bluuebunny/crossref_metadata_2025_split huggingface dataset:
PMON318 Nephrogenic syndrome of inappropriate antidiuresis in a 19 months old child with gross developmental delay
Authors: Bargman Renee , Gavryutina Irina 
Published: November 2022

Abstract

Case report
19 months old African American boy with nonsignificant past medical history presented with inability to walk, hypotonia chewing difficulties and speech delay. Initial laboratory evaluations demonstrated serum hyponatremia of 120-129 mEq/dl, low serum osmolality 261 mosm/kg (normal serum osmolality 275-295 mosm/kg) with inappropriately high urine osmolality 445 mosm/kg) (normal urine osmolality 300-1000 mosm/kg). Blood work for thyroid, adrenal, and pituitary function was unremarkable. Vasopressin level of 2.4 pg/ml (normal 0.0 - 4.7 pg/mL) did not support the diagnosis of Syndrome of Inappropriate Antidiuretic Hormone Secretion (SIADH). Fludrocortisone challenge test ruled out aldosterone deficiency with insufficient decrease in urine sodium and no response in serum sodium. Renal ultrasound and brain MRI were normal. Genetic testing revealed AVPR2 X-linked mutation c.409C&gt;T p.R137C, consistent with nephrogenic syndrome of inappropriate antidiuresis (NSIAD). The patient was discharged on sodium chloride tablets 2g every 8 hours and remained stable, asymptomatic. One month after discharge patient showed significant neurological improvement.

Discussion
Sodium is known to play a significant role in growth and maturation of the whole body, especially of the nervous system. Moderate (120-129 mEq/L) to severe (&lt;120 mEq/L) hyponatremia can present with nausea, malaise, headache, lethargy, motor and speech delay, seizures and even death due to brain herniation. Normal fluid and electrolyte balance is achieved by the thirst mechanism and free water excretion in kidneys. This is mediated by Vasopressin, which acts through V2R receptor in distal renal collecting duct. Syndrome of inappropriate antidiuretic hormone secretion (SIADH) is the most common cause of hyponatremia. Reset osmostat syndrome with a congenitally low serum osmolality threshold is one of the rare disorders on the differential. Hereditary nephrogenic syndrome of inappropriate antidiuresis is very rare mutation in vasopressin receptor, which clinically resembles SIADH except for normal/low vasopressin levels in set of hyponatremia. It causes gain of function and inappropriately high water retention.
Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
PMON322 Gigantism in 13-Year-Old Male With Pituitary Tumor
Authors: Senguttuvan Rajan , Huante David , Ricoy Giselle 
Published: November 2022

Abstract

Background
Pituitary gigantism is caused by excess growth hormone [GH] secretion from the pituitary gland when the growth plates are open leading to excessive linear growth and tall stature in the pediatric population. It is extremely rare with a reported incidence of 8 cases per million person-years.

Clinical Case
The patient is a 13-year-old male who presented with concerns of accelerated growth rate and tall stature. His father noticed the patient's tall stature when he passed his own height the last year. The patient was seen by his PCP who referred the family to pediatric endocrinology. His symptoms included snoring and bi-weekly headaches, but no vision changes. Review of his growth charts showed linear growth tracking at greater than the 95th percentile since the age of 9 years. His clinical features included large hands, large feet, prominent jaw, testicular volume &gt;25 ml, tall stature [Ht &gt; 99%, Z= +4.59 SD]. The patient's mid-parental height is 69.1 inches [175.5 cm] and the patient measured 76.6 inches [194.5 cm]. His predicted height was 7 feet 1.5 inches [217.2 cm] based on his bone age. His clinical features were strongly concerning for Gigantism.
Initial labs showed IGF-1 of 924 ng/mL [168–576], prolactin of 20.1 ng/mL [2.8–11.0], and IGF-BP3 8.7 mg/L [3.1–9.5]. Cortisol, ACTH, TSH, FT4, LH, FSH, Testosterone were within normal limits. Bone age was concordant with chronological age. MRI showed enlarged pituitary gland measuring 1.3 cm in height, suspicious for macroadenoma. Cardiac evaluation including echocardiogram came back normal. GH suppression test resulted in a 2-hour GH level of 27.3 ng/mL [&lt;1] and he was diagnosed with Gigantism due to GH-secreting pituitary tumor. The parents decided to consult neurosurgery team at a different facility, where transsphenoidal resection of the pituitary tumor was performed. He did not develop any postoperative complications, including Diabetes insipidus or any pituitary hormone deficiencies, and was discharged home shortly after. Follow-up MRI of the pituitary showed no evidence of residual tumor. Pathology of the macroadenoma expressed GH and prolactin on immunohistochemical stains and was negative for TSH, LH/FSH, and ACTH. Genetic studies obtained were negative, lowering the likelihood of inherited predisposition to endocrine neoplasms. The patient has remained well post-operatively and has been able to continue school and play basketball without issues.

Conclusion
Pituitary gigantism occurs in the pediatric population prior to skeletal epiphyseal closure and is caused by GH excess. Initial screening tests should evaluate for pituitary function including IGF-1 and prolactin levels. The gold standard for diagnosing GH excess is the GH suppression test. Even though rare, it is important for clinicians to keep a high level of suspicion for quick recognition and management of overgrowth syndromes.
Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
PSAT104 Predicting Response to Growth Hormone Therapy with Pituitary Volume and The Growth Hormone Stimulation Test
Authors: McGuirk Liam , Epstein Benjamin , Krasnow Matthew , Manely Sarah , Patale Tara , Sayegh Emily , Tenner Michael , Mehta Shilpa , Schefflein Javin , Mehta Hasit , Vanier Cheryl , Noto Richard 
Published: November 2022

Abstract

Background
Patients with diminished growth hormone (GH) secretion are candidates for GH therapy (GHT). The GH stimulation test (GHST) is considered the gold standard for the diagnosis of GH deficiency (GHD), yet its efficacy has been questioned. In this study we explore the GHST and PV's ability to define GHD and determine their individual ability to predict GHT outcomes.

Subjects and Methods
A database at a Pediatric Endocrinology center was queried for patients aged 6-18 yrs who underwent a GHST, MRI, and GHT between 1/2018 - 1/2021. Patients with a first follow up (FU) between 3 and 9 months were included; of these patients, second FUs were included if they occurred between 9 and 15 months. Patients with relevant comorbidities, those with GHST peak ≥ 10.0 ng/mL, and nonadherent patients were excluded. MRIs were acquired on a Philips 1.5 or 3.0 T scanner (2mm slices) and PV was calculated using the ellipsoid formula (LxWxH/2).
PV and height were converted to SDS. Response to treatment was defined as change in height SDS over the assessed time interval. A multiple linear regression was utilized to analyze the response to GHT relative to peak GH and PV, with initial height and age at stimulation included as covariates. The relationship between peak GH and PV SDS was analyzed with a Pearson correlation

Results
The first FU ranged between 3.1 and 8.9 months, and the second FU ranged between 9.0 and 14.9 months. 145 patients had one FU, and 83 patients had two FUs. Peak GH and PV SDS were not correlated (r=0.03). Patients who were relatively shorter for their age and gender at stimulation had higher growth rates in the first interval, but not in the second interval. Both PV and peak GH provided information about response to GHT. PV SDS negatively predicted the relative growth response to treatment in the first interval (slope=-0.03, p=0.048). However, PV only explained 3.7% of variation in growth. PV SDS was not a useful predictor of response in the second interval (slope=-0.01, p=0.693). Peak GH was a predictor of response to GHT in the first interval only after accounting for age at stimulation and initial height (slope=-0.01, p=0.032; r2=0.01). Peak GH was a predictor of response in the second interval (slope=-0.02, p=0.040), explaining 5.1% of the variation in growth.

Conclusion
Since peak GH and PV were not correlated, they likely reflect different physiological processes. PV and peak GH both provide information about response to GHT, so they should both be utilized to determine eligibility for GHT.
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT107 Evaluating Pituitary Volume and the Growth Hormone Stimulation Test in Siblings. Both Together Better Define the Etiology of Short Stature.
Authors: Sayegh Emily , McGuirk Liam , Patale Tara , Krasnow Matthew , Manely Sarah , Epstein Benjamin , Tenner Michael , Mehta Shilpa , Schefflein Javin , Mehta Hasit , Noto Richard 
Published: November 2022

Abstract
We have shown that short children have significantly reduced pituitary volume (PV)s and have speculated PV as a cause for diminished chronic growth hormone (GH) secretion and poor growth. In this study, we further elucidate the role of PV in the etiology of short stature (SS) in a larger cohort of siblings (SBs).The database of a Peds Endo Center between 2013-21 was queried for siblings with SS who underwent a GH Stimulation test (GHST) and MRI evaluation. Their results were compared with normal controls (NCs) as previously reported. 129 SBs of 60 families were compared to 170 NCs. SBs were divided into 3 groups (GPs). GP1 (n=79) consisted of families with only GHD. GP2 (n=12) contained families with only ISS SBs. GP3 (n=38) comprised families with mixed GHD and ISS. SBs &lt;11 yrs and &gt;11 yrs were considered prepubertal (prePB) and pubertal (PB), RSP. The mean (MN) and median (MD) age for both prePB and PB SBs were significantly different (p 0.05). The 32 PB patients in GP3 had a mean PV of 316.17± 197.53 mm3, which was significantly different from that of the PB NCs of 424.6 ± 138.4 mm3 (p&lt;0.001). Out of 38 children in GP3, 18 passed the GHST and 11 of those children who passed demonstrated a small pituitary gland (61%). 78% of prePB SBs had small PVs, while 88% were GHD. 66% of PB SBs had small PVs, while 70% of PB SBs were GHD. 71% of all SBs had small PVs, while 77% were GHD. When combined, GHST and PV identify the etiology for SS in 92% of subjects. The GHST and PV together identify more patients of SS who should qualify and benefit from GH therapy than the GHST alone. Since ages were significantly different and present as a limitation to this study, future studies should strive for age match control
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
RF14 | PMON328 The Effect of Pituitary Cysts on Pituitary Volume in Patients with Growth Hormone Deficiency and Idiopathic Short Stature
Authors: Patale Tara , McGuirk Liam , Krasnow Matthew , Epstein Benjamin , Manely Sarah , Sayegh Emily , Tenner Michael , Schefflein Javin , Mehta Hasit , Noto Richard 
Published: November 2022

Abstract

Background
Pituitary cysts (PCs) may be related to the development of diminished growth hormone secretion because they may limit the proliferation of somatotrophs. This study seeks to investigate the mass effect of PCs on the pituitary function.

Methods
Patients aged 6-18 with cysts and follow-ups between 2007–21 were compared to normal controls (NCs) aged 6-18 from a neuroradiology center. Pituitary volume (PV) is the volume of the pituitary gland including the cyst, while net pituitary volume (netPV) is the volume of the pituitary gland excluding the cyst. Since NCs did not have PCs, only PV was utilized. PVs and netPVs are reported in mm3. Data were stratified into prepubertal (age &lt; 11 yrs) and pubertal (age &gt; 11 yrs). The Kruskal-Wallis One Way ANOVA on Ranks was utilized to compare multiple means, and the Kruskal-Wallis Multiple-Comparison Z Value test (with Bonferroni adjustment) was utilized for pairwise comparisons.

Results
The mean and median PVs of prepubertal GHD (n=37), ISS (n=5), and NCs (n=58) were 290.2 ± 109.7 and 305.0, 314.4 ± 100.8 and 299.8, and 246.8 ± 63.7 and 241.6, respectively. The difference between mean PVs of prepubertal GHD, ISS, and NCs was not significant.
The mean and median PVs of pubertal GHD (n=58), ISS (n=33), and NCs (n=112) were 391.5 ± 163.5 and 370.2, 409.2 ± 215.8 and 382.9, and 424.2 ± 138.9 and 402.7, respectively. The difference between mean PVs of pubertal GHD, ISS, and NCs was not significant.
For netPV, the mean and median values for prepubertal GHD and ISS patients were 252.2 ± 83.3 and 272.2, and 245.2 ± 85.7 and 244.9, respectively. The difference between mean netPVs of prepubertal GHD, ISS, and NCs was not significant.
For netPV, the mean and median values for pubertal GHD and ISS patients were 332.7 ± 121.3 and 346.4, and 333.9 ± 146.1 and 330.7, respectively. The mean netPVs of pubertal GHD and ISS patients were both significantly lower than the mean PV of pubertal NCs.
The mean and median PVs for cyst patients were 364.8 ± 170.0 and 347.8 which was not significantly different from the NCs. The mean and median netPVs for cyst patients were 307.3 ± 122.9 and 289.0 which was significantly different from the NCs (p&lt;0.001).

Conclusion
When considering the functional component of the pituitary gland, cyst volume should be subtracted from the overall pituitary gland.
Presentation: Sunday, June 12, 2022 12:36 p.m. - 12:41 p.m., Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
LBODP068 Double Trouble: Co-occurrence Of Epididymal Cyst With Testicular Hydrocele And Varicocel In Patient With Kallmann
Authors: Shaaban Noreen Hamed , Angueira Eugenio , Gone Jayanthraj , Kodali Yukthi , Vallepu Shirisha R , Gonzalez Javier A , Lozada Arianna , Pinto Rohan 
Published: November 2022

Abstract

Background
We present a patient with central and peripheral hypogonadism, decreased libido, and erectile dysfunction, who was previously diagnosed with Kallmann syndrome confirmed by serum hormone panel and ultrasonography.

Clinical Case
A 27-year-old male with a past medical history of hypogonadotropic hypogonadism, Kallmann syndrome, obesity, and dyslipidemia presented to the clinic with concerns about his reproductive health. There was no family history of hypogonadism. He was diagnosed with Kallmann syndrome at the age of 14 due to short stature and had been treated using testosterone therapy. He had paused therapy for 6 months prior to the visit for the trial of a new medication, Menopur, to improve his fertility. However, the therapy had failed to improve his sperm count. Laboratory tests showed a subclinical total testosterone level of 7 ng/dL which was consistent with hypogonadism, so testosterone therapy was restarted with weekly 200 mg/mL testosterone cypionate intramuscular injections. Results were also significant for dyslipidemia with total cholesterol 299 mg/dL, triglycerides 240 mg/dL, HDL 38 mg/dL, LDL-c 217 mg/dL, and elevated BMI of 38.52 kg/m2, for which the patient was started on rosuvastatin 20 mg daily and counseled on lifestyle modification. HbA1c levels were in the pre-diabetic range of 5.8%, and he was started on metformin 500 mg BID. On a repeat visit, the patient complained of painless testicular swelling, for which ultrasonographic imaging was ordered. The results showed bilateral small testes for age measuring 1.9×1.4×1.2 cm on right and 2.5×1.4×1.4 cm on left with a 0.6×0.4 cm left epididymal cyst and evidence of mild right hydrocele and left varicocele. The patient was referred to a genitourinary specialist for further investigation. On follow-up visit, the patient presented with new labs showing improvement with total testosterone 943 ng/dL, free testosterone 255.6 pg/mL, FSH &lt;0.7 mIU/mL, and estradiol 64 pg/mL. The patient continued with testosterone therapy over the long term after failing the trial of Menopur for fertility improvement.

Conclusion
Failing of hormonal replacement in improving the fertility inpatient with central hypogonadism warranty the importance of gonadal examination. This is a patient with a past medical history of hypogonadotropic hypogonadism, who had been treated with testosterone since the time of diagnosis to improve his short stature and secondary sexual characteristics. Given the clinical picture of his testes and failed trial of a new drug regimen, there was a low chance of regaining fertility for this patient.
Presentation: No date and time listed
ODP056 The Treatment of Opioid Addiction Leading to Secondary Adrenal Insufficiency
Authors: Morgan Farah , Shah Aditi 
Published: November 2022

Abstract

Background
As we continue to learn about the opioid crisis in America, more patients are seeking treatment for their opioid addictions. This treatment includes buprenorphine/naloxone, a partial opioid agonist and opioid antagonist. Though there is known evidence of opioid-induced secondary adrenal insufficiency, there is scarce data regarding the effect of buprenorphine/naloxone on the hypothalamic-pituitary-adrenal (HPA) axis. Here we describe a case of secondary adrenal insufficiency in a patient who is on long-term treatment for her opioid addiction with buprenorphine/naloxone.

Clinical Case
A 30 year old female with a past medical history of ADHD, OCD, PTSD, and menorrhagia presented with extreme fatigue, 100-pound weight gain, hair loss, and intermittent red flushing on hands and face over the past year. Labs showed low androstenedione (21 ng/dL, n 41 - 262 ng/dL), low testosterone (6.5 ng/dL, n 10. 0 - 55. 0 ng/dL) and low DHEA-S levels (55.6 ug/dL, n 84.8 - 378. 0 ug/dL). Further history revealed that the patient had been on Buprenorphine/Naloxone for 4 years for opioid addiction. Testing revealed a low morning cortisol level (5.6 ug/dL, n 6.2 - 19.4 ug/dL). The patient was started on hydrocortisone 10mg in the morning and 5mg in the afternoon with improvement of symptoms. Repeat testing after holding hydrocortisone revealed a cortisol level (6.6 n 6.2 - 19.4 ug/dL) and an inappropriately low-normal ACTH level (16 pg/mL, n 6 - 50 pg/mL). Cosyntropin stimulation test did not show an adequate response with a baseline cortisol level of 3.4 ug/dL, (n 5. 0 - 23. 0 ug/dL), 30 minute cortisol level of 6.9 ug/dL and 60 minute cortisol level of 8.2 ug/dL (n &gt;18. 0 ug/dL). ACTH drawn at that time was low (&lt;5 pg/mL n 6 - 50 pg/mL). Pituitary MRI was completed and findings were insignificant. Due to continued fatigue, the hydrocortisone dose was increased to 15mg in the morning and 5mg in the afternoon with improvement in symptoms with a plan to retest the adrenal axis as she continues to wean off the Buprenorphine/Naloxone.

Conclusion
This case calls attention to secondary adrenal insufficiency caused by the treatment of opioid addiction with buprenorphine/naloxone. Further investigation of adrenal insufficiency secondary to buprenorphine/naloxone use is warranted given the frequency of use of this combination to treat the ongoing opiate addiction crisis in America.
Presentation: No date and time listed
ODP402 Adult height and reproductive outcome of Klinefelter men with a 46,XX/47,XXY mosaicism
Authors: Schepper Jean D , Gies Inge , Staels Willem , Unuane David , Vloeberghs Veerle , Wampers Alicia 
Published: November 2022

Abstract

Background
Mosaicism in Klinefelter Syndrome (KS) is reported in 15–20%, but 46,XX/47,XXY mosaicismis extremely rare and presents either during infancy with ambiguous genitalia or during adolescence with gynecomastia or microorchidism. In view of the scarce data on adult outcomes (1,2), we here comprehensively report the skeletal and reproductive health outcome in two individuals with 46,XX/47,XXY KS. Clinical cases The first case was born at 40 weeks after a spontaneous conception with a birth length of 49 cm. At birth right cryptorchidism, but a normally developed penis and scrotum was present. Surgical intervention at the age of 1 year, showed a right abdominal testicular nubbin. He was investigated at the age of 17 years for left microorchidism (6ml) contrasting with a normal genital development (Tanner G5). Hormonal investigation showed hypergonadotropinemia with a normal serum testosterone. Peripheral blood karyotype showed mosaicism 46,XX (60%)/47,XXY (40%). At the age of 18 years, standing height was 164.5 cm (mid-parental height (MPH) 173.5 cm). BMI was 19 kg/m2. Hormonal evaluation showed an unmeasurable serum inhibin B, elevated gonadotropins (LH 43 IU/L and FSH 65 IU/L), but a normal testosterone and estradiol. Ultrasound of the left testis showed a normal echo pattern. Azoospermia was documented. Lumbar spine bone mineral density (LS-BMD) was -1 SDS. The second case was born at 37 weeks after ICSI with a birth length of 49 cm. External genitalia at birth were normal. However, routine karyotyping after ICSI conception showed a mosaicism 46,XX (50)/ 47,XXY (50). A normal pubertal development apart from an arrest in testicular development at the age of 15 years was documented. At the age of 18 years, his height was 176.8 cm (MPH 184 cm), BMI 26 kg/m2, Tanner stage G5 and testes volumes 8/8 ml. Hormonal evaluation showed low inhibin B (43.4 ng/l), slightly elevated gonadotropins (LH 16.1 IU/L and FSH 12.5 IU/L), and normal testosterone and estradiol. Ultrasonography of the scrotum showed normal testicular structure. LS-BMD SDS was 1.

Conclusion
46,XX/47,XXY KS men, who present with normal male genitals at birth, can have a normal pubertal progression with the exception of a mid-pubertal testicular regression, but in contrast to men with a 46,XY/ 47,XXY constitution, appear at risk for a shorter stature than expected for parental height. References Velissariou V et al., European Journal of Medical Genetics (2006) 49, 331-337Matsuki S, Journal of Urology (1999) 161 (5), 1573-74
Presentation: No date and time listed
ODP404 Effects of Empagliflozin on Serum Androgens Levels in Men Without Diabetes
Authors: Kosinski Christophe , Salamin Olivier , Kuuranne Tiia , Nicoli Raul , Pitteloud Prof Nelly , Zanchi Anne 
Published: November 2022

Abstract

Introduction
Sodium-glucose cotransporter (SGLT) 2 inhibition is a well-known target for type 2 diabetes treatment, chronic heart failure and chronic kidney disease. SGLT2 is encoded by SLC5A2 (Solute Carrier Family 5 Member 2) gene, which is highly expressed in the kidney cortex(x36.9). Notably, SLC5A2is also overexpressed in the testes (x8.1), where glucose uptake could be crucial for androgen production and spermatogenesis. We hypothesized that the SGLT2 inhibitors use could interfere with testosterone production in healthy men.

Method
This is a post-hoc analysis of a double-blind, randomized, placebo-controlled study, in 27 healthy men who received empagliflozin 10mg once a day during 4 weeks. All weight categories were included: 15 normal weight, 15 overweight, 15 obese. In each group, 5 were randomized to the placebo and 10 to the empagliflozin. Serum samples were analyzed using an ultra-high-performance LC (UHPLC)–MS/MS method for quantification of total testosterone (TT) and dihydrotestosterone (DHT). TT and sex hormone-binding globulin were used to calculate free testosterone (FT).

Results
No significant changes were observed in total serum TT (Δ 2.1 nmol/L; p&gt;0.1), DHT (Δ 0. 03 nmol/L; p&gt;0.1) and FT (Δ 0.35 nmol/L; p&gt;0.1) after one month of empagliflozin.

Conclusion
The use of a highly selective SGLT2 inhibitor, empagliflozin, in men without diabetes did not change serum androgen levels, regardless of body mass index category. Studies on seminiferous tubule function in healthy men are ongoing to further clarify the role of SGLT2 in spermatogenesis.
Presentation: No date and time listed