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1.
Arch. endocrinol. metab. (Online) ; 68: e220254, 2024. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1520079

ABSTRACT

ABSTRACT Objective: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectrum of 11 causative genes in Turkish patients with CH. Materials and methods: This study included 47 patients [21 girls (44.6%) and 26 boys (55.4%)] from 45 families. To identify the genetic etiology, we screened 11 candidate genes associated with CH using next-generation sequencing. To confirm and detect the status of the specific familial variant in relatives, Sanger sequencing was also performed. Results: We identified 12 possible pathogenic variants in GHRHR, GH1, GLI2, PROP-1, POU1F1, and LHX4 in 11 patients (23.4%), of which six were novel variants: two in GHRHR, two in POU1F1, one in GLI2, and one in LHX4. In all patients, these variants were most frequently found in GLI2, followed by PROP-1 and GHRHR. Conclusion: Genetic causes were determined in only 23.4% of all patients with CH and 63% of molecularly diagnosed patients (7/11) from consanguineous families. Despite advances in genetics, we were unable to identify the genetic etiology of most patients with CH, suggesting the effect of unknown genes or environmental factors. More genetic studies are necessary to understand the etiology of CH.

2.
Arch. endocrinol. metab. (Online) ; 63(2): 167-174, Mar.-Apr. 2019. tab, graf
Article in English | LILACS | ID: biblio-1001214

ABSTRACT

ABSTRACT The first description of patients with combined pituitary hormone deficiencies (CPHD) caused by PROP1 mutations was made 20 years ago. Here we updated the clinical and genetic characteristics of patients with PROP1 mutations and summarized the phenotypes of 14 patients with 7 different pathogenic PROP1 mutations followed at the Hospital das Clínicas of the University of Sao Paulo. In addition to deficiencies in GH, TSH, PRL and gonadotropins some patients develop late ACTH deficiency. Therefore, patients with PROP1 mutations require permanent surveillance. On magnetic resonance imaging, the pituitary stalk is normal, and the posterior lobe is in the normal position. The anterior lobe in patients with PROP1 mutations is usually hypoplastic but may be normal or even enlarged. Bi-allelic PROP1 mutations are currently the most frequently recognized genetic cause of CPHD worldwide. PROP1 defects occur more frequently among offspring of consanguineous parents and familial cases, but they also occur in sporadic cases, especially in countries in which the prevalence of PROP1 mutations is relatively high. We classified all reported PROP1 variants described to date according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP) guidelines: 29 were pathogenic, 2 were likely pathogenic, and 2 were of unknown significance. An expansion of the phenotype of patients with PROP1 mutations was observed since the first description 20 years ago: variable anterior pituitary size, different pathogenic mutations, and late development of ACTH deficiency. PROP1 mutations are the most common cause of autosomal recessive CPHD with a topic posterior pituitary lobe. Arch Endocrinol Metab. 2019;63(2):167-74


Subject(s)
Humans , Male , Female , Homeodomain Proteins/genetics , Mutation/genetics , Phenotype , Septo-Optic Dysplasia/genetics , Hypopituitarism/genetics
3.
Arch. argent. pediatr ; 115(3): 170-174, jun. 2017. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-887330

ABSTRACT

El síndrome de Cornelia de Lange es una enfermedad genética caracterizada por rasgos faciales distintivos, falla de medro, microcefalia y varias malformaciones asociadas. Sus principales alteraciones endocrinológicas son las anomalías genitales. Se presenta un adolescente de 13 años, tratado por neumonía aspirativa complicada y que presentaba el fenotipo del síndrome de Cornelia de Lange, que incluía retraso global del desarrollo, trastorno de succión-deglución, talla baja y alteración del desarrollo sexual. Su edad ósea era muy retrasada, por lo que se realizó un estudio endocrinológico completo. Se le diagnosticaron hipotiroidismo central, deficiencia de la hormona de crecimiento y deficiencia de hormona luteotrópica y folículoestimulante, compatibles con el diagnóstico de deficiencias hormonales pituitáricas múltiples. Tuvo cortisol basal, hormona adrenocorticotrópica y prolactina normales. Recibió suplencia hormonal tiroidea. Es inusual la asociación de este síndrome con deficiencias hormonales pituitáricas múltiples. Se sugiere la evaluación de los distintos ejes endócrinos en estos pacientes.


Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients.


Subject(s)
Humans , Male , Adolescent , De Lange Syndrome/complications , De Lange Syndrome/diagnosis , Hypopituitarism/complications , Hypopituitarism/diagnosis , Phenotype
4.
Annals of Pediatric Endocrinology & Metabolism ; : 55-59, 2017.
Article in English | WPRIM | ID: wpr-226723

ABSTRACT

Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD) caused by pituitary stalk interruption syndrome (PSIS). The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD). Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.


Subject(s)
Adult , Female , Humans , Brain , Craniopharyngioma , Diagnosis , Dyslipidemias , Growth Hormone , Hyperinsulinism , Hyperprolactinemia , Insulin , Leptin , Obesity , Osteoporosis , Parents , Parturition , Physical Examination , Pituitary Gland , Seizures
5.
Yonsei Medical Journal ; : 527-532, 2017.
Article in English | WPRIM | ID: wpr-188817

ABSTRACT

PURPOSE: Congenital hypopituitarism is caused by mutations in pituitary transcription factors involved in the development of the hypothalamic-pituitary axis. Mutation frequencies of genes involved in congenital hypopituitarism are extremely low and vary substantially between ethnicities. This study was undertaken to compare the clinical, endocrinological, and radiological features of patients with an isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD). MATERIALS AND METHODS: This study included 27 patients with sporadic IGHD and CPHD. A mutation analysis of the POU1F1, PROP1, LHX3, LHX4, and HESX1 genes was performed using genomic DNA from peripheral blood leukocytes. RESULTS: IGHD and CPHD were observed in 4 and 23 patients, respectively. Mean age at diagnosis was 8.28±7.25 years for IGHD and 13.48±10.46 years for CPHD (p=0.37). Serum insulin-like growth factor-1 and peak growth hormone (GH) levels following GH stimulation tests were significantly lower in patients with CPHD than in those with IGHD (p<0.05). Sellar MRI findings revealed structural abnormalities in 3 patients with IGHD (75%) and 21 patients with CPHD (91.3%) (p=0.62). A mutation analysis identified homozygous p.R109Q mutations in HESX1 in a patient with CPHD. Patients with CPHD had more severe GHD than those with IGHD. CONCLUSION: The frequency of defects in the genes encoding pituitary transcription factors was extremely low in Korean patients with congenital hypopituitarism. Environmental factors and the impact of other causative genes may contribute to this clinical phenotype.


Subject(s)
Humans , Diagnosis , DNA , Dwarfism, Pituitary , Growth Hormone , Hypopituitarism , Korea , Leukocytes , Magnetic Resonance Imaging , Mutation Rate , Phenotype , Transcription Factors
6.
Chinese Journal of Endocrinology and Metabolism ; (12): 528-529, 2015.
Article in Chinese | WPRIM | ID: wpr-467381

ABSTRACT

[Summary] Patients with infertility and non-obese polycystic ovary syndrome ( PCOS) were treated with continuous subcutaneous pulse infusion of GnRH. After the treatment, a 32-year old female had regular menstrual cramps. Dominant follicle occurred after 2 months of treatment. The patient was pregnant and now has a healthy baby boy. It shows that the pulse infusion of GnRH could induce spontaneous ovulation and natural fertilization of the patients with non-obese PCOS.

7.
Chinese Journal of Endocrine Surgery ; (6): 491-494, 2014.
Article in Chinese | WPRIM | ID: wpr-621949

ABSTRACT

Objective To explore the risk of pituitary dysfunction for spontaneous subarachnoid hemor -rhage( s-SAH) patients and to evaluate its correlation with clinical data .Methods 63 cases of patients with s-SAH were selected.Indicators(serum adrenocorti cotrophic hormone (ACTH), growth hormone(GH), insulin-like growth factor-1(IGF-1), thyroid stimulating hormone(TSH), thyroxine(T4), triiodothyronine(T3), folli-cle-stimulating hormone(FSH), luteinizing hormone(LH), total testosterone(in males), estradiol(in females) and prolactin)dynamic observation were tested 7 days, 1 year, 2 years, 3 years after the onset.Results Thirty patients( 47.6%) had some type of pituitary dysfunction .ACTH deficiency was the most frequent disorder (14.3%), followed by GH deficiency(12.7%), hypogonadatrophic(6.3%), hypothyroidism(3.2%)and high prolactin(1.6%).six patients(9.5%)showed deficiencies in more than one axis .Hormone deficiency was relat-ed to vasospasm, Fisher grade 4(P<0.05)and recovery time.Conclusions A greater incidence of hormone de-ficiency after s-SAH was related with vasospasm , Fisher grade and recovery time .Follow-up time should be ex-tended.

8.
Journal of Korean Medical Science ; : 405-410, 2014.
Article in English | WPRIM | ID: wpr-112005

ABSTRACT

Pituitary adenoma (PA) is a common benign neuroendocrine tumor; however, the incidence and proportion of hormone-producing PAs in Korean patients remain unknown. Authors analyzed 506 surgically resected and pathologically proven pituitary lesions of the Seoul National University Hospital from 2006 to 2011. The lesions were categorized as: PAs (n = 422, 83.4%), Rathke's cleft cysts (RCCs) (n = 54, 10.6%), inflammatory lesions (n = 8, 1.6%), meningiomas (n = 4), craniopharyngiomas (n = 4), granular cell tumors (n = 1), metastatic renal cell carcinomas (n = 2), germinomas (n = 1), ependymomas (n = 1), and unsatisfactory specimens (n = 9, 1.8%). PAs were slightly more prevalent in women (M: F = 1:1.17) with a mean age of 48.8 yr (9-80 yr). Immunohistochemical analysis revealed that prolactin-producing PAs (16.6%) and growth hormone-producing adenomas (9.2%) were the most common functional PAs. Plurihormonal PAs and nonfunctioning (null cell) adenomas were found in 14.9% and 42.4% of patients with PAs, respectively. The recurrence rate of PAs was 11.1%, but nearly 0% for the remaining benign lesions such as RCCs. 25.4% of patients with PAs were treated by gamma-knife after surgery due to residual tumors or regrowth of residual tumor. In conclusion, the pituitary lesions and the proportions of hormone-producing PAs in Korean patients are similar to those of previous reports except nonfunctioning (null cell) PAs, which are unusually frequent.


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Humans , Male , Middle Aged , Young Adult , Adenoma/pathology , Age Factors , Central Nervous System Cysts/pathology , Growth Hormone/metabolism , Immunohistochemistry , Pituitary Neoplasms/pathology , Prolactin/metabolism , Recurrence , Sex Factors
9.
Chinese Journal of Endocrinology and Metabolism ; (12): 197-200, 2014.
Article in Chinese | WPRIM | ID: wpr-446968

ABSTRACT

Objective To apply continuous subcutaneous pulse infusion of gonadotropin-releasing hormone (GnRH) to treat patients with central secondary amenorrhea,and to observe the induction of spontaneous ovulation and natural fertilization.Methods Using micro-pulse infusion pumps with each 90-minute infusion of LHRH 10 μg daily,the serum LH,FSH,estrogen,and progesterone levels ; and change in endometrium and ovarian size before and after treatment were monitored.The end point is natural pregnancy.Results The levels of serum LH,FSH,and estrogen were obviously increased after 4 weeks of treatment.The natural menstrual cycle was rebuilt after 8 weeks of treatment.The patient was pregnant and the treatment was stopped by 16 weeks.The experience of pregnancy was favourable.40 weeks later,the patient delivered a healthy female infant via caesarean section.Conclusions It was the first time in China that the technology of micro GnRH pump was applied in patients with secondary central amenorrhea.The result demonstrates that this technology can perfectly simulate the physiology of hypothalamic GnRH secretion.At present,more patients are included in this research to confirm the effectiveness.

10.
Endocrinology and Metabolism ; : 38-43, 2011.
Article in Korean | WPRIM | ID: wpr-34105

ABSTRACT

BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare disease that involves a clonal proliferation of Langerhans cells. LCH has a predilection for hypothalamo-pituitary axis (HPA) dysfunction, and this leads to diabetes insipidus (DI) and/or anterior pituitary dysfunction. Here, we describe the endocrine dysfunction and clinical characteristics of adult patients with LCH and we analyzed the differences between an adult-onset type and a childhood-onset type. METHODS: The data was obtained from a retrospective chart review of the patients with LCH that involved the HPA and who attended Seoul National University Hospital. The patients were classified into the adult-onset type (age at the time of diagnosis > or = 16) and the childhood-onset type (age at the time of diagnosis < or = 15). RESULTS: Ten patients (9 males and 1 female) were diagnosed with LCH involving the HPA. Five patients were classified as an adultonset type and the other five patients were classified as a childhood-onset type. The median follow-up duration was 6 (3-12) years for the adult-onset type and 16 (15-22) years for the childhood-onset type. All the patients presented with DI as the initial manifestation of HPA involvement. Four adult-onset patients and three childhood-onset patients had a multi-system disease. Panhypopituitarism developed in three adult-onset patients and in one childhood-onset patient. The pituitary lesion of the three adult-onset patients had spread to the brain during the follow-up duration. In contrast, the pituitary lesion of the other two adult-onset patients without panhypopituitarism and all the childhood-onset patients had not changed. CONCLUSION: DI was the initial presentation symptom of HPA involvement. Anterior pituitary hormone deficiency followed in some patients. Compared with the childhood-onset patients, the adult-onset patients were more likely to have panhypopituitarism and a poor prognosis.


Subject(s)
Adult , Humans , Male , Brain , Diabetes Insipidus , Follow-Up Studies , Histiocytosis, Langerhans-Cell , Hypopituitarism , Langerhans Cells , Prognosis , Rare Diseases , Retrospective Studies , Axis, Cervical Vertebra
11.
Mongolian Medical Sciences ; : 2-5, 2010.
Article in English | WPRIM | ID: wpr-975447

ABSTRACT

INTRODUCTION: Gonadotropins are released under the control of gonadotropin-releasing hormone (GnRH) from thearcuate nucleus and preoptic area of the hypothalamus. The gonads — testes and ovaries — are the primary targetorgans for LH and FSH. The gonadotropins affect multiple cell types and elicit multiple responses from the targetorgans. As a simplified generalization, LH stimulates the Leydig cells of the testes and the theca cells of the ovaries to produce testosterone (and indirectly estradiol), while FSH stimulates the spermatogenic tissue of the testes andthe granulosa cells of ovarian follicles.Reproductive aging is endocrinologically characterized by a progressive rise in serum FSH levels associated with adecrease in serum estradiol (E2) and testosterone (T) levels. The rise in FSH is associated with reduced levels of sexsteroid and peptide negative feedback regulators of FSH secretion.The aim of study is: determination of serum FSH level changes in relation to aging and sex.MATERIALS AND METHODS: In this study were involved 169 healthy Mongolian adults aged above 45 years old. Subjectswere randomly selected and undergone physical examination by geriatrician. People, who are receiving hormonereplacement therapy, using inproper use of alcohol, injured and had surgery were excluded from our surgery. Bloodsamples were collected in the early morning (8.30–10.30 AM) after an all night fast and plasma was separatedimmediately by centrifugation; then sera obtained were stored at -20°C until assayed by ELISA kit from United BiotechCoLTD, USA, which sensitivity is 1mIU/ml. Statistical analyses have been performed by statistical software SPSS 16,using ANOVA, Pearson correlation, T-test.RESULT: Mean level of FSH for both sexes was 21.19±16.2 mIU/ml, which is in comparison with males (12.33±10.58mIU/ml) it was comparatively higher (p0.05), but in women it was stronger correlation (r=0.203, p<0.05). in 51-60 years age group FSH wasincreased by 56%, in 61-65 years group by 91%, in 66-70 years group it was increased 100% in comparison with until50 years age group. In older age (above 70 years) it decreased to 70% from reached concentration. ANOVA analysishas not showed significant difference between age groups.CONCLUSIONS: Average mean of FSH in old age are: 29.61±16.15 mIU/ml in women and 12.33±10.58 mIU/ml in men.Correlation with aging was observed stronger in women than in man (r=0.203, p<0.05). FSH increases with aging untilround 70 and decreases after 70 years old.

12.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 944-946, 2010.
Article in Chinese | WPRIM | ID: wpr-964182

ABSTRACT

@#The change of pitutary hormones can occur in any time after traumatic brain injury, the main cause is primary or secondary impairment of hypothalamus as well as pituitary after brain injury. It is important to further research when to test hormone and to carry on the hormone replacement therapy.

13.
Rev. argent. endocrinol. metab ; 46(1): 24-38, ene.-mar. 2009. tab
Article in Spanish | LILACS | ID: lil-641948

ABSTRACT

Los avances en el tratamiento de las enfermedades oncológicas en la infancia y adolescencia han permitido que la tasa de sobrevida en niños tratados por cáncer aumente progresivamente. Alrededor del 70% de los pacientes pediátricos tratados por tumores del SNC, el 80% por leucemias linfoblásticas agudas y más del 90% por linfoma de Hodgkin sobreviven a los mismos. Los trastornos endocrinos de los diferentes ejes se observan en un alto porcentaje de los sobrevivientes, debido a afecciones producidas por la enfermedad de base, el tratamiento o intercurrencias. Muchas de estas anomalías pueden sobrevenir años o décadas luego del tratamiento. La terapéutica de estas enfermedades comprende diferentes esquemas incluyendo cirugía, quimioterapia y radioterapia. Estos intensos esquemas de tratamiento pueden tener como consecuencia la aparición de diversas secuelas; 40% de los pacientes tratados por enfermedades oncológicas en la infancia va a tener alguna secuela endocrina relacionada con la enfermedad de base, la cirugía, la radio y/o quimioterapia; dependiente de la edad al inicio de la enfermedad y/o tratamiento, el género y el tiempo transcurrido desde la finalización del tratamiento. Postradioterapia craneal el orden de alteración de los ejes es 1) eje somatotrófico, 2) eje gonadotrófico, 3) eje adrenocorticotrófico y 4) eje tiroideo. La radio y quimioterapia pueden producir daño gonadal primario siendo el epitelio germinal del varón el más susceptible. La recuperación a medida que se aleja de la finalización del tratamiento es infrecuente, pero posible. Es de suma importancia conocer las posibles alteraciones con el objeto de realizar un adecuado control de los pacientes, durante su infancia y adolescencia y en la vida adulta. Con este fin se recomienda: • Una observación semestral del crecimiento y desarrollo puberal, en todos los niños tratados por neoplasia maligna, hasta que alcancen su estatura adulta y completen su desarrollo sexual. Se deberá prestar especial atención al inicio precoz de los signos puberales y a la falta de aparición de los mismos dentro del rango de edad esperado. • Un control anual de la función tiroidea, que incluya los valores de TSH y hormonas tiroideas, examen clínico con palpación de la glándula y ecografía. • El nivel de cortisol matinal debe ser determinado anualmente por un período de hasta 15 años luego de la finalización del tratamiento oncológico.


Most children diagnosed with a malignancy may now be expected to become long term survivors. The overall survival rate for childhood cancers is greater than 70% for pediatric central nervous system tumors, 80% for acute lymphoblastic leukemia and exceeds 90% for those diagnosed with Hodgkin´s disease. Endocrine sequelae, ranging from 20 to 50%, have been documented in these children, related to the underlying condition, the nature and dosage of cytotoxic chemotherapy and the amount and schedule of irradiation. Long term effects affecting the endocrine system represent a frequent complication of treatment and many of these endocrine disturbances could develop several years after the completion of treatment schedules. Several factors as age at which treatment was initiated, the length of time since treatment and gender modified these long term late effects. There is a strong association between the total radiation doses and pituitary hormone deficiencies. The growth hormone axis is the most sensitive followed by the gonadotropic and thyrotropic axes. Radio and chemotherapy cause male and female gonadal dysfunction Patients at risk of developing endocrinologic sequelae must be identified and monitored closely to assess the magnitude of any late effects in order to prevent associated morbidity. The following are the recommendations of the Children´s Oncology Group for the surveillance of these group of patients: • Semi-annual screening of growth in all children. Pubertal onset and tempo should be assessed to detect precocious, early, late puberty or gonadal failure. • Annual screening including clinical examination and levels of T4 and TSH. • Serum cortisol levels should be obtained yearly until 15 years off therapy.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Endocrine System/drug effects , Endocrine System/physiopathology , Neoplasms/complications , Antineoplastic Agents/adverse effects , Hodgkin Disease/complications , Follow-Up Studies , Central Nervous System Neoplasms/complications , Precursor Cell Lymphoblastic Leukemia-Lymphoma/complications
14.
Arq. bras. endocrinol. metab ; 51(7): 1097-1103, out. 2007. tab
Article in English | LILACS | ID: lil-470073

ABSTRACT

Combined Pituitary Hormone Deficiency (CPHD) is a prevalent disease in Neuroendocrinology services. The genetic form of CPHD may originate from mutations in pituitary transcription factor (PTF) genes and the pituitary image in these cases may give a clue of what PTF is most probably mutated: defects in LHX4 are usually associated with ectopic posterior pituitary (EPP); defects in LHX3, PIT1, and PROP1, with normally placed posterior pituitary (NPPP); HESX1 mutations are associated with both. OBJECTIVE: To identify mutations in PTF genes in patients with idiopathic hypopituitarism followed in our service, based on the presence or absence of EPP on sellar MRI. METHODS: Forty patients with idiopathic hypopituitarism (36 families, 9 consanguineous), followed in the Neuroendocrinology Outpatient Clinic of UNIFESP, Brazil, were submitted to sequencing analyses of PTF genes as follows: LHX3, HESX1, PIT1, and PROP1 were sequenced in patients with NPPP (26/40) and HESX1 and LHX4 in patients with EPP (14/40). RESULTS: We identified only PROP1 mutations in 9 out of 26 patients with CPHD and NPPP (35 percent). Since eight of them came from 4 consanguineous families, the prevalence of PROP1 mutations was higher when only consanguineous families were considered (44 percent, 4/9). At the end of the study, we decided to sequence PROP1 in patients with EPP, just to confirm that they were not candidates for PROP1 mutations. No patients with EPP had PROP1 or other PTF mutations. CONCLUSIONS: Patients with idiopathic CPHD and NPPP, born from consanguineous parents, are the strong candidates for PROP1 mutations. Other developmental gene(s) may be involved in the genesis of idiopathic hypopituitarism associated with EPP.


Deficiência Combinada de Hormônios Hipofisários (DCHH) é uma doença prevalente em todos os serviços de Neuroendocrinologia. A DCHH de origem genética pode resultar de mutações nos genes de fatores de transcrição hipofisários (FTH), e a ressonância magnética (RM) de sela desses pacientes pode indicar qual FTH tem maior probabilidade de estar mutado: mutações no LHX4 estão geralmente associadas a neuro-hipófise ectópica (NHE); mutações no LHX3, PIT1 e PROP1, a neuro-hipófise tópica (NHT); mutações no HESX1 podem estar associadas a NHE e NHT. OBJETIVO: Identificar mutações nos FTH em pacientes acompanhados em nosso serviço, portadores de hipopituitarismo idiopático, selecionando os genes a serem estudados de acordo com a presença ou ausência de NHE à RM sela. MÉTODOS: Os genes dos FTH foram seqüenciados em 40 pacientes com hipopituitarismo idiopático (36 famílias, 9 consangüíneas), acompanhados na unidade de Neuroendocrinologia da UNIFESP, SP, Brasil: LHX3, HESX1, PIT1 e PROP1 foram seqüenciados nos pacientes com NHT (26/40) e HESX1 e LHX4, nos pacientes com NHE (14/40). RESULTADOS: Somente mutações PROP1 foram identificadas em 9 de 26 pacientes (35 por cento) com NHT, 8 deles provenientes de 4 famílias consangüíneas (4/9, 44 por cento). Uma vez que mutações no PROP1 foram tão freqüentes, decidimos, ao final do estudo, seqüenciá-lo também nos pacientes com NHE. Nenhum paciente com NHE apresentou mutações no PROP1 ou em outro FTH. CONCLUSÃO: Mutações no gene PROP1 foram encontradas em 22,5 por cento (9/40) de todos os pacientes, em 35 por cento (9/26) dos pacientes com NHT e em 44 por cento (4/9) se considerarmos somente as famílias consangüíneas. Portanto, pacientes com DCHH idiopática e NHT, provenientes de famílias de pais consangüíneos, são os melhores candidatos a mutações PROP1.


Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Homeodomain Proteins/genetics , Hypopituitarism/genetics , Transcription Factor Pit-1/genetics , Transcription Factors/genetics , DNA Mutational Analysis , Genetic Predisposition to Disease/genetics , Hypopituitarism/diagnosis , Magnetic Resonance Imaging , Mutation, Missense , Pituitary Hormones, Posterior/deficiency , Pituitary Hormones, Posterior/genetics , Sequence Analysis, DNA
15.
Journal of Korean Neurosurgical Society ; : 367-370, 2007.
Article in English | WPRIM | ID: wpr-200021

ABSTRACT

OBJECTIVES: Pituitary adenomas are common neurological lesions believed to account for 10% to 15% of all primary brain tumors. There can be diagnostic confusion due to discordance of the preoperative endocrine and the postoperative immunohistochemical diagnosis. In this study, the rate of discordance between preoperative and postoperative findings and their clinical implications were investigated. METHODS: From March 2005 to March 2006, 26 patients who underwent surgery for a pituitary adenoma were enrolled in this study. The preoperative pituitary hormone level and postoperative immunohistochemical results were compared and analyzed. RESULTS: The median age of the patients was 38 years (range 15-66 years). The male to female ratio was 8 to 18. The endocrine evaluation showed 16 hormonally-active and 10 hormonally-inactive adenomas. The immunohistochemical findings showed : 13 prolactin-positive, 1 GH-positive, 1 FSH-positive, 8 pleurihormone-positive and 3 stain-negative adenomas. The percentage of discordance observed between the preoperative endocrine and postoperative immunohistochemical diagnosis was 54%. Nine of 10 endocrine non-functioning adenomas showed : 3 PRL positive, 1 GH positive, 2 PRL+GH positive, 1 TSH+FSH positive, 1 FSH+ACTH+PRL positive and 1 FSH+LH+PRL positive adenomas by immunohistochemistry. Three endocrine PRL+GH secreting adenomas showed 2 PRL positive and 1 FSH+GH positive by immunohistochemistry. One endocrine PRL secreting and 1 GH secreting adenoma showed 1 PRL+TSH positive and 1 GH+PRL positive by immunohistochemistry, respectively. The diagnosis of the other 12 pituitary adenomas showed concordance. CONCLUSION: The results of this study showed 54% discordance rate between the preoperative endocrine and postoperative immunohistochemical diagnosis for pituitary adenomas.


Subject(s)
Female , Humans , Male , Adenoma , Brain Neoplasms , Diagnosis , Immunohistochemistry , Pituitary Neoplasms
16.
Journal of the Korean Ophthalmological Society ; : 1465-1471, 2006.
Article in Korean | WPRIM | ID: wpr-25892

ABSTRACT

PURPOSE: To estimate the baseline demographic and ocular characteristics of patients with optic nerve hypoplasia (ONH), and to analyze the different features and frequency of coexistent CNS abnormalities and pituitary hormone deficiency. METHODS: The authors reviewed the medical records of the patients who were seen between January 1988 and July 2005. Eyes with disc-to-macula / disc diameter ratio of 3.0 or more were eligible. The study comprised 70 patients (45 male, 25 female) and the average age was 6.4 years. RESULTS: Ocular manifestations included strabismus and nystagmus in 60 patients (85.7%) and 23 patients (32.9%), respectively. Eighty-four patients (87.5%) had visual acuity of 0.3 or less. Neuroradiologic examination of 27 patients revealed two with septo-optic dysplasia, two with pituitary hypoplasia, one with an absence of corpus callosum, one with diffuse encephalomalacia, one with a cerebral infarction in the right cerebral hemisphere, and one with a cerebellar injury. Of 12 patients who had undergone a clinical laboratory test, two had isolated growth hormone deficiency, one had a combined deficiency of growth hormone and gonadotropin and one had a combined deficiency of growth hormone and thyrotropin. CONCLUSIONS: Ocular features frequently associated with ONH are strabismus, nystagmus and poor vision. ONH is often associated with a wide variety of central nervous system abnormalities and pituitary hormone defect, so a systematic approach to patients with ONH is always recommended.


Subject(s)
Humans , Male , Agenesis of Corpus Callosum , Central Nervous System , Cerebral Infarction , Cerebrum , Dwarfism, Pituitary , Encephalomalacia , Gonadotropins , Growth Hormone , Medical Records , Optic Nerve , Septo-Optic Dysplasia , Strabismus , Thyrotropin , Visual Acuity
17.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 929-930, 2006.
Article in Chinese | WPRIM | ID: wpr-977460

ABSTRACT

@#In the acute phase of traumatic brain injury or cerebrovascular disease,disorders of hypothalamic-pituitary-cortical axis,hypothalamic-pituitary-thyroid axis and hypothalamic-pituitary-gonad axis may exist.The main cause is primary or secondary impairment of hypothalamus as well as pituitary after brain injury.Most of the variations of endocrine after acute brain injuries may be temporary and reversible,but some patients will accompany with hypopituitarism or neuroendocrine deficiency.It is important to set a guideline to decide who and when to test.Hormone replacement therapy should also be verified if it can improve the outcome of patients with brain injuries.

18.
Chinese Journal of Endocrinology and Metabolism ; (12)1986.
Article in Chinese | WPRIM | ID: wpr-674617

ABSTRACT

0.05), indicating that the functional reserve of PRL, TSH and ACTH cells were normal in IGHD patients. Except the ratio of peak and basal level, all the other five indices of the LH response to LHRH were significantly lower in IGHD patients than in normals of puberty. The functional reserve of LH cell was low in about 2/3 IGHD patients. These results might explain the delayed or no puberty in adult IGHD patients.

19.
J Biosci ; 1983 Dec; 5(4): 355-363
Article in English | IMSEAR | ID: sea-160264

ABSTRACT

The presence of sulphate in the carbohydrate of pituitary lutropin from different species has been investigated using a biosynthetic approach. Pituitaries from rats, rabbits, goats, and buffaloes were incubated in the presence of 35SO and the 35SO 4 – -labelled proteins in the tissue immunoprecipitated with a well characterized anti-sheep lutropin serum. The incorporation into immunoreactive lutropin was low in the case of rat, rabbit and goat pituitaries while, it was considerable in the case of buffalo pituitaries. Hence further characterization studies were carried out on 35SO -labelled proteins of buffaloes. The physico-chemical, immunological and biological properties of radio-labelled buffalo pituitary material were shown to be similar to those of standard lutropin. In in vitro conditions of incubations, most of the incorporation of 35SO was observed into tissue lutropin while under similar conditions of incubation, [14C]-amino acids were found to get incorporated mostly into medium lutropin. The physiologically specific releasing hormone, lutropin-releasing hormone was found to stimulate the release of 35SO -labelled lutropin from the rabbit pituitaries into the medium. These results give indirect evidence that sulphate could be present in pituitary lutropin.

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