Clinical Characteristics and Diagnostic Experience of Adult Thyroid Langerhans Cell Histiocytosis with Diabetes Insipidus / 罕见病研究

  Objective  To analyze the clinical characteristics of thyroid LCH to enhance understanding of the disease.  Methods  We retrospectively studied the clinical data from six thyroid LCH patients who hospitalized in Huashan Hospital Affiliated to Fudan University from January 2015 to January 2022.We analyzed the ultrasound and 18F FDG-PET/CT imaging characteristics of thyroid LCH.  Results  The six patients diagnosed (2 males and 4 females) were between 18 and 58 years old.All patients had diabetes insipidus.MRI revealed thickened pituitary stalk.Two cases had central hypothyroidism, while four cases euthyroidism.Three cases tested positive for thyroid antibodies.Ultrasound showed thyroid nodules of TI-RADS 3 in three cases, TI-RADS 4 in two cases, and 1 with nodular goiter.Ultrasound showed that all sic cases indicated low echogenicity, 5 of which clear boundaries, 4 of which uneven echo distribution, 5 of which irregular shape, and noen has calcification.18F FDG-PET/CT indicated high uptake nodules with SUVmax values all above 10.4 cases were diagnosed by surgical excision and the other 2 by coarse-needle aspiration biopsy.When diagnosed, two cases had liver and thymus involvement respectively.One case had lung and bone involvement respectively.After treatment, 4 cases showed that nodular goiter shrank, while the other two with liver involvement progressed fast and no assessment made.  Conclusions  Thyroid LCH presented low echogenicity, clear boundaries, irregular shape, without calcification, and high uptake in 18F FDG-PET/CT.A definite diagnosis of pituitary stalk thicking accompanied by thyroid nodules, especially those with hypoechoic and irregular nodules, can be achieved by coarse-needle aspiration biopsy and langerin-specific pathological staining.

Diagnóstico radiológico del síndrome de interrupción del tallo hipofisario. Neurohipófisis ectópica / Radiological Diagnosis of Pituitary Stalk Disruption Syndrome. Ectopic Neurohypophysis

Resumen: El síndrome de interrupción del tallo pituitario es una anomalía congénita que se caracteriza por la demostración neurorradiológica de un tallo pituitario ausente, interrumpido o hipoplásico, adenohipófisis aplásica/hipoplásica y neurohipófisis ectópica. Este síndrome se ha relacionado con formas severas de hipopituitarismo congénito, asociado a múltiples deficiencias de hormonas pituitarias. Los signos y los síntomas perinatales que presentan los pacientes incluyen hipoglucemia hasta en un 61%, ictericia en un 38%, micropene en un 77% y colestasis en un 19%, las convulsiones neonatales se dieron en el 75% de los niños. Durante la infancia suelen tener talla baja y disminución en la velocidad del crecimiento, así mismo pueden presentar retardo en la expresión de los caracteres sexuales secundarios (1). En nuestro caso clínico se trata de un paciente adolescente el cual tenía como manifestaciones clínicas principales, retardo en los caracteres sexuales secundarios, los hallazgos principales que se encontraron en la resonancia magnética nuclear, incluyeron ausencia del tallo hipofisario, neurohipófisis ectópica, localizada adyacente al túber cinereum y adenohipofisis hipoplásica.

Abstract: Pituitary stalk disruption syndrome is a congenital anomaly characterized by neuroradiologic demonstration of an absent, interrupted, or hypoplastic pituitary stalk, aplastic/ hypoplastic adenohypophysis, and ectopic neurohypophysis. This syndrome has been related to severe forms of congenital hypopituitarism, associated with multiple deficiencies of pitu- itary hormones. Perinatal signs and symptoms presented by patients include hypoglycemia in up to 61%, jaundice in 38%, micropenis in 77% and cholestasis in 19%, neonatal seizures occurred in 75% of children. During childhood, they tend to have short stature and a decrease in growth speed, as well as a delay in the expression of secondary sexual characteristics. In our clinical case, an adolescent patient was presented whose main clinical manifestations were delayed secondary sexual characteristics, the main findings were found in nuclear magnetic resonance, including absence of the pituitary stalk, ectopic neurohypophysis, located adjacent to the tuber cinereum and hypoplastic adenohypophys.

JNK/c-Jun signaling pathway mediates arginine vasopressin neuron regeneration by promoting cytoskeleton reconstruction in rats with electrical lesions of the pituitary stalk / 南方医科大学学报

OBJECTIVE@#To investigate the mechanism by which doublecortin promotes the recovery of cytoskeleton in arginine vasopressin (AVP) neurons in rats with electrical lesions of the pituitary stalk (PEL).@*METHODS@#Thirty-two SD rats were randomized into PEL group with electrical lesions of the pituitary stalk through the floor of the skull base (=25) and sham operation group (=7), and the daily water consumption (DWC), daily urine volume (DUV) and urine specific gravity (USG) of the rats were recorded. Four rats on day 1 and 7 rats on each of days 3, 7 and 14 after PEL as well as the sham-operated rats were sacrificed for detection of the expressions of β-Tubulin (Tuj1), doublecortin and caspase- 3 in the AVP neurons of the supraoptic nucleus using immunofluorescence assay and Western blotting.@*RESULTS@#After PEL, the rats exhibited a typical triphasic pattern of diabetes insipidus, with the postoperative days 1-2 as the phase one, days 3-5 as the phase two, and days 6-14 as the phase three. Immunofluorescent results indicated the repair of the AVP neurons evidenced by significantly increased doublecortin expressions in the AVP neurons following PEL; similarly, the expression of Tuj1 also increased progressively after PEL, reaching the peak level on day 7 after PEL. The apoptotic rates of the AVP neurons exhibited a reverse pattern of variation, peaking on postoperative day 3 followed by progressive reduction till day 14. Western blotting showed that the expressions of c-Jun and p-c-Jun were up-regulated significantly on day 3 ( < 0.05) and 7 ( < 0.01) after PEL, while an upregulated p-JNK expression was detected only on day 3 ( < 0.05), as was consistent with the time-courses of neuronal recovery and apoptosis after PEL.@*CONCLUSIONS@#JNK/c-Jun pathway is activated after PEL to induce apoptosis of AVP neurons in the acute phase and to promote the repair of neuronal cytoskeleton by up-regulation of doublecortin and Tuj1 expressions.

Recurrent Pituicytoma in a Pediatric Patient: A Case Report

Pituicytoma is a rare tumor that arises from the glial cells of the neurohypophysis. For a long time, it was believed that pituicytomas only appeared in adults. Currently, at least three cases of this entity occurring in children have been reported in the literature. The aim of the present report is to describe the case of a 5-year-old girl who presented to the emergency department with visual disturbances, and the diagnosis was a recurrent pituicytoma. Therefore, the clinical presentation, the radiological features of the tumor, and the corresponding surgical management are described. Additionally, a brief review of the management of this unusual entity was performed.

O pituicitoma é um tumor raro que surge das células gliais da neurohipófise. Durante muito tempo, acreditou-se que os pituicitomas só aparecessem em adultos. Atualmente, pelo menos três casos desta entidade ocorrendo em crianças foram relatados na literatura. O objetivo do presente artigo é descrever o caso de uma menina de 5 anos que chegou à emergência com distúrbios visuais, e o diagnóstico foi um pituicitoma recorrente. A apresentação clínica, as características radiológicas do tumor, e o correspondente manejo cirúrgico foram, portanto, descritos. Além disso, foi realizada uma breve revisão do tratamento desta entidade incomum.

Clinical and imaging characteristics and treatment follow-up of pituitary stalk interruption syndrome in children / 中华实用儿科临床杂志

Pituitary stalk interruption syndrome (PSIS) is associated with low viability and growth retardation of children and adolescents.Because of complex and variable clinical features,PSIS is often misdiagnosed.Now,the features of clinical manifestations and delineation of pituitary structure in magnetic resonance imaging are summarized,which can help the doctors to make more refined diagnosis,and to also make suggestions for hormone replacement therapy and focus of follow-up.

Clinical features of pituitary stalk interruption syndrome in neonates and infants / 中华实用儿科临床杂志

Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk,hypoplasia of the adenohypophysis,and ectopic neurohypophysis.The occurrence of PSIS is associated with perinatal abnormalities and congenital gene mutations.PSIS manifestations include a wide spectrum of clinical phenotypes and pituitary hormone deficiencies of variable degree and timing of onset.The phenotype in children and adolescents includes short stature and abnormal sexual development.However,the manifestations of PSIS in neonates and infants are not specific.The phenotype in the neonatal period includes hypoglycemia,hyponatremia,micropenis,cryptorchidism,malformations,jaundice,constipation and poor appetite.Great importance should be attached to the prognostic value of magnetic resonance imaging (MRI) in pituitary region,and the pituitary characteristics indicated by MRI are closely associated with the clinical phenotypes of PSIS.Once PSIS is diagnosed,hormone replacement therapy should be performed in early stage and subsequent long-term follow-up is demanded.

Research advances in etiology of pituitary stalk interruption syndrome / 中华实用儿科临床杂志

Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk,hypoplasia of the adenohypophysis,and ectopic neurohypophysis.PSIS manifestations include a wide spectrum of clinical phenotypes and pituitary hormone deficiencies of variable degree and timing of onset.To date,the underlying mechanisms involved in PSIS ontogenesis have remained unclear.Perinatal injury and abnormal pituitary development during the embryonic period have more recently been proposed.Thus far,10 genes mutations,chromosome micro deletions and micro duplications are proved to have been associated with PSIS.Now,the research advances of etiology of PSIS ave reviewed.

Síndrome de interrupción del tallo pituitario: Relaciones clínicas, bioquímicas y neurorradiológicas / Pituitary stalk interruption syndrome: Clinical, biochemical and neuroradiological relationships

El síndrome de interrupción del tallo pituitario (PSIS) se caracteriza por la demostración neurorradiológica de un tallo pituitario ausente, interrumpido o hipoplásico, adenohipófisis aplásica/hipoplásica o neurohipófisis ectópica. Este síndrome se ha relacionado con formas severas de hipopituitarismo congénito (HPC), asociado a múltiples deficiencias de hormonas pituitarias (MPHD). Evaluamos a pacientes con HPC y PSIS, analizando los signos y los síntomas neonatales al diagnóstico, relacionándolos con las deficiencias hormonales pituitarias y signos neurorradiológicos presentes. Estudiamos retrospectivamente a 80 pacientes asistidos en el Hospital de Niños de Córdoba, con diagnóstico de HPC, de los cuales 42 (52%) presentaron PSIS; 22 mujeres y 20 varones, EC: 5 días-9,5 años. El 62% presentó MPHD y el 38% insuficiencia somatotrófica aislada (IGHD). El análisis de las variables perinatales demostró antecedentes de parto natural en el 52% (11/21) de las MPHD vs. 13% (2/15) de las IGHD. Cuatro pacientes, 2 con MPHD y 2 con IGHD presentaban antecedentes obstétricos consistentes en presentación podálica y transversa respectivamente, todos ellos resueltos mediante operación cesárea. Los signos y los síntomas perinatales fueron hipo- glucemia: 61% en MPHD vs. 19% en IGHD, p: 0,0105; ictericia: 38% en MPHD vs. 25% en IGHD; micropene: 77% en MPHD y colestasis: 19% en MPHD. Convulsiones neonatales se presentaron en el 75% de los niños con MPHD e hipoglucemia. EC media de consulta: 2,1 años en MPHD (30% en el período neonatal, 70% antes de 2 años) y 3,6 años en IGHD (44% en menores de 2 años). Los pacientes con MPHD presentaban: tallo no visible 81% (n: 21/26) vs. tallo hipoplásico: 19% (n: 5/26), p: 0,0001; en IGHD 56% (n: 9/16) vs. 44% (n: 7/16), p: 0,5067, respectivamente. El 100% de los neonatos con HPC tenían tallo pituitario ausente. Concluimos que la demostración de PSIS en niños con HPC proporciona información valiosa como predictor de la severidad fenotípica, la presencia de MPHD y de la respuesta al tratamiento. La baja frecuencia de antecedentes obstétricos posicionales potencialmente distócicos, como parte de los mecanismos fisiopatogénicos responsables de PSIS, indicaría la necesidad de analizar la importancia de posibles factores genéticos y epigenéticos involucrados. El diagnóstico precoz de HPC debe sospecharse en presencia de signos y síntomas clínicos, tales como hipoglucemia, colestasis, micropene y defectos asociados en la línea media facial. La resonancia magnética cerebral debe formar parte de los estudios complementarios en pacientes con esta presunción diagnóstica, especialmente a edades tempranas. El reconocimiento tardío de esta entidad puede aumentar la morbilidad y la mortalidad con efectos potenciales deletéreos y permanentes.

Pituitary stalk interruption syndrome (PSIS) is characterised by the combination of an interrupted or thin pituitary stalk, absent or ectopic posterior pituitary, and anterior pituitary hypoplasia. It is manifested as isolated (IGHD) or combined pituitary hormone deficiencies (CPHD) of variable degrees and timing of onset, with a wide spectrum of clinical phenotypes. PSIS may be an isolated morphological abnormality or be part of a syndrome. A retrospective evaluation is presented of clinical signs and symptoms present at early life stages, as well as an analysis of their relationship with hormone laboratory tests and diagnostic imaging in children with congenital hypopituitarism (CHP), and PSIS. This study was performed in a single centre on a sample of 42 children out of a total of 80 CHP patients, with a chronological age range between 5 days and 9.5 years from a database analysed over a period of 26 years. The study included 26/42 (62%) with CPHD and 16/42 (38%) with IGHD. The analysis of perinatal variables showed a natural delivery in 52% (11/21) of CPHD vs 13% (2/15) of IGHD. Four patients, two with CPHD and two IGHD had breech and transverse presentation respectively. All of them were resolved by caesarean section. The perinatal histories showed hypoglycaemia (61% CPHD vs 19% IGHD, P=.0105), jaundice (38% CPHDvs25% IGHD), micropenis (75%CPHD), hypoglycaemic seizures (75% CPHD), and cholestasis (19% CPHD). The mean CA of consulting for CPHD patients was 2.1 years, 30% in neonatal period and 70% before 2 years. The mean chronical age (CA) was 3.6 years in IGHD patients, with 44% of them less than 2 years. MRI showed that 81% of CPHD patients had absence of pituitary stalk vs 19% with thin pituitary stalk (P=.0001); Patients with IGHD presented 56% absence of pituitary stalk vs 44% with thin pituitary stalk (P=.5067). All (100%) of the patients diagnosed in the neonatal stage had absent pituitary stalk. The characterisation of GH deficient patients by presence and type of hypothalamic-pituitary imaging abnormality provides valuable information as a predictor of phenotypic severity, treatment response, and the potential to develop additional hormonal deficiencies. We conclude that demonstrating PSIS in children with HPC provides valuable information as a predictor of phenotypic severity, presence of MPHD, and response to treatment. The low frequency of potentially dysfunctional positional obstetric history, as part of the pathophysiological mechanisms responsible for PSIS, would indicate the need to analyse the importance of possible genetic and epigenetic factors involved. Early diagnosis of HPC should be suspected in the presence of clinical signs and symptoms, such as hypoglycaemia, cholestasis, micropenis, and associated facial midline defects. MRI should be part of complementary studies in patients with this diagnostic suspicion, especially at an early age. Late recognition of this entity may increase morbidity and mortality with potential permanent deleterious effects.

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

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.

From the perspective of embryonic development on genetic pathogenic factors of pituitary stalk interruption syndrome / 中华内分泌代谢杂志

Pituitary stalk interruption syndrome (PSIS) is a newly discovered rare endocrinological syndrome characterized by structrual defect of pituitary and multiple deficiencies of a series of hypothalamic hormones, and thus leading to a cluster of clinical symptoms. This review will illustrate the genetic pathogenic factors influence on embryonic development, and briefly introduce the current studies of Whole-Exome Sequencing on PSIS.

Advance in genetic study of pituitary stalk interruption syndrome / 中华内分泌代谢杂志

Pituitary stalk interruption syndrome(PSIS) is a developmental defect,characterized by a thin or absent pituitary stalk. PSIS is a rare disease with combined pituitary hormone deficiencies, the pathogenesis of which is related to genetic mutations and environmental factors. It is also a genetically and clinically heterogeneous disease. Nine genes were found to be related to PSIS,including HESX1,LHX4,OTX2,SOX3,CDON,GPR161, PROKR2,TGIF and Wnt,Notch,SHH signalling pathways. In recent years,the intensive genetic studies show that four novel genes(CDON,GPR161,PROKR2,TGIF)and SHH pathway are related to PSIS,which provides a brand-new etiopathogenesis of PSIS.

The diagnostic value of enhanced MRI of pituitary for pituitary stalk interruption syndrome and a correlation analysis between enhanced MRI and pituitary target gland function damage / 中国医学装备

Objective:To observe and research the diagnostic value of enhanced MRI of pituitary for pituitary stalk interruption syndrome (PSIS) and explore the correlation between enhanced MRI and pituitary target gland function damage.Methods: 80 patients with PSIS were divided into part of pituitary stalk interruption group (38cases) and complete pituitary stalk interruption group (42cases). And 80 healthy people were divided into control group. The relative hormonal level of three groups were detected, and the correlation between appearance of MRI and insufficient hormonal type, amount and severity degree were analyzed.Results: In part of pituitary stalk interruption group, the heights of anterior pituitary gland were less than 3mm in 10 cases, and they were between 3-5mm in 23 cases and they were more than 5mm in 5 cases. And in them, there were 4 cases were posterior pituitary deficiency, 15 cases were heterotopia, 11 cases were volume diminished. In complete pituitary stalk interruption group, the heights of anterior pituitary gland were less than 3mm in 23 cases, and they were between 3-5mm in 16 cases and they were more than 5mm in 3 cases. And in them, there were 8 cases were posterior pituitary deficiency, 32 cases were heterotopia, 1 cases were volume diminished. All of the hormonal levels included growth hormone, insulin-like growth factor, free thyroxine, serum thyroid stimulating hormone (TSH), cortisol and adrenocorticotrophic hormone (ACTH) in complete pituitary stalk interruption group were significantly lower than that in part of pituitary stalk interruption group and control group (F=224.92,F=2571.80, F=369.50,F=67.73,F=2677.94,F=24.17,P<0.05), respectively. The differences of growth hormone, TSH, cortisol and ACTH, excepted insulin-like growth factor and free thyroxine, between part of pituitary stalk interruption group and control group were not significant. And pituitary-gonadal hormones level of part of pituitary stalk interruption group was significantly lower than that of control group (F=354.94,F=247.00, F=247.83,F=655.05,F=48.10,P<0.05). Besides, the differences of follicle-stimulating hormone, luteinizing hormone, estradiol, testosterone and prolactin levels between part of pituitary stalk interruption group and complete pituitary stalk interruption group were no significant.Conclusion: Enhanced MRI of pituitary can effectively diagnose pituitary stalk interruption syndrome and damage degree of pituitary target gland function.

Pituitary stalk interruption syndrome: Clinical features and progress in etiology / 中华内分泌代谢杂志

Pituitary stalk interruption syndrome(PSIS), as a rare congenital defect manifesting with varying degrees of pituitary hormone deficiency, its diagnosis is frequently delayed in clinical practice for the signs and symptoms during the neonatal period and infancy are often overlooked. The typical features of PSIS can be detected by magnetic resonance imaging. Several genes in Wnt, Notch, and Shh signaling pathways that related to hypothalamic-pituitary development, have been found to be associated with this rare syndrome. Nevertheless, the etiology in the majority of cases still remains unknown.In this review, we provide an overview of clinical features of PSIS and summarize our current understanding of its etiology. Furthermore, we propose future research directions for it. This manuscript is a Chinese translation version of review article entitled Pituitary stalk interruption syndrome: from clinical findings and pathogenesis in Journal of Neuroendocrinlogy[Journal of Neuroendocrinology,2017,29(1):DOI : 10.1111/jne.12451]. The authors have attained permissions from Journal of Neuroendocrinology and John Wiley and Sons Ltd.

Delayed diagnosis of pituitary stalk interruption syndrome with severe recurrent hyponatremia caused by adrenal insufficiency

Pituitary stalk interruption syndrome (PSIS) involves the occurrence of a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neurohypophysis. Diagnosis is confirmed using magnetic resonance imaging. Patients with PSIS have a variable degree of pituitary hormone deficiency and a wide spectrum of clinical manifestations. The clinical course of the disease in our patient is similar to that of a syndrome of inappropriate antidiuretic hormone secretion. This is thought to be caused by failure in the suppression of vasopressin secretion due to hypocortisolism. To the best of our knowledge, there is no case report of a patient with PSIS presenting with hyponatremia as the first symptom in Korean children. Herein, we report a patient with PSIS presenting severe recurrent hyponatremia as the first symptom, during adolescence and explain the pathophysiology of hyponatremia with secondary adrenal insufficiency.

Clinical analyses of 11 cases with pituitary stalk interruption syndrome / 中华全科医师杂志

Eleven male patients with pituitary stalk interruption syndrome (PSIS) at our hospital were retrospectively analyzed with respects to clinical features,endocrine status and imaging characteristics.The clinical manifestations included growth retardation and delayed puberty.All of them were deficient in growth hormone and pituitary gonadotropin secretion.Secondary hypothyroidism and hypocortisolism occurred in 8 patients and one had concurrent central diabetes insipidus.MRI with gadolinium contrast revealed no pituitary stalk or slim and anterior pituitary hypoplasia with ectopic posterior pituitary.The clinical characteristics of PSIS are growth retardation and delayed puberty,partial or complete adenohypophyseal dysfunction.The detection of hypothalamic pituitary region by MRI is an important diagnostic tool.

Sporadic Hemangioblastoma in the Pituitary Stalk: A Case Report and Review of the Literature

Hemangioblastomas in the pituitary stalk are especially rare. Most pituitary stalk hemangioblastomas reported in the literature were associated with von Hippel-Lindau (VHL) disease. Here, we report only the 3rd case of sporadic pituitary stalk hemangioblastoma diagnosed in a 60-year-old woman. Despite the danger of potential complications due to excessive vascularity or proximity to important neural structures, the tumor in our case was successfully removed while preserving pituitary function. In this case, complete surgical excision was shown to be an effective treatment option for symptomatic pituitary stalk hemangioblastoma, and we suggest careful evaluation of any highly enhancing mass with a signal void in the pituitary stalk preoperatively, even if no VHL disease is evident.

Pituitary Stalk Hemangioblastoma in a von Hippel-Lindau Patient : Clinical Course Follow-Up Over a 20-Year Period

Supratentorial hemangioblastomas (HBs) are rare, and pituitary stalk HBs are extremely uncommon; therefore, pituitary stalk evaluation is often overlooked. Herein, we report the development of pituitary stalk HB over a 20-year period and the importance of regular long-term follow up for patients with HBs.

The influencing factors on the height of patients with pituitary stalk interruption syndrome / 中华内分泌代谢杂志

Thirty cases of pituitary stalk interruption syndrome were divided into normal height (group 1) and short stature (group 2).There was no significant difference in growth hormone or insulin-like growth factor-Ⅰ levels between two groups(P＞0.05).Expected height and body mass index in group 1 were higher than those in group 2,while testosterone,cortisol,and FT4 were lower.Height were positively correlated with age,expected height,birth weight,and body mass index.The height of patients with pituitary stalk interruption syndrome depended on both genetic factors and the hormones from pituitary-target gland.

Hypothalamic Hypopituitarism Caused by Pituitary Stalk Dysgenesis / 대한내과학회지

Functional defects of the pituitary gland are a rare cause of pubertal delay. The pituitary stalk is an important structure that connects the hypothalamus and pituitary gland. A defect in fusion of the pituitary stalk and anterior pituitary gland will block the function of the anterior pituitary gland. A 28-year-old man was referred to our clinic with poorly developed secondary sexual characteristics. He had undeveloped facial, axillary, and pubic hair and was Tanner stage I. Laboratory tests gave random serum testosterone < 0.025 ng/mL, luteinizing hormone (LH) < 0.1 mIU/mL, follicle-stimulating hormone (FSH) 0.626 mIU/mL, thyroid-stimulating hormone (TSH) 6.85 microIU/mL, and fT4 6.96 pmol/L. Sella magnetic resonance imaging (MRI) showed no pituitary stalk enhancement. The response in the combined pituitary function test revealed multiple hormonal defects, while the TSH response to thyrotropin-releasing hormone (TRH) was exaggerated and delayed. Therefore, we concluded that pituitary stalk dysgenesis had led to hypothalamic-type panhypopituitarism.

Advance in diagnosis and therapy of pituitary stalk interruption syndrome / 中华内分泌代谢杂志

Pituitary stalk interruption syndrome(PSIS) is a rare disease characterized by different degrees of anterior pituitary hormone deficiency.The typical imaging finding is a thin or absent pituitary stalk,often associated with an ectopic posterior pituitary and a hypoplastic anterior pituitary.The cause is still unkown.Dynamic contrastenhanced MRI helps to confirm the diagnosis.Replacement of multiple anterior pituitary hormones is the key of the treatment.Doctors should have a thorough understanding of the disease and give patients efficacious treatment and a better prognosis would be obtained.