperglycemia contribute to the risk of postpubertal MA. The differences in rates of development of MA relating to HbAlc, sex, and age at diagnosis relative to puberty may have long-term consequences for the risk of subsequent nephropathy and for cardiovascular risk.

Adolescent↗
PubMed1987

Isolated gonadotropin deficiency in boys: clinical characteristics and growth.

Analysis of the clinical findings and growth in 20 boys with isolated gonadotropin deficiency revealed a heterogeneous group of physical abnormalities. Ten of these patients were hyposmic or anosmic (Kallmann syndrome). Abnormalities found in our patients included undescended testes, gynecomastia, and ocular or skeletal anomalies. Regardless of the presence of hyposmia, patients without testicular enlargement (less than 2 cm3), had serum luteinizing hormone (LH) responses to luteinizing hormone-releasing factor (LRF) that were the same as in prepubertal boys. By contrast, five boys with testicular enlargement (greater than 2 cm3), some of whom had hyposmia, had a greater serum LH response to LRF than did prepubertal boys. Adrenarche was moderately delayed; although all boys initially had normal serum levels of dehydroepiandrosterone-sulfate, four boys eventually developed elevated serum levels. Bone ages were delayed compared with chronologic age in boys who had the condition after 15 years of age. The rate of linear growth was normal, and final adult heights were normal with testosterone therapy, although linear growth continued longer in these boys than in boys with normal pubertal progression. Although none of the patients was obese at the time of diagnosis, three patients developed obesity after initiation of testosterone therapy.

Adolescent↗
PubMed1990

[Delay in sexual development secondary to juvenile nasopharyngeal angiofibroma].

The angiofibroma of the nasopharynx is a benign tumor, sitting in the epipharynx of adolescents, but considered malignant owing to its local spreading power. Aside from the characteristics symptoms -nose bleeding and nasal obstruction- the A. of the paper has signaled a certain delay in the secondary sexual maturity of 2 of the 6 youth in all studied. In these 2 the tumor was detected at 9 and 12 years-of-age, respectively. Furthermore, these 2, showed destruction of inner structures of the nose when surgery was undertaken; adversely the other 4 showed normal inner nasal structures. The whole group was followed up for ten years, and only those 2 needed a treatment with chorionic gonadotrophin for the completeness of secondary sexual aspects.

Adolescent↗
PubMed2003

Clinical presentation and outcome of pituitary adenomas in teenagers.

OBJECTIVE: Pituitary adenomas rarely occur in childhood and adolescence, but their mass effect and endocrine abnormalities can compromise both quality and length of life. In this study we evaluated the symptoms at onset and the long-term consequences induced in teenagers by functioning or nonfunctioning pituitary adenomas. DESIGN AND PATIENTS: Clinical, biochemical and neuroradiological data of 44 young patients (12 males and 32 females, aged 16.3 +/- 1.9 years at diagnosis) with pituitary adenomas were evaluated retrospectively at baseline and after therapy. Patients underwent surgery, radiotherapy and/or medical treatment depending on clinical history and endocrine secretion of the tumour. Follow-up ranged from 8 to 252 months (median 55 months). MEASUREMENTS: Baseline and dynamic pituitary function were evaluated in all cases at diagnosis and after treatments. Magnetic resonance imaging (MRI) or computed tomography (CT) scan were performed before therapy and during follow-up. Hormone levels were measured using commercial radioimmunologic or immunoradiometric methods. RESULTS: Pituitary macroadenomas (group 1) or microadenomas (group 2) were found in 61% and 39% of cases, respectively. Overall, 68% were PRL-secreting, 7% GH-secreting, 5% ACTH-secreting and 20% nonfunctioning. The most frequent symptoms at onset were oligoamenorrhoea (62%) and galactorrhoea (59%) in the girls, and headache (58%) in the boys. Pubertal development was delayed in 12/27 (44%) cases with macroadenoma. Growth failure was observed in 4/44 (9%) patients (3 in group 1 and 1 in group 2). At diagnosis, hypopituitarism was detected in 10/27 (37%) patients with macroadenoma. Surgery alone cured 4/18 (22%) and 4/9 (44%) patients in group 1 and group 2, respectively. Adjuvant therapies (second surgery and/or radiotherapy and/or medical treatment) cured the disease in 2/13 (15%) patients with macroadenoma and allowed a persistent normalization in other 4/13 (31%) and 2/4 (50%) cases in group 1 and group 2, respectively. Medical treatment alone cured 2/9 (22%) patients with PRL-secreting macroadenoma and normalized PRL levels in another six (66%) with macroprolactinoma and in 2/7 (28%) patients with microprolactinoma. CONCLUSION: Delay of growth was rarely observed in teenagers with pituitary adenomas. At the onset of the disease, many girls complained of oligoamenorrhoea and galactorrhoea, while headache and delay of pubertal development were the symptoms more frequently referred by boys. Surgery alone was effective in a minority of patients and adjuvant therapies were helpful to obtain the remission of the disease in many cases. In patients with PRL-secreting pituitary adenoma, medical treatment, both as first choice or as adjuvant therapy, normalizes serum PRL levels in 14/27 (52%) cases.

Adenoma↗
PubMed1988

Metabolic studies in primary tubular hypomagnesaemia-hypokalaemia.

13 1/2 year old boy with short stature and pubertal delay had infrequent episodes of tetany. Biochemical determinations demonstrated low plasma and high urinary magnesium and potassium levels, hypocalciuria, slightly increased plasma bicarbonate, slightly reduced fractional distal reabsorption of chloride and sodium, high plasma renin activity and high urinary excretion of prostaglandins (E2, F2 alpha). The other parameters of renal functions were normal. Endocrine evaluation of short stature and pubertal delay was normal. Intracellular magnesium and potassium levels in lymphocytes and erythrocytes were within normal limits. Cyclooxygenase blockade with Indomethacin 2.5 mg/kg daily during 4 weeks normalized urinary excretion of prostaglandins and corrected in part low plasma and high urinary potassium levels, but had no effect on magnesium, calcium, sodium and chloride handling. These data raise the possibility that tubular hypomagnesaemia-hypokalaemia could be solely explained by a low renal threshold for magnesium.

Adolescent↗
PubMed2005

Idiopathic hypogonadotrophic hypogonadism associated with arachnoid cyst of the middle fossa and forebrain anomalies: presentation of an unusual case.

We report a 22-yr-old male patient with hypogonadotrophic hypogonadism (HH) associated with a giant middle fossa arachnoid cyst (AC) diagnosed by magnetic resonance imaging (MRI). He presented with pubertal and growth delay. He also had learning disabilities and anosmia. Laboratory investigation revealed pre-pubertal levels of testosterone and normal results of the combined test of anterior pituitary function, except for in GnRH acute and prolonged test. Cranial MRI showed an AC in left middle fossa with expansion to suprasellar cisterna and several abnormalities like left temporal lobe hypoplasia, left optic tract and bilateral olfactory bulb hypoplasia and left hypothalamic hypoplasia.

Adult↗
PubMed2003

Adult height after cranial irradiation for optic pathway tumors: relationship with neurofibromatosis.

OBJECTIVE: Optic pathway tumors decrease adult height by central precocious puberty (PP) or hypothalamic-pituitary disorders, particularly growth hormone (GH) deficiency caused by the tumor, management of the tumor, or associated neurofibromatosis 1. The objective of this study was to evaluate the respective roles of these factors on disorders and adult height. STUDY DESIGN: Thirty-five patients with optic pathway tumors diagnosed at 6.4 +/- 0.6 years treated by cranial irradiation (30-56 Gy) reached adult height after treatment with GH alone (n = 16), gonadotropin hormone-releasing hormone analogue alone (n = 2), or both (n = 16). RESULTS: Central precocious puberty occurred before irradiation in four cases and after irradiation in 18. Eleven of the 17 patients with neurofibromatosis 1 had PP. Before irradiation, five of 21 patients lacked GH, zero of 21 lacked thyroid-stimulating hormone, and zero of 13 lacked adrenocorticotropin. After irradiation, 35 of 35 lacked GH, 28 of 35 lacked thyroid-stimulating hormone, and six of 35 lacked adrenocorticotropin; puberty was delayed in 15 patients. Adult height was -0.8 +/- 0.2 SD, below target height (0.2 +/- 0.2 SD, P <.0001), similar in patients with and without PP, but lower in those with neurofibromatosis 1 (-1.4 +/- 0.4 SD) than in those without (-0.3 +/- 0.3 SD, P =.04). CONCLUSIONS: Optic pathway tumors cause PP, but cranial irradiation causes most of the other hypothalamic-pituitary disorders. Adult height of patients given GH or gonadotropin hormone-releasing hormone analogue seems to depend on neurofibromatosis 1.

Body Height↗
PubMed1983

Familial short stature and coeliac disease: a family case report.

A case of coeliac disease associated with growth retardation and pubertal failure in a 19 year old female is reported. Diagnosis was delayed by use of the term 'undiagnosed short stature'. Investigations confirmed severe malabsorption, osteoporosis and marked delay in bone growth associated with small bowel mucosal atrophy. HLA screening of the patient's family led to the identification of coeliac disease in her brother aged 12 years and her asymptomatic mother both of whom were short in stature. The institution of a gluten free diet, appropriate vitamin and mineral supplements has restored growth and sexual development to normal in the affected children. These cases emphasize the variable nature of coeliac disease, its familial occurrence and the need to exclude the disorder in cases of undiagnosed (familial) short stature.

Adult↗
PubMed1983

Effect of urinary bilharzial infection on male pubertal development and endocrine functions.

One hundred seventy-five males aged 9-20 years were selected. The subjects comprised two groups; controls and patients infected with urinary bilharziasis not associated with any other parasite. Pubertal development was assessed. Serum levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and progesterone were determined by radioimmunoassay procedure. Delay in pubertal development was evident in the normal control group as indicated by higher chronological age mean values at the various stages as compared to other world norms. Urinary bilharziasis exaggerated the delay in pubertal development as compared to that in the control group. In relation to the control group, the group with urinary bilharziasis had higher levels of serum FSH and LH, which were significant only at stages III and IV. No significant difference was noted between the two groups for serum testosterone and progesterone levels, except for the high progesterone mean value at stage V in the group with urinary bilharziasis.

Adolescent↗
PubMed1985

A follow-up study of the effects of early malnutrition on subsequent development. I. Physical growth and sexual maturation during adolescence.

A follow-up study of growth and development was conducted on 216 Barbadian children aged 9 to 15 yr, half of whom had histories of moderate to severe protein-energy malnutrition in their 1st yr of life. Although index girls had significant delays in sexual maturation and were reduced relative to comparison girls on measures of weight for height, arm circumference, and skinfold thickness, their rate of growth when compared with values obtained 4 yr earlier was equal to or better than that of the comparison group. In contrast, boys in the index group were slightly reduced in height compared with their matched comparisons and had similar patterns of growth and sexual maturation. This study suggests a relationship between an episode of infantile malnutrition and impaired endocrine functioning among girls in the adolescent years.

Adolescent↗
PubMed1999

Endocrine complications of bone marrow transplantation in children.

Eighty-seven patients had a bone marrow transplantation (BMT) at our institution between 1980 and 1992. We wished to study the endocrine complications that accompany this procedure as long-term survival is now much more common. Forty-three patients were retrospectively available for review and their records were examined for evidence of thyroid, pubertal, and growth complications. Fifteen per cent of the patients showed evidence of thyroid involvement. Pubertal delay or gonadal damage was almost universal in pubertal-aged girls treated with busulfan/cyclophosphamide. Gonadal involvement was more frequent in girls than in boys (70% vs. 47%). Sixty per cent of children were shorter or grew at a slower rate. Sixty-five per cent of the children presented with one or more endocrine complications. These are the combined effects of different treatment regimens (chemotherapy, radiotherapy, combined therapy). It is essential to know the natural history of these patients in order to offer proper guidance and treatment as survival rates are increasing.

Adolescent↗
PubMed2005

Altered bone mass in children at diagnosis of Crohn disease: a pilot study.

OBJECTIVES: Recent studies have indicated that bone mineral density is reduced in children with inflammatory bowel disease. The exact cause of this reduction is unclear, but it is often attributed to corticosteroid use. This study examined the prevalence of reduced bone mass in otherwise healthy children newly diagnosed with Crohn disease without previous corticosteroid exposure. METHODS: Eighteen steroid-naive children newly diagnosed with Crohn disease underwent dual energy x-ray absorptiometry. Disease activity, growth and pubertal development, nutritional assessment and bone mass measurements were recorded. z scores were adjusted for bone age. RESULTS: Five of the 18 patients (28%) had a total bone mineral density z score less than -1 (one had a z score less than -2). Ten (56%) subjects had lumbar spine bone mineral density z scores less than -1 (two had z score less than -2). The subjects had significantly reduced mean lumbar spine bone mineral density z scores (P = 0.002). Delayed pubertal development correlated with whole body bone mineral density z scores (r = 0.64; P = 0.004). Most subjects were not meeting United States recommended dietary allowances for daily intake of calcium, vitamin D and total calories. The majority of subjects were not participating in weight-bearing physical activity. CONCLUSION: Decreased bone mass is common in steroid naive children newly diagnosed with Crohn disease. Crohn disease appears to contribute to impaired bone mass independent of corticosteroid therapy.

Absorptiometry, Photon↗
PubMed1985

Growth and sexual maturation in thalassemia major.

Growth and sexual development were evaluated in 250 adolescents with beta-thalassemia major. Before transfusion hemoglobin concentration had not been less than 9.5 gm/dl in the last 5 years; desferrioxamine had been administered for 7 to 10 years, including by the subcutaneous route for 3 years. Thirty-seven percent of patients were found to be 2 SD below the mean for normal height; after age 14 years the percentage was 62% for males and 35% for females. Eighty-three percent of males and 75% of females had delayed skeletal maturation. Complete lack of pubescent changes was present in 38% of females and 67% of males aged 12 to 18 years. Only 19% of females had experienced menarche; secondary amenorrhea intervened in a third of them. A multiple regression analysis of indicators of pubertal development with age, age at first transfusion, age at splenectomy, number of transfusions, serum transaminase and ferritin, and duration and intensity of chelation therapy failed to identify the factors responsible for the variation observed in sexual maturation among patients with thalassemia.

Adolescent↗