scholarly journals Pituitary Stalk Interruption Syndrome in a 40-Year-Old Female With Absent Uterus and Ovaries

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A601-A602
Author(s):  
Pamela Ann T Aribon ◽  
Leslie Daphne R Kawaji ◽  
Freyja Diana A Ramos ◽  
Monica Therese B Cating-Cabral
Keyword(s):  
Transvaginal Ultrasound ◽  
Hormone Replacement ◽  
Estrogen Therapy ◽  
Pituitary Stalk ◽  
Serum Testosterone Level ◽  
Primary Amenorrhea ◽  
Pituitary Hormone ◽  
Timely Initiation ◽  
Hormonal Replacement ◽  
Müllerian Agenesis

Abstract Background: A patient with multiple pituitary hormone deficiencies due to a rare congenital pituitary defect also presented with an absent uterus and ovaries. Coexisting Müllerian agenesis was suspected, however hormone replacement unraveled a different story. Case Presentation: A 40-year-old female presented with generalized body weakness and euvolemic hyponatremia. She also had cold intolerance, constipation, primary amenorrhea and dyspareunia. As a child, she was worked up for short stature but was lost to follow up. Physical examination showed Tanner stage 1 breast and pubic hair, and absence of axillary hair. She had no facial anomalies, visual abnormalities or anosmia. Hormone panel was consistent with panhypopituitarism: ACTH 5.69 pg/mL (<46 pg/mL), cortisol 1.9 ug/dL (4.30-22.40 μg/dL), TSH 3.375 uIU/mL (0.55-4.78 uIU/mL), FT4 0.51 ng/dL (0.55-4.78 uIU/mL), FT3 1.79 pg/mL (2.30-4.20 pg/mL), LH <0.07 mIU/mL (1.9-12.5 mIU/mL), FSH 0.95 mIU/mL (2.5-10.2 mIU/mL) and IGF-1 40.8 ng/dL (109-284 ng/mL). Bone age was delayed (16-year-old) but with most ossification centers fused. Pituitary MRI showed hypoplastic anterior pituitary, ectopic posterior pituitary and absent pituitary stalk suggestive of Pituitary Stalk Interruption Syndrome (PSIS). Low estradiol 19.35 pg/mL (19.5-144.2 pg/mL) in the setting of low LH and FSH was compatible with hypogonadotrophic hypogonadism. She had female-range serum testosterone level <0.007 ng/mL (0.1209-0.5946 ng/mL) and karyotype of 46XX. Transvaginal ultrasound revealed a blind vaginal pouch with absent uterus, fallopian tubes and ovaries; hence Müllerian agenesis was also considered. Hormonal replacement with prednisone, levothyroxine and conjugated equine estrogen was started. Secondary osteoporosis was treated with alendronate, calcium and vitamin D on top of estrogen therapy. Six months after initiation of estrogen, there was appearance of a small anteverted uterus and atrophic right ovary. Müllerian agenesis was ruled out and hypogonadotropic hypogonadism was proved to be the cause of the initial absence of the uterus and ovaries on imaging. Conclusion: Increased awareness of PSIS is important since early and accurate diagnosis is crucial for timely initiation of hormone replacement. This case also demonstrates the need for reassessment after hormonal replacement in patients with severe estrogen deficiency and apparent Müllerian agenesis.

scholarly journals Menarche in primary ovarian insufficiency after a month of hormone replacement therapy: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Biwen Cheng
Keyword(s):  
Replacement Therapy ◽  
Hormone Replacement ◽  
Estrogen Therapy ◽  
Primary Ovarian Insufficiency ◽  
Hormonal Replacement Therapy ◽  
Delayed Puberty ◽  
Ovarian Insufficiency ◽  
Breakthrough Bleeding ◽  
Hormonal Replacement ◽  
Ovarian Dysgenesis

Abstract Background Gynecologic anomalies, including uterine agenesis and ovarian dysgenesis, are some of the several differential diagnoses in adolescent females with primary amenorrhea and delayed puberty. Primary ovarian insufficiency is reported in the clinical practice of reproductive endocrinology can be determined by conducting sex hormone tests to evaluate the hypothalamic-pituitary-ovarian axis. However, confirmation of Mullerian agenesis by image modalities can be extremely challenging. Once the diagnosis is established, breakthrough bleeding usually occurs 2 to 3 years after hormonal replacement therapy. Case presentation We report a case of a seventeen year old Taiwanese female, 46 XX karyotype, with ovarian dysgenesis and an initial tentative diagnosis of uterine agenesis who experienced a breakthrough bleeding after a month of hormonal replacement therapy. Conclusions The breakthrough bleeding after a month of estrogen therapy in primary ovarian insufficiency is uncommon, and the diagnosis of the absent uterus can have an extensive psychological impact on patients and their families.

scholarly journals SAT-241 Pituitary Stalk Interruption Syndrome Presenting as Neonatal Hypotonia

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Nordie Anne Bilbao
Keyword(s):  
Pituitary Gland ◽  
Neonatal Period ◽  
Hormone Replacement ◽  
Brain Mri ◽  
Rare Condition ◽  
Pituitary Stalk ◽  
Pituitary Hormone ◽  
Thyroid Function Tests ◽  
Acth Stimulation ◽  
Central Hypothyroidism

Abstract Pituitary stalk interruption syndrome (PSIS) is a rare condition that include congenital anatomic abnormalities of the pituitary gland and hypopituitarism. There is a wide variety of clinical presentation, with the age at presentation encompassing from neonatal period to adulthood and including one or more pituitary hormone deficiencies. In recent literature there is increasing recognition of PSIS presenting in the neonatal period, mostly involving hypoglycemia. Our patient is a full-term male infant who presented in the newborn period with hypotonia and hypothermia. He also had hypoglycemia, which was initially thought to be associated to hyperinsulinism in the context of gestational diabetes. Micropenis was noted on physical exam. As part of the study for hypotonia, serial thyroid function tests were obtained revealing central hypothyroidism. A low dose ACTH stimulation test was performed which revealed adrenal insufficiency. The patient was started on cortisol and thyroid hormone replacement. Brain MRI showed an ectopic neurohypophysis located along the floor of the hypothalamus, a small anterior pituitary gland, and a partially absent infundibulum, findings consistent with pituitary stalk interruption syndrome. The patient received testosterone injections for micropenis and is being followed for development of other pituitary hormone deficiencies. PSIS is a rare congenital condition that is increasingly recognized in neonates manifesting with signs of hypopituitarism.

scholarly journals ANDROGEN INSENSITIVITY SYNDROME – A CASE REPORT

2021 ◽  
Vol 5 (8) ◽  
Author(s):  
Rohit Kiran Phadnis ◽  
Niharika Arram ◽  
Neha Gala ◽  
Faiz Hussain ◽  
Nikhita Yadav
Keyword(s):  
Case Report ◽  
Gender Identity ◽  
Proper Time ◽  
Hormone Replacement ◽  
Testicular Tissue ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Psychological Issues ◽  
Androgen Insensitivity ◽  
Müllerian Agenesis

Background:  AIS is one of the most commonly diagnosed XY DSD, with an estimated prevalence of 2:100.000 to 5:100.0001 and an incidence of 1:20.0002 to 1:99.0003. The name testicular feminization syndrome was coined by John McLean Morris of Yale University in 1953. The first description of this syndrome dates back to 1817, as quoted by Morris 4. It is the third most common cause of primary amenorrhea after gonadal dysgenesis and Mullerian agenesis 5. Case Report and Discussion: A 15-year-old phenotypic girl was evaluated for primary amenorrhea to find Complete Androgen Insensitivity Syndrome (CAIS) and underwent bilateral orchidectomy with plan for vaginoplasty at AIMSR, Hyderabad. Review of Literature:  The treatment of AIS is based on the reinforcement sexual identity, gender identity plan and hormone replacement therapy. The prognosis is good, if the testicular tissue is resected at proper time. Conclusion: CAIS should be considered as important differential diagnosis in delayed menarche while evaluation for primary amenorrhea and early gonadectomy can avoid gender identity disorder (GID) / psychological issues Keywords: CAIS, GID

scholarly journals Misdiagnosis of Mullerian agenesis in a patient with 46, XX gonadal dysgenesis: a missed opportunity for prevention of osteoporosis

2019 ◽  
Vol 2019 ◽  
Author(s):  
Yotsapon Thewjitcharoen ◽  
Veekij Veerasomboonsin ◽  
Soontaree Nakasatien ◽  
Sirinate Krittiyawong ◽  
Thep Himathongkam
Keyword(s):  
Gonadal Dysgenesis ◽  
Hormone Replacement ◽  
Disorders Of Sex Development ◽  
Primary Amenorrhea ◽  
List Type ◽  
Hormone Substitution ◽  
Mrkh Syndrome ◽  
Sex Development ◽  
Exogenous Estrogen ◽  
Müllerian Agenesis

Summary Primary amenorrhea could be caused by disorders of four parts: disorders of the outflow tract, disorders of the ovary, disorders of the anterior pituitary, and disorders of hypothalamus. Delay in diagnosis and hormone substitution therapy causes secondary osteoporosis. Herein, we report a case of a 23-year-old phenotypical female who presented with primary amenorrhea from 46, XX gonadal dysgenesis but had been misdiagnosed as Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis. The coexistence of gonadal dysgenesis and MRKH was suspected after laboratory and imaging investigations. However, the vanishing uterus reappeared after 18 months of hormone replacement therapy. Therefore, hormone profiles and karyotype should be thoroughly investigated to distinguish MRKH syndrome from other disorders of sex development (DSD). Double diagnosis of DSD is extremely rare and periodic evaluation should be reassessed. This case highlights the presence of estrogen deficiency state, the uterus may remain invisible until adequate exposure to exogenous estrogen. Learning points: An early diagnosis of disorders of sex development (DSD) is extremely important in order to promptly begin treatment, provide emotional support to the patient and reduce the risks of associated complications. Hormone profiles and karyotype should be investigated in all cases of the presumptive diagnosis of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis. The association between 46, XX gonadal dysgenesis and Mullerian agenesis has been occasionally reported as a co-incidental event; however, reassessment of the presence of uterus should be done again after administration of exogenous estrogen replacement for at least 6–12 months. A multidisciplinary approach is necessary for patients presenting with DSD to ensure appropriate treatments and follow-up across the lifespan of individuals with DSD.

Pituitary Stalk Interruption Syndrome: Presentation of a Rare Case

2018 ◽  
Vol 17 (05) ◽  
pp. 176-179
Author(s):  
Burcin Agridag Ucpinar ◽  
Ahmet Ucar ◽  
Evrim Ozmen
Keyword(s):  
Mental Retardation ◽  
Incidence Rate ◽  
Anterior Pituitary ◽  
Hormone Replacement ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Magnetic Resonance Imaging Scan ◽  
Pituitary Hormone ◽  
Posterior Pituitary ◽  
Mild Mental Retardation

AbstractPituitary stalk interruption syndrome is a congenital anomaly characterized by interrupted or thin pituitary stalk, hypoplastic or absent anterior pituitary, and an absent or ectopic posterior pituitary gland. The exact incidence rate of this syndrome is not known. However, the estimated incidence rate is 0.5/1,000,000 births. In this case report, we wanted to present a case of interrupted pituitary stalk syndrome, which presented with seizures and thyroid hormone deficiency. A 5-year-old female patient was admitted to our emergency department with vomiting, fever, and seizures with new onset. She had a twin who was ex-utero intrapartum in taken history. She was diagnosed with hypothyroidism and started on levothyroxine. Her height was in 25 to 50th percentile and her weight was in 10 to 25th percentile. She had mild mental retardation. On contrast-enhanced cranial magnetic resonance imaging scan, the pituitary stalk was absent, posterior pituitary was ectopic, and anterior pituitary was hypoplastic. The patient was diagnosed with interrupted pituitary stalk syndrome. After the symptoms were relieved, patient started on carbamazepine for epileptic seizures and hormone replacement therapy with levothyroxine and hydrocortisone. She was routinely followed up after the proper diagnosis. Leuprolide (gonadotropin-releasing hormone) and Norditropin (biosynthetic growth hormone) were added to medical therapy. Her height and weight were in 25th percentile after the long-term follow-up of approximately 10 years. On neurological examination, situation of mild mental retardation persisted. Pituitary stalk interruption syndrome is a very rare entity. However, radiologists should keep this syndrome in mind for patients who present with hypoglycemia, seizures, jaundice, cryptorchidism, and hypothyroidism in neonatal period and growth retardation with pituitary hormone deficiencies in childhood.

scholarly journals An Unusual Cause of Primary Amenorrhea

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A777-A778
Author(s):  
Nadiia Marenych ◽  
Sabah Patel ◽  
Janice L Gilden
Keyword(s):  
Luteal Phase ◽  
Transvaginal Ultrasound ◽  
Pubertal Development ◽  
Follicular Phase ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Total Testosterone ◽  
Normal Female ◽  
Skills Laboratory ◽  
Müllerian Agenesis

Abstract Background: Müllerian agenesis is the most common cause of primary amenorrhea in patients with typical thelarche and adrenarche. Most of the time, this diagnosis is made at the age of 10-13 years. Clinical Case: We present a case of a 18 year-old Vietnamese female who was referred to the endocrine clinic for primary amenorrhea. She stated that pubic hair developed at age 15 years. Patient is sexually active and uses condoms. She has 10 siblings (7 sisters, 3 brothers), 6 older sisters with menarche at ages 12-16 and a younger sister of 10 years old who has not yet had menarche. In addition, her older sister has 3 biological children and there was no reported infertility in her family. She stated that a pelvic ultrasound had been done at age of 17 years that showed no uterus. Oral contraceptives had been previously trialed and failed to induce withdrawal bleeding. HT 157.48 cm, WT 55.34 kg. The patient had a normal female phenotype with normal bilateral breast development, and no hirsutism. She was not concerned with this issue, which questioned her personality and coping skills. Laboratory testing-cortisol 13.0 ug/dL (5.3- 2.5), ACTH 29 pg/mL (0-47), estradiol 46.04 pg/mL), total testosterone 39 ng/dL (2-45), free testosterone 4.2 pg/mL (0.1-6.4), TSH 1.80 uIU/mL (0.358- .74), free T4 0.99 ng/dL(0.76- .46), FSH 4.4 mIU/mL (Follicular Phase:2.3 - 12.6, Midcycle Peak:5.2-17.5 mIU/mL, Luteal Phase:1.7-12.9 mIU/mL), Progesterone <0.5 ng/mL (follicular -less than 0.8 ng/ml, luteal=4.1- 3.7 ng/ml, mid-luteal= 4.5-25.2 ng/ml), LH 3.7 mIU/mL (follicular phase = 1.9-26.2 mIU/mL, Midcycle = 22.8 - 6.1 mIU/mL, Luteal phase = 0.6-16.6 mIU/mL). Transvaginal ultrasound-uterus not visualized; ovaries were unremarkable. DXA scan-normal Z scores. She refused to have a karyotype analysis. Differential diagnoses included müllerian agenesis, 5-alpha-reductase deficiency and complete androgen insensitivity syndrome. Unfortunately, our patient declined karyotype testing. Based on clinical presentation, which showed normal female genitalia, absence of uterus and normal laboratory finding, the most likely diagnosis was müllerian agenesis (Mayesr-Rokitansky-Kuster-Hauser syndrome). This syndrome has an incidence of 1/4,500-5,000 females and is caused is caused by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development, as in our patient. Psychosocial and genetic counseling, as well as offering options for pregnancy are important. In addition, certain personality traits, such as higher neuroticism, depression, and decreased coping styles may be observed. References: Obstetrics and Gynecology, Müllerian agenesis: Diagnosis, management, and treatment. Vol.131, NO.1, January 2018

scholarly journals SAT-067 Maternal Transmission of Pituitary Stalk Interruption Syndrome(PSIS)

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Snigdha Reddy Likki ◽  
Holley F Allen ◽  
Chelsea Gordner
Keyword(s):  
Pituitary Gland ◽  
Adrenal Insufficiency ◽  
Anterior Pituitary ◽  
Hormone Replacement ◽  
Growth Failure ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Z Score ◽  
Central Hypothyroidism

Abstract BACKGROUND: Pituitary stalk interruption syndrome (PSIS) is a rare entity characterized by thin or absent pituitary stalk, hypoplastic/aplastic anterior pituitary and ectopic posterior pituitary (EPP) on magnetic resonance imaging (MRI). PSIS can be associated with variable degrees of pituitary insufficiency 1. Most cases of combined pituitary hormone deficiency are sporadic, however in familial cases, there can be AD or AR inheritance with more than 30 genes identified in association with combined pituitary hormone deficiency (CPHD). We describe how diagnosis of 2 children with PSIS led to the discovery of the condition in their mother. Clinical Case: Child 1 presented at age 3yrs with growth failure in 2003 with ht z score -4.24 SD. Subsequent work up revealed low IGF-1 (< 25 ng /mL) and MRI showed EPP, small anterior pituitary gland and absent pituitary stalk. No GH stim test was performed. He was started on GH supplementation and later was diagnosed with central hypothyroidism, central adrenal insufficiency and hypogonadotropic hypogonadism and is doing well on multiple hormone replacement at age 19 yrs. Child 2, a half-brother to child 1 (same mother), presented at age 1yr with growth failure in 2017 with ht z score -2.06. GH stimulation test with glucagon was abnormal and resulted in a very low GH response (peak GH 0.52 ng/mL). MRI showed EPP with small anterior pituitary gland and interruption of the stalk. Later he was found to have central hypothyroidism and mild central adrenal insufficiency. He is receiving standard hormone replacement at 3 yrs of age. Mother of above 2 patients presented 6 mos postpartum in 2017 after her 7th and last pregnancy with fatigue and amenorrhea. Laboratory evaluation revealed central hypothyroidism (FT4 0.76 ng/dL) and she was prescribed levothyroxine followed by resumption of her menses. She was unable to breastfeed her children due to lack of supply. There were no concerns for DI, amenorrhea or infertility. She was referred to Endocrinology in 2019 for persistent fatigue with a question of GH deficiency. IGF-1 level was normal 114 ng/mL(z score -0.39) and GH stimulation test (clonidine + glucagon) was abnormal with peak GH 1.85 ng/ml. MRI showed EPP with hypoplastic pituitary stalk. Genetic testing was done for CPHD Sequencing Panel at Prevention Genetics which includes GL12, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1F1, PROP1, SOX2, SOX3 genes and results were negative. She has 4 other children (21, 12, 11, 10yrs) who are currently being investigated for hormone deficiencies. One child died at 3 months of age due to SIDS. Conclusion: We present 3 family members with PSIS. This family highlights the variable clinical phenotype of PSIS and importance of careful family history when evaluating children with congenital pituitary abnormalities and supports the need for more extensive gene panels for evaluation of CPHD. Reference:. Acta Endocrinologica, 2017. 13(1):96–105

scholarly journals A case of pituitary stalk interruption syndrome diagnosed in a 2-year-old child masquerading as syndrome of inappropriate antidiuretic hormone secretion

2021 ◽  
Vol 7 (6) ◽  
pp. 312
Author(s):  
Ali Kumble ◽  
Abhishek K. Phadke ◽  
Sapheliya Nazar
Keyword(s):  
Anterior Pituitary ◽  
Wide Spectrum ◽  
Hormone Replacement ◽  
Hormone Secretion ◽  
Clinical Manifestations ◽  
Pituitary Stalk ◽  
Serum Cortisol Level ◽  
Delayed Puberty ◽  
Pituitary Hormone ◽  
Inappropriate Antidiuretic Hormone Secretion

<p class="abstract">Pituitary stalk interruption syndrome (PSIS) is included under the spectrum of midline abnormalities and is considered as a part of the holoprosencephaly (HPE) wide spectrum. Genetic basis has been identified in few familial cases. PSIS have anterior pituitary hormone deficiencies and a wide spectrum of clinical presentation. The typical clinical manifestations of PSIS are growth retardation, hypoglycemia and delayed puberty. We report a case of PSIS with hyponatremic seizures as initial presentation. Two-year-old girl with growth and development appropriate for age, presented with acute respiratory infection and generalized tonic clonic seizures.  There was history of similar illness two weeks prior and was treated for hyponatremia. Child had euvolemic hyponatremia and symptomatic hypoglycemia.  Serum cortisol level was observed to be low and thyroid function test was abnormal. MRI brain showed hypoplastic anterior pituitary and ectopic posterior pituitary (hallmark of PSIS) and absent septum pellucidum. Child was treated with   hormone replacement therapy with hydrocortisone and thyroxine. Child improved and is on follow up. Clinical suspicion, early diagnosis and treatment prevent worsening of endocrine impairment, permanent short stature and associated morbidities with PSIS.</p>

scholarly journals Complete Androgen Insensitivity Syndrome: From Bench to Bed

2021 ◽  
Vol 22 (3) ◽  
pp. 1264
Author(s):  
Nina Tyutyusheva ◽  
Ilaria Mancini ◽  
Giampiero Igli Baroncelli ◽  
Sofia D’Elios ◽  
Diego Peroni ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Hormone Replacement ◽  
Basic Research ◽  
Well Being ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Primary Amenorrhea ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.

scholarly journals Pituitary Morphology and Function in 43 Children with Central Diabetes Insipidus

2016 ◽  
Vol 2016 ◽  
pp. 1-7 ◽  
Author(s):  
Wendong Liu ◽  
Limin Wang ◽  
Minghua Liu ◽  
Guimei Li
Keyword(s):  
Diabetes Insipidus ◽  
Central Diabetes Insipidus ◽  
Pituitary Function ◽  
Pituitary Stalk ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Initial Manifestation ◽  
Stalk Diameter ◽  
And Function

Objective. In pediatric central diabetes insipidus (CDI), etiology diagnosis and pituitary function monitoring are usually delayed. This study aimed to illustrate the importance of regular follow-up and pituitary function monitoring in pediatric CDI.Methods. The clinical, hormonal, and neuroradiological characteristics of children with CDI at diagnosis and during 1.5–2-year follow-up were collected and analyzed.Results. The study included 43 CDI patients. The mean interval between initial manifestation and diagnosis was 22.29 ± 3.67 months (range: 2–108 months). The most common complaint was polyuria/polydipsia. Causes included Langerhans cell histiocytosis, germinoma, and craniopharyngioma in 2, 5, and 4 patients; the remaining were idiopathic. No significant changes were found during the 1.5–2 years after CDI diagnosis. Twenty-three of the 43 cases (53.5%) had ≥1 anterior pituitary hormone deficiency. Isolated growth hormone deficiency was the most frequent abnormality (37.5%) and was not associated with pituitary stalk diameter. Multiple pituitary hormone deficiencies were found in 8 cases with pituitary stalk diameter > 4.5 mm.Conclusion. Diagnosis of CDI is usually delayed. CDI with a pituitary stalk diameter > 4.5 mm carries a higher risk of multiple pituitary hormone deficiencies. Long-term MRI and pituitary function follow-ups are necessary for children with idiopathic CDI.

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