Endocrinological Abnormalities Research Articles

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Suprasellar arachnoid cyst with precocious puberty

A 9-year-old boy with precocious puberty was presented with severe headache and vomiting, despite having a functioning ventriculoperitoneal shunt, from the age of one year for hydrocephalus. Magnetic resonance imaging revealed a tense suprasellar arachnoid cyst indenting the third ventricle. Decompression of cyst improved his headache and the features of precocious puberty at follow-up. His hormonal levels were not abnormal on gross neuroendocrine evaluation. It was concluded that suprasellar arachnoid cyst may manifest with features similar to raised intracranial pressure despite having a functioning shunt for associated hydrocephalus. Precocious puberty in such children may manifest without gross endocrinological abnormalities.

Endocrine and pubertal disturbances in optic nerve hypoplasia, from infancy to adolescence.

BackgroundEndocrinologic abnormalities are a common co-morbidity in patients with optic nerve hypoplasia (ONH), however the impact on puberty is unknown. The purpose of this study was to examine rates of endocrine dysfunction and pubertal disturbances in a pediatric population of ONH.MethodsA retrospective chart review was conducted on a cohort of children with ONH between January 2005 and March 2013. Endocrine dysfunction was determined based on laboratory evidence of hormone deficiency or hormone replacement. Pubertal disturbances were characterized based on presence of micropenis, tanner staging, menarche and hormone replacement. Pituitary abnormalities were classified using MRI findings. Descriptive statistics were used, and comparisons between groups were performed using the chi-square test.ResultsDuring the study period, 101 patients underwent an endocrine evaluation (median age: 2.3 years [0.76 – 6.5]). Hypopituitarism was present in 73% of patients with growth hormone deficiency (56%) and hypothyroidism (54%) being the most common. Pubertal disturbances (n = 19) were common; micropenis in 31% (13/42) of males and 2% with precocious puberty. Half of adolescents (n = 4/8) were diagnosed with gonadotropin deficiency. Patients with MRI pituitary abnormalities were more likely to have endocrine dysfunction than those without (p = 0.004). The sensitivity and specificity of MRI pituitary abnormalities for hypopituitarism was 54% and 92%, respectively.ConclusionsA significant proportion of children with ONH have endocrine dysfunction. The high frequency of pubertal disturbances in this study emphasizes the need for long-term monitoring of developing endocrinopathy. While pituitary gland abnormalities are a good predictor of endocrine dysfunction, a normal pituitary gland does not rule out endocrinopathy.

Clinical features of autoimmune autonomic ganglionopathy and the detection of subunit-specific autoantibodies to the ganglionic acetylcholine receptor in Japanese patients.

Autoimmune autonomic ganglionopathy (AAG) is a rare acquired channelopathy that is characterized by pandysautonomia, in which autoantibodies to ganglionic nicotinic acetylcholine receptors (gAChR) may play a central role. Radioimmunoprecipitation (RIP) assays have been used for the sensitive detection of autoantibodies to gAChR in the serum of patients with AAG. Here, we developed luciferase immunoprecipitation systems (LIPS) to diagnose AAG based on IgGs to both the α3 and β4 gAChR subunits in patient serum. We reviewed the serological and clinical data of 50 Japanese patients who were diagnosed with AAG. With the LIPS testing, we detected anti-α3 and -β4 gAChR antibodies in 48% (24/50) of the patients. A gradual mode of onset was more common in the seropositive group than in the seronegative group. Patients with AAG frequently have orthostatic hypotension and upper and lower gastrointestinal tract symptoms, with or without anti-gAChR. The occurrence of autonomic symptoms was not significantly different between the seropositive and seronegative group, with the exception of achalasia in three patients from the seropositive group. In addition, we found a significant overrepresentation of autoimmune diseases in the seropositive group and endocrinological abnormalities as an occasional complication of AAG. Our results demonstrated that the LIPS assay was a useful novel tool for detecting autoantibodies against gAChR in patients with AAG.

Minimally invasive surgical options for congenital and acquired uterine factors associated with recurrent pregnancy loss.

Recurrent pregnancy loss (RPL) is defined as two or more failed clinical pregnancies before 20 weeks' gestation and may be caused by genetic, endocrinologic, anatomic and immunologic abnormalities. Anatomic uterine anomalies include congenital malformations (bicornuate, didelphic, septate and unicornuate uteri) and acquired defects (fibroids, adenomas, adhesions and polyps). Women with septate and bicornuate uteri, intrauterine adhesions, and some adenomas and fibroids are at increased risk of RPL. Data support surgical treatment of all of these lesions except bicornuate uteri. The role of polyps in RPL is unclear. Minimally invasive options for surgical correction of intrauterine lesions include hysteroscopy, laparoscopy with and without robotic assistance and minilaparotomy.

Obez Çocuk ve Ergenlerde Obeziteye Eşlik Eden Endokrin ve Metabolik Bozukluklar ve İlişkili Faktörler

Obez Çocuk ve Ergenlerde Obeziteye Eşlik Eden Endokrin ve Metabolik Bozukluklar ve İlişkili Faktörler

Growth failure and nutrition considerations in chronic childhood wasting diseases.

Growth failure is a common problem in many children with chronic diseases. This article is an overview of the most common causes of growth failure/growth retardation that affect children with a number of chronic diseases. We also briefly review the nutrition considerations and treatment goals. Growth failure is multifactorial in children with chronic conditions, including patients with cystic fibrosis, chronic kidney disease, chronic liver disease, congenital heart disease, human immunodeficiency virus, inflammatory bowel disease, short bowel syndrome, and muscular dystrophies. Important contributory factors to growth failure include increased energy needs, increased energy loss, malabsorption, decreased energy intake, anorexia, pain, vomiting, intestinal obstruction, and inflammatory cytokines. Various metabolic and pathologic abnormalities that are characteristic of chronic diseases further lead to significant malnutrition and growth failure. In addition to treating disease-specific abnormalities, treatment should address the energy and protein deficits, including vitamin and mineral supplements to correct deficiencies, correct metabolic and endocrinologic abnormalities, and include long-term monitoring of weight and growth. Individualized, age-appropriate nutrition intervention will minimize the malnutrition and growth failure seen in children with chronic diseases.

G.P.235: Growth and endocrinological evaluation in spinal muscular atrophies – A single centre study of 43 pediatric patients

Spinal muscular atrophies (SMA) are hereditary monogenetic disorders characterized by a ubiquitary deficiency of the survival motor neuron (SMN) protein in every cell, leading to a multisystemic disorder which mostly affects alpha-motoneurons for unexplained reasons. Research has focused on the degeneration of alpha-motoneurons in order to find new treatment options; however, in SMA animal models disturbances of glucose and bone metabolisms are also described. In addition, clinical evaluation of our patients often shows hirsutism and early occurrence of pubic hair which was not observed in other neuromuscular disorders. Actually there are no data available concerning growth and pubertal development. In a period of 18 months, 43 patients (21 female/22 male), 0;6–21;8 year-old with SMA type I – III (8 SMA I; 22 SMA II; 13 SMA III) have visited our pediatric neuromuscular centre for medical follow-up due to respiratory or neuromuscular problems. In knowledge about the importance of the SMN protein for the whole organism, we designed a study to measure auxologic and endocrinological parameters to determine the hypothalamus–pituitary gland–gonad axis and the parameters of the somatotrope axis in patients with SMA type I–III. Key aspects are the evaluation of aberrations in auxology and endocrinological abnormalities, especially with regard to weight gain and puberty development to explain hirsutism and early occurrence of pubic hair. Priliminary data shows 3 out of 8 patients aged 4–7.5 with premature adrenache and 8 out of 21 with hirustism. The detailed statistic analysis of laboratory data is in progress. Endocrinological aberrations in childhood should be recognized early to prevent metabolic problems in adult SMA patients who are getting increasingly older due to improvements in treatment of respiratory and orthopedic problems, especially in SMA type II.

Recurrent miscarriage is a useful and valid clinical concept.

Although epidemiological, clinical and biochemical risk factors are known for recurrent miscarriage (RM), the etiology is mainly unknown. Two main hypotheses dominate: that RM is mainly caused by aneuploid conceptions and other conception errors and that the recurrence rate is explained by the combination of chance and increased risk, or that maternal endocrinological, thrombophilic or immunological abnormalities play a main role in causing loss of euploid conceptions. Believers of the former hypothesis advocate that management of RM should be conservative and that the spontaneous prognosis is very favorable. Believers of the latter hypothesis think that treatments aimed at the woman may improve pregnancy outcome, but that testing of such treatments in randomized controlled trials is needed. In this article in favor of RM being a specific and useful clinical concept, arguments are advanced that a significant subset of RM patients exhibit a poor spontaneous prognosis and should be offered relevant investigations, close surveillance during pregnancy, and treatment, preferably as part of randomized controlled trials.

The debate on the link between subclinical hypothyroidism and childhood migraine: is initial endocrinological evaluation necessary for children with migraine?

Subclinical hypothyroidism (SH) is characterized by mildly elevated thyroid stimulating hormone (TSH) levels with normal serum-free thyroxine (fT4). While the prevalence of SH is 2 % in pediatric population, it has been reported much higher in children with migraine headache. In this study, the presence of subclinical hypothyroidism and associated endocrinological abnormalities in children with migraine naïve to treatment was investigated. Children with migraine who were diagnosed in Pediatric Neurology Clinic based on the second edition of the International Classification of Headache Disorders and who did not receive any medication were recruited in this cross-sectional study. All patients were examined by the same pediatric endocrinologist and anthropometric measurements, systemic blood pressure, pubertal stages were recorded. Fasting serum levels of thyroid function tests, lipids, glucose and insulin were obtained. Ninety-eight children (55 female) with a mean age of 11.45 ± 3.1 years were evaluated. Of those, 39 were prepubertal and 59 were pubertal. Subclinical hypothyroidism (TSH ≥ 5.0 mIU/L with normal fT4) was detected in five patients (5.1 %); none had positive thyroid antibodies. Other conditions were obesity (n = 6), hirsutism (n = 4), short stature (n = 3), polycystic ovaries (PCO, n = 3), precocious puberty (n = 2) and gynecomastia (n = 1). Of five patients with SH, only one had obesity. Our results revealed that the prevalence of SH in children with migraine is not as high as previously reported. Since no significant endocrinologic disturbance was found in those children, we suggest that the initial endocrinological evaluation or screening for SH is unnecessary.

Images in Clinical Medicine: McCune-Albright Syndrome

Twelve years ago, the patient on the left (Figure 1), one of the 29-year-old single-placenta monozygotic twin sisters, underwent computed tomography after a relatively mild head trauma. As an incidental finding, the computed tomography scan (Figure 2) revealed that the skull structure was consistent with fibrous dysplasia, a characteristic finding for McCune-Albright syndrome. The pituitary gland was slightly enlarged. The second twin had no features of McCune-Albright syndrome. McCune-Albright syndrome is a sporadic disorder, caused by postzygotic activating mutations of the GNAS1 gene and characterized by polyostotic fibrous dysplasia, pigmented patches of skin, and endocrinological abnormalities (1). The extent and the nature of the abnormalities are highly variable, depending on the specific tissues involved in mosaicism. The affected twin had regular menses beginning at age 13. Her zygoma was very prominent on the left side, a manifestation of fibrous dysplasia, and the facial structure was typical of acromegaly (broad nose, elongated jaw, large mandible, and sharp facial features). There was an oval-shaped hyperpigmented lesion on the lower chest. Laboratory tests revealed high levels of serum prolactin, IGF-1, and GH (without oral glucose challenge test stimulation), which led to a diagnosis of acromegaly. The levels of TSH and T4 were normal. Molecular analysis of the GNAS1 gene from both twins did not reveal the cause of the discordance. Treatment of acromegaly was initiated with a somatostatin analog and a dopamine agonist, and fibrous dysplasia was managed with bisphosphonates. Under this treatment, GH and IGF-1 stabilized at slightly increased levels. Over the years, the phenotypic features of acromegaly became more prominent.

IL-6 gene promoter polymorphisms: genetic susceptibility to recurrent pregnancy loss.

Recurrent pregnancy loss (RPL) is defined as three or more pregnancy losses before 20 weeks. RPL is a multifactorial condition with several etiologic factors including genetic abnormalities of the parents, anatomical, endocrinological, hematologic and immunologic abnormalities, infections, nutritional and environmental factors. The causes of pregnancy loss in about half of the women with RPL even after extensive investigations remain unknown. We analyzed IL-6 -174 G/C, -572 G/C, -597 G/A, -1363 G/T, -2954 G/C promoter region polymorphisms in 113 RPL patients and 113 healthy subjects by using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay. The -174G/C genotypic and -174C allelic frequency and the -2954G/C genotypic and -2954C allelic frequency of IL-6 was higher in RPL patients than healthy controls and a significant association was found between RPL and -174G/C, -2954G/C polymorphisms (p < 0.0001, OR: 0.28, 95% CI: 0.15-0.51, p < 0.034, OR: 0.16, 95% CI: 0.01-1.12 respectively). We found remarkably similar frequencies in RPL patients compared to controls for IL-6 -572G/C,-597G/A and -1363G/T genotypes/alleles and no association was observed between RPL and these polymorphisms. Our study supported that IL-6 -174G/C and -2954G/C polymorphisms were associated with an increased risk of RPL in Turkish patients (Tab. 3, Ref. 24).

Endocrine abnormalities of patients with cleft lip and/or cleft palate during the neonatal period

There are close interactions among the developing oral cavity, pituitary gland, and central nervous system (CNS) in early embryonic life. In this study we aimed to screen endocrine abnormalities in patients with orofacial clefts in the neonatal period. Thirty-one patients with isolated orofacial median clefts wereincluded in the study. Pituitary, thyroid, and adrenal hormones were measured at the first week and remeasured in the third or fourth weeks. Imaging studies were done for detection of CNS anomalies in all patients. Endocrine abnormality was detected in 22 (70.9%) patients. The number of patients with single and multiple endocrine abnormalities were 13 (41.9%) and 9 (29%), respectively. Thyroid hormone-related disorders were detected in 10 (32.3%) patients. Growth hormone deficiency was detected in 4 (12.9%) patients. Adrenocorticotrophic hormone and/or glucocorticoid deficiency was detected in 5 (16.1%) patients. Neonatal hypoglycemia due to endocrinological abnormalities was detected in 6 (19.4%) patients. Defected mini-puberty was seen in 2 (15.4%) patients. There was no relationship between the types of orofacial cleft and endocrine abnormalities. Endocrinological evaluation of the patients with orofacial clefts in the neonatal period is a worthwhile endeavor to detect hormone deficiencies regardless of the type of the cleft.

Female pattern hair loss.

Context:Female pattern hair loss (FPHL) also known as female androgenetic alopecia is a common condition afflicting millions of women that can be cosmetically disrupting. Prompt diagnosis and treatment are essential for obtaining optimal outcome.This review addresses the clinical presentation of female pattern hair loss, its differential diagnosis and treatment modalities.Evidence Acquisition:A) Diffuse thinning of the crown region with preservation of the frontal hairline (Ludwig’s type)B) The “Christmas tree pattern” where the thinning is wider in the frontal scalp giving the alopecic area a triangular shaped figure resembling a christmas tree.C) Thinning associated with bitemporal recession (Hamilton type).Generally, FPHL is not associated with elevated androgens.Less commonly females with FPHL may have other skin or general signs of hyperandrogenism such as hirsutism, acne, irregular menses, infertility, galactorrhea and insulin resistance. The most common endocrinological abnormality associated with FPHL is polycystic ovarian syndrome (PCOS).Results:The most important diseases to consider in the differential diagnosis of FPHL include Chronic Telogen Effluvium (CTE), Permanent Alopecia after Chemotherapy (PAC), Alopecia Areata Incognito (AAI) and Frontal Fibrosing Alopecia (FFA). This review describes criteria for distinguishing these conditions from FPHL.Conclusions:The only approved treatment for FPHL, which is 2% topical Minoxidil, should be applied at the dosage of 1ml twice day for a minimum period of 12 months. This review will discuss off-label alternative modalities of treatment including 5-alfa reductase inhibitors, antiandrogens, estrogens, prostaglandin analogs, lasers, light treatments and hair transplantation.

English

Skin tags are small papillomas found in middle aged and elderly people. People with close family members who have skin tags are more likely to develop it. Initially these skin tags can be very small, flattened like a pinhead bump. Later they can grow to a diameter from 2mm to 1cm; some may even reach 5 cm size. Human papilloma virus (HPV) is seen in 80% of the evaluated skin tag. Definition and pathophysiology: Skin tags (acrochordons), the synonyms are fibroepithelial polyp, cutaneous papillae, cutaneous tag, fibroma molluscum, fibroma pendulum, papilloma coli, soft fibroma, templeton skin tags are small papillomas found commonly on the sides of the neck, axilla, upper trunk and eye lids of middle aged and elderly people. Obesity, pregnancy, menopause and endocrine disorders such as acromegaly predispose to this benign epithelial hyperplastic lesion. Although controversial, it has been suggested that multiple skin tags may be a marker for diabetes mellitus or impaired carbohydrate metabolism and may indicate a significantly increased risk of chronic polyps if they occur rapidly over a short period of time. One study using polymerase chain reaction (PCR) found low but detectable levels of human papilloma virus (HPV) in 80 % of the evaluated skin tags, with subtypes 6 and 11 being present 98% of the time. Skin tags are invariably benign, non-cancerous tumors of skin. Very large skin tags may burst under pressure. Skin tags are cosmetically bothersome but asymptomatic. Occasionally, a lesion will twist on its stalk and become painful, erythematous and necrotic. The lesions are single or multiple, 1 to 3 mm in diameter soft, flush coloured or hyperpigmented, oval or round papillomas. They are usually pedunculated. Treatment of obesity or underlying endocrinologic abnormality will decrease the likelihood of new lesion formation. Lesions may be confused with seborrheic keratosis, dermal nevi, neurofibromas, or warts. If multiple skin tags have occurred over a short period of time it is due to human papilloma virus serotype type 11 and 16. Skin tags are composed of a core fibres and ducts, nerve cells, fat cells, and coverings of epidermis. Skin tags are rarely associated with Birt-Hogg-Dube’s syndrome, polycystic ovary syndrome. .A skin tag is a polypoid outgrowth of both epidermis and dermal fibrovascular tissue. The more commonly occurs in the skin creases or folds. 20% of lesions mainly caused by skin rubbing against some ornaments and clothings.

Prenatal Diagnosis and Management of a Huge Infratentorial/Supratentorial Multiloculated Arachnoid Cystic Malformation in an Infant

A 23-year-old woman had a normal fetal ultrasound at 16 weeks’ gestation. A second ultrasound at 25 weeks revealed a cystic brain malformation in the fetus. A fetal magnetic resonance image (MRI) at 28 weeks showed the presence of a huge infratentorial/supratentorial multiloculated arachnoid cystic malformation and hydrocephalus (Fig 1A) [1]. Although the prognosis was highly uncertain, the possibility of blindness, endocrine abnormalities, and severe developmental delay was discussed with the family. At 38 weeks, an infant boy was delivered via elective cesarian section with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. Other than macrocephaly with full fontanelles, the physical examination was normal and without evidence of diabetes insipidus. A postdelivery MRI found the cystic malformation to have enlarged when compared with the fetal study (Fig 1B). A craniotomy was performed to fenestrate this multiloculated cystic malformation [2]. Histology of the submitted tissue was arachnoid. No problems were encountered postoperatively, and the infant was discharged home where growth and development progressed normally and the head circumference diminished by 50%. At 6 months an MRI (Fig 1C) showed an increase in size of the third ventricle and both lateral ventricles when compared with the MRI performed just after the fenestration. As continued enlargement was expected, a second operative procedure was performed consisting of an endoscopic cyst fenestration and third ventriculostomy. At 9 months of age, an MRI (Fig 1D) showed a decrease in the size of the cyst and lateral ventricles. At 1 year of age, his cognitive function appears mildly delayed. His vision is grossly normal; ocular motility is full, conjugate, and free of nystagmus. Tone and strength are normal and without focal deficit. The fetal MRI alerted the family to the presence of this huge multiloculated arachnoid cystic malformation that could be associated with severe neurologic and endocrinologic abnormalities. These cysts frequently enlarge, as was evident with this infant who has done remarkably well considering the magnitude of the cystic malformation. Figure 1. (A) Antenatal sagittal magnetic resonance image (MRI) at 28 weeks’ gestation demonstrated a large infratentorial/supratentorial multiloculated cystic malformation displacing the brainstem superiorly and posteriorly. (B) Postnatal T2-weighted sagittal MRI showed this suprasellar-prepontine midline cyst extending into the posterior fossa to have enlarged when compared with the fetal study. (C) Follow-up T1-weighted sagittal MRI at 6 months of age showed the third ventricular cyst and lateral ventricles had increased in size compared with the immediate postoperative MRI following the initial fenestration procedure (not shown). (D) Follow-up T2-weighted sagittal MRI at 9 months of age showed a decrease in the size of the cyst and ventricles following endoscopic cyst fenestration and third

Hypothalamic dopaminergic stimulation in cluster headache

Cluster headache is associated with structural abnormalities of the hypothalamus. We were interested in the association of cluster headache with endocrinological functional abnormalities. Therefore, we applied the apomorphine challenge test, which is a specific test of hypothalamic dopaminergic activation. We enrolled 13 patients with cluster headache outside the bout and without medication. They were stimulated with 0.005 mg/kg of body weight subcutaneous apomorphine hydrochloride. After 45 and 60 minutes, growth hormone (GH), prolactin and cortisol were measured. The test was also applied to 14 sex- and age-matched healthy control subjects. There were significantly higher GH levels in healthy subjects as compared to cluster headache patients 45 minutes after injection (10.8 ± 10.8 versus 4.4 ± 7.4 ng/ml; P = 0.038). Only in cluster headache, the GH level after 60 minutes was not significantly different from the baseline. The levels of prolactin and cortisol did not show any significant differences between cluster headache patients and in healthy subjects. Our data suggest that cluster headache is associated with an impaired dopaminergic stimulation. This finding supports the body of evidence that cluster headache is associated with a functional abnormality of the hypothalamus and that this association is a primary (i.e. idiopathic) and not a secondary phenomenon during the bout.

Novel mutations of the PRKAR1A gene in patients with acrodysostosis

Acrodysostosis is characterized by a peripheral dysostosis that is accompanied by short stature, midface hypoplasia, and developmental delay. Recently, it was shown that heterozygous point mutations in the PRKAR1A gene cause acrodysostosis with hormone resistance. By mutational analysis of the PRKAR1A gene we detected four different mutations (p.Arg368Stop, p.Ala213Thr, p.Tyr373Cys, and p.Arg335Cys) in four of seven affected patients with acrodysostosis. The combination of clinical results, endocrinological parameters and in silico mutation analysis gives evidence to suppose a pathogenic effect of each mutation. This assumption is supported by the de novo origin of these mutations. Apart from typical radiological abnormalities of the hand bones, elevated thyroid stimulating hormone and parathyroid hormone values as well as short stature are the most common findings. Less frequent features are characteristic facial dysmorphisms, sensorineural hearing loss and mild intellectual disability. These results lead to the conclusion that mutations of PKRAR1A are the major molecular cause for acrodysostosis with endocrinological abnormalities. In addition, in our cohort of 44 patients affected with brachydactyly type E (BDE) we detected only one sequence variant of PRKAR1A (p.Asp227Asn) with an unclear effect on protein function. Thus, we conclude that PRKAR1A mutations may play no major role in the pathogenesis of BDE.

緑茶抽出物飲料の過剰摂取により低カリウム血性ミオパチーをきたした1例

A 49-year-old man subacutely developed muscle weakness in four extremities over a few days. He had no past or family history of muscle weakness. His blood tests showed significant hypokalemia without endocrinological abnormalities. With the diagnosis of hypokalemic myopathy, potassium was administered orally, and his symptoms improved. The patient had been drinking a beverage containing green tea extract too much two weeks before the symptoms developed, in addition to taking a cold remedy for ten years. Thus, hypokalemia is considered to be induced by the excessive intake of caffeine that accompanies the excessive consumption of the beverage and cold remedy.

Pituicytoma: Report of three cases with review of literature

Pituicytoma is a rare low-grade tumor (WHO Grade I) of pituicytes involving the sellar–suprasellar region, and originating from the specialized glial cells of the neurohypophysis. Clinically and radiologically, they closely mimic pituitary adenoma or meningioma. Diagnosis requires histopathological examination of the resected tissue. This uncommon glial neoplasm is a rarity, with only 57 cases reported in the literature so far. We report three cases of pituicytoma (aged between 7 and 24 years) presenting with reduced vision, headache and features of hypercortisolism in one case. Radiologically, these lesions mimicked meningioma, hypothalamic chiasmatic glioma and pituitary microadenoma, respectively. The second case is a 7-year-old girl, the youngest case on record. Since this tumor is uncommon, it is frequently misdiagnosed. Awareness of this entity is essential for planning management and treatment. We present a brief review of all cases reported in the medical literature, and describe the clinical symptomatology, associated endocrinological abnormalities, imaging characteristics, behavior and outcome.