scholarly journals Van Wyk-Grumbach syndrome and oligosyndactyly in a 6-year-old girl: a case report

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Niranjalee Samanthika Egodawaththe ◽  
Sumudu Nimali Seneviratne ◽  
Suvini Gunasekara ◽  
Sathika Manori Amarasekara ◽  
Kumudu Weerasekara
Keyword(s):  
Precocious Puberty ◽  
Hormone Receptors ◽  
Early Recognition ◽  
Final Height ◽  
Hormone Replacement ◽  
Macrocytic Anemia ◽  
Bone Age ◽  
Breast Development ◽  
Syndromic Diagnosis ◽  
Stimulating Hormone

Abstract Background Van Wyk-Grumbach syndrome refers to the development of isosexual precocious pseudopuberty and multicystic enlarged ovaries in the presence of hypothyroidism and delayed bone age. It is a rare presentation of untreated hypothyroidism. The prepubertal response in Van Wyk-Grumbach syndrome is always isosexual and mediated by very high thyroid-stimulating hormone levels acting through the follicle-stimulating hormone receptors inducing a follicle-stimulating hormonal effect. Early recognition and thyroid hormone replacement can completely regress precocious puberty and ovarian enlargement, while improving the final height achievement. Oligosyndactly is a congenital bony abnormality and can manifest either as an isolated malformation or as a component of a syndromic diagnosis. However, development of hypothyroidism in children with this peculiar bony deformity has rarely been described in the medical literature, with the exception of Cenani-Lenz Syndactyly syndrome. Case presentation We report the case of a 6-year-old Sri Lankan girl who presented with a 2-day history of vaginal bleeding and exertional dyspnea. She had marked short stature (well below −3 standard deviations) with an upper segment to lower segment ratio of 1.47. This girl had isolated breast development of Tanner stage 2. She was diagnosed to have acquired hypothyroidism secondary to autoimmune thyroiditis and also had macrocytic anemia, pericardial effusion, gonadotropin-releasing hormone-independent precocious puberty with radiological evidence of pubertal changes in the uterus, and multicystic ovaries. Interestingly, she also had post-axial oligosyndactyly in both feet and right-sided clubfoot. The diagnosis of Van Wyk-Grumbach syndrome was made based on the clinical and laboratory features. Her symptoms were successfully managed with L-thyroxine therapy. Conclusions Acquired hypothyroidism is a relatively common endocrine disorder among children and early recognition is important to prevent serious complications like Van Wyk-Grumbach syndrome. Sexual precocity with delayed bone age and stunting should direct our minds toward this unique diagnosis. It is always necessary to identify the other associated anomalies in addition to the primary diagnosis since these features may direct to a syndromic diagnosis.

scholarly journals Congenital Hypothyroidism with Precocious Puberty-A Case Report

2011 ◽  
Vol 24 (1) ◽  
pp. 48-50
Author(s):  
M Sanaul Haque ◽  
SN Hasnain ◽  
MI Haque ◽  
MA Hossain ◽  
MI Bari
Keyword(s):  
Case Report ◽  
Congenital Hypothyroidism ◽  
Precocious Puberty ◽  
Vaginal Bleeding ◽  
Rare Case ◽  
Rare Condition ◽  
Bone Age ◽  
Pubic Hair ◽  
Breast Development

Congenital hypothyroidism with precocious puberty is a rare condition. In this report a rare case of congenital hypothyroidism with precocious puberty is described. A 10 years old girl presented with feature of hypothyroidism together with breast development, vaginal bleeding, lack of pubic hair and delayed bone age. She also had multicystic ovaries. She was treated with L-thyroxine and improved TAJ 2011; 24(1): 48-50

scholarly journals Isosexual precocious puberty with primary hypothyroidism: an interesting case report

2017 ◽  
Vol 6 (9) ◽  
pp. 4140
Author(s):  
Kaliki Hymavathi ◽  
Surekha Tadisetti ◽  
Divya Pusarla ◽  
Malini Devi Gottipati
Keyword(s):  
Case Report ◽  
Precocious Puberty ◽  
Abdominal Mass ◽  
Bone Age ◽  
Interesting Case ◽  
Primary Hypothyroidism ◽  
Uterine Bleeding ◽  
Breast Development ◽  
Girl Child ◽  
History Of

Isosexual precocious puberty in a girl child is defined as thelarche before 6 years in African–Americans and 7 years in Caucasians and menarche before the age of 9 years. In 1960, Van Wyk and Grumbach first described a syndrome characterised by breast development, uterine bleeding and multicystic ovaries in the presence of long standing primary hypothyroidism. We describe an interesting case of 8 year old girl presented with the complaint of abdominal mass with history of premature menarche and breast development. She is found to have gross hypothyroidism, hyperprolactinemia, prepubertal LH levels, multicystic ovaries and delayed bone age. Thyroid replacement amazingly settled her problems bringing her to normalcy. 

scholarly journals Premature thelarche: identification of clinical and laboratory data for the diagnosis of precocious puberty

2002 ◽  
Vol 57 (2) ◽  
pp. 49-54 ◽  
Author(s):  
Thais Della Manna ◽  
Nuvarte Setian ◽  
Durval Damiani ◽  
Hilton Kuperman ◽  
Vaê Dichtchekenian
Keyword(s):  
Luteinizing Hormone ◽  
Precocious Puberty ◽  
Follicle Stimulating Hormone ◽  
Bone Age ◽  
Premature Thelarche ◽  
Luteinizing Hormone Releasing Hormone ◽  
Releasing Hormone ◽  
Hormone Stimulation ◽  
Isolated Premature Thelarche ◽  
Stimulating Hormone

PURPOSE: Two groups of girls with premature breast development were studied retrospectively. We tried to identify clinical, radiological, and hormonal parameters that could distinguish between a benign, nonprogressive premature thelarche and a true precocious puberty. METHODS: The clinical outcome of 88 girls with breast enlargement before 6.1 years of age was analyzed. Taking into account the progression of their sexual maturation, we allocated the children into 2 groups: "Isolated Premature Thelarche" (n = 63) and "Precocious Puberty" (n = 25) groups. Chronological and bone ages, height and growth velocity centiles, computerized tomography of hypothalamus-pituitary area, pelvic ultrasonography, gonadotropin response to luteinizing hormone-releasing hormone stimulation as well as basal levels of luteinizing hormone, follicle-stimulating hormone, estradiol, and prolactin were studied in both groups. Statistical analysis were performed using the Student t test to compare the sample means. Fisher's exact test and chi² test were used to analyze the nonparametric variables. RESULTS: Isolated premature thelarche most frequently affected girls younger than 2 years who presented exaggerated follicle-stimulating hormone response to luteinizing hormone-releasing hormone stimulation test. The precocious puberty group had higher initial stature, accelerated growth rate and bone age, increased uterine and ovarian volumes, high spontaneous luteinizing hormone levels by immunofluorimetric assay, as well as a high luteinizing hormone response and peak luteinizing hormone/follicle-stimulating hormone ratio after luteinizing hormone-releasing hormone stimulation. CONCLUSION: At initial presentation, girls who undergo true precocious puberty present advanced bone age, increased uterine and ovarian volumes in addition to breast enlargement, as well as an luteinizing hormone-predominant response after a luteinizing hormone-releasing hormone stimulation test.

scholarly journals Increased Final Height in Precocious Puberty after Long-Term Treatment with LHRH Agonists: The National Institutes of Health Experience

2001 ◽  
Vol 86 (10) ◽  
pp. 4711-4716 ◽  
Author(s):  
Karen Oerter Klein ◽  
Kevin M. Barnes ◽  
Janet V. Jones ◽  
Penelope P. Feuillan ◽  
Gordon B. Cutler Jr.
Keyword(s):  
Precocious Puberty ◽  
Adult Height ◽  
Final Height ◽  
Bone Age ◽  
Chronological Age ◽  
Lhrh Agonist ◽  
Duration Of Treatment ◽  
Long Term Treatment ◽  
Predicted Height

We report 98 children who have reached final adult height in a long-term trial of LHRH agonist treatment. These children were 5.3± 2.1 yr old at the start of treatment and were treated with either deslorelin (4 μg/kg·d sc) or histrelin (4–10 μg/kg·d) for an average of 6.1 ± 2.5 yr. Final height averaged 159.8 ± 7.6 cm in the 80 girls, which was significantly greater than pretreatment predicted height (149.3 ± 9.6 cm) but still significantly less than midparental height (MPH) (163.7 ± 5.6). Final height averaged 171.1 ± 8.7 cm in the 18 boys, which was significantly greater than pretreatment predicted height (156.1 ± 14.2 cm) but still significantly less than MPH (178.3 ± 5.2 cm). However, the average adult height of the 54 children who had less than a 2-yr delay in the onset of treatment was not significantly different from their MPH, and 21 children exceeded MPH. Final height sd score correlated positively with duration of treatment (P < 0.01), midparental height (P < 0.001), predicted height at the start of treatment (P < 0.001), and growth velocity during the last year of treatment (P < 0.001) and correlated inversely with delay in the onset of treatment (P < 0.001), age at the start of treatment (P < 0.001), bone age at the start of treatment (P < 0.001), bone age at the end of treatment (P < 0.001), breast stage at the start of treatment (P = 0.02), and bone age minus chronological age at the start of treatment (P = 0.001). We conclude that LHRH agonist treatment improves the final height for children with rapidly progressing precocious puberty treated before the age of 8 yr for girls or 9 yr for boys. Less delay in the onset of treatment, longer duration of treatment, and lower chronological and bone age at the onset of treatment all lead to greater final height. All children with onset of pubertal symptoms before age 8 in girls and age 9 in boys should be evaluated for possible treatment. Treatment is appropriate in children with rapidly progressing puberty, accelerated bone maturation, and compromise of adult height prediction, regardless of bone age or chronological age at time of evaluation. However, once treatment is considered appropriate, it should be initiated quickly, because longer delays lead to shorter final height. In addition, the longer the treatment is continued, the greater is the final height outcome.

scholarly journals Mitotane in the treatment of childhood adrenocortical carcinoma: a potent endocrine disruptor

2018 ◽  
Vol 2018 ◽  
Author(s):  
Philip D Oddie ◽  
Benjamin B Albert ◽  
Paul L Hofman ◽  
Craig Jefferies ◽  
Stephen Laughton ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Precocious Puberty ◽  
Adrenocortical Carcinoma ◽  
Endocrine Disruptor ◽  
Residual Disease ◽  
Bone Age ◽  
Breast Development ◽  
List Type ◽  
Estrogenic Effect ◽  
Peripheral Precocious Puberty

Summary Adrenocortical carcinoma (ACC) during childhood is a rare malignant tumor that frequently results in glucocorticoid and/or androgen excess. When there are signs of microscopic or macroscopic residual disease, adjuvant therapy is recommended with mitotane, an adrenolytic and cytotoxic drug. In addition to the anticipated side effect of adrenal insufficiency, mitotane is known to cause gynecomastia and hypothyroidism in adults. It has never been reported to cause precocious puberty. A 4-year-old girl presented with a 6-week history of virilization and elevated androgen levels and 1-year advancement in bone age. Imaging revealed a right adrenal mass, which was subsequently surgically excised. Histology revealed ACC with multiple unfavorable features, including high mitotic index, capsular invasion and atypical mitoses. Adjuvant chemotherapy was started with mitotane, cisplatin, etoposide and doxorubicin. She experienced severe gastrointestinal side effects and symptomatic adrenal insufficiency, which occurred despite physiological-dose corticosteroid replacement. She also developed hypothyroidism that responded to treatment with levothyroxine and peripheral precocious puberty (PPP) with progressive breast development and rapidly advancing bone age. Five months after discontinuing mitotane, her adrenal insufficiency persisted and she developed secondary central precocious puberty (CPP). This case demonstrates the diverse endocrine complications associated with mitotane therapy, which contrast with the presentation of ACC itself. It also provides the first evidence that the known estrogenic effect of mitotane can manifest as PPP. Learning points: Adrenocortical carcinoma is an important differential diagnosis for virilization in young children Mitotane is a chemotherapeutic agent that is used to treat adrenocortical carcinoma and causes adrenal necrosis Mitotane is an endocrine disruptor. In addition to the intended effect of adrenal insufficiency, it can cause hypothyroidism, with gynecomastia also reported in adults. Patients taking mitotane require very high doses of hydrocortisone replacement therapy because mitotane interferes with steroid metabolism. This effect persists after mitotane therapy is completed In our case, mitotane caused peripheral precocious puberty, possibly through its estrogenic effect.

Bone Age at Discontinuation of Medroxyprogesterone Acetate Therapy in Girls with Precocious Puberty: Effect on Final Height

1995 ◽  
Vol 44 (1) ◽  
pp. 12-16 ◽  
Author(s):  
E. Boulgourdjian ◽  
M.E. Escobar ◽  
A. Martinez ◽  
J.J. Heinrich ◽  
C. Bergadá
Keyword(s):  
Precocious Puberty ◽  
Medroxyprogesterone Acetate ◽  
Final Height ◽  
Bone Age

scholarly journals Central Precocious Puberty in a Three-Year-Old Girl

2021 ◽  
Vol 27 (3) ◽  
pp. 341
Author(s):  
Suryani Jamal ◽  
Liong Boy Kurniawan ◽  
Suci Aprianti ◽  
Ratna Dewi Artati ◽  
Ruland DN Pakasi ◽  
...  
Keyword(s):  
Physical Examination ◽  
Precocious Puberty ◽  
Tanner Stage ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Breast Development ◽  
Hypothalamic Hamartoma ◽  
Secondary Sexual Characteristics ◽  
Pelvic Ultrasonography ◽  
Sexual Characteristics

Precocious puberty is defined as the onset of secondary sexual characteristics before 8 years of age in girls and 9 years in boys. Central Precocious Puberty (CPP) is caused by early activation of the hypothalamic-pituitary-gonadal axis. Laboratory test of LH, FSH, and Estradiol is recommended for monitoring suppressive effects from GnRHa therapy in the early three months and every six months. This study aimed to report a case of CPP in a 3-year and 3-month-old girl. A 3-year and 3-month-old girl went to the hospital with vaginal bleeding (menstruation), breast development, and pubic and axilla hair for 7-month-old. Physical examination found moderately ill with obesity, body weight 20 kg, height 98 cm. Tanner stage was A2M3P2, café au lait was found in the left forehead with size 7x3.5 cm. In March 2015 before GnRHa therapy, LH, FSH and Estradiol level increased with levels of 4.32 mlU/mL, 6.01 mlU/mL, and 67 pg/mL, and after 3 months of the treatment was 0.87 mlU/mL, 2.51 mlU/mL and <20 pg/mL. Pelvic ultrasonography showed suggestive precocious puberty, bone age 5-year and 9-month (Greulich and Pyle), CT-Scan of the brain showed hypothalamic tumor suspected hypothalamic hamartoma. This patient was treated with a GnRHa injection every 4 weeks. Leuprorelin is a synthetic non-peptide analogue of natural GnRH. The diagnosis was based on medical history, physical examination, laboratory, and radiological findings. The prognosis of the patient was good.

scholarly journals Gonadotropin Suppression for 7 Years after a Single Histrelin Implant for Precocious Puberty

2022 ◽  
Author(s):  
Douglas Villalta ◽  
Jose Bernardo Quintos
Keyword(s):  
Standard Deviation ◽  
Precocious Puberty ◽  
Final Height ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Genetic Potential ◽  
Parental Height ◽  
Hormone Analogs ◽  
Lost To Follow Up

Abstract Gonadotropin releasing hormone analogs (GnRHas) are an effective treatment to address the compromise in height potential seen in patients with central precocious puberty. There is no evidence in the literature of a single GnRHa used for longer than 2 years before being removed or replaced. We describe a patient who was on continuous gonadotropin suppression for 7 years and despite this, achieved a height potential within one standard deviation of mid-parental height. A boy aged 10 years and 3 months presented to endocrine clinic with signs of precocious puberty and advanced bone age. Initial labs showed random LH 9.4 mIU/mL, FSH 16.3 mIU/mL, DHEAS 127 mcg/dl, and testosterone 628 ng/dL. He was initially started on Lupron injections before transitioning to a Histrelin implant. Follow-up laboratory results 5 months post-suppression showed pre-pubertal random LH 0.2 mIU/mL, FSH 0.1 mIU/mL, and testosterone 5 ng/dL. The patient was lost to follow-up and returned 5 years later presenting with gynecomastia and delayed bone age. He had continuous gonadotropin suppression with random LH 0.10 mIU/mL, FSH 0.16 mIU/mL, and testosterone 8 ng/dL. The Histrelin implant was removed and 4 months after removal labs showed random pubertal hormone levels with LH 5.6 mIU/mL, FSH 4.3 mIU/mL, and testosterone 506 ng/dl. The patient’s mid-parental height was 175.3 cm and the patient’s near final height was 170.6 cm which is within one standard deviation of his genetic potential. Further studies are needed to explore continuous gonadotropin hormone suppression with a single Histrelin implant beyond 2 years.

scholarly journals Near-final height in patients with congenital adrenal hyperplasia treated with combined therapy using GH and GnRHa

2011 ◽  
Vol 55 (8) ◽  
pp. 661-664 ◽  
Author(s):  
Carlos Alberto Longui ◽  
Cristiane Kochi ◽  
Luís Eduardo Procópio Calliari ◽  
Maria Barcellos Rosa Modkovski ◽  
Marisa Soares ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Precocious Puberty ◽  
Combined Therapy ◽  
Final Height ◽  
Standard Deviation Score ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Hormonal Control ◽  
Adrenal Hyperplasia ◽  
Gh Treatment

INTRODUCTION: Intrinsic limitations of glucocorticoid therapy in patients with congenital adrenal hyperplasia (CAH) determine frequent loss in final height. The association of secondary central precocious puberty and early epiphyseal fusion is also frequent. In these conditions, GnRHa treatment alone or in combination with GH has been indicated. OBJECTIVES: This is a retrospective study, describing the estatural findings of CAH patients with significant decrease in height prediction, who were submitted to combined GH plus GnRHa therapy up to near-final height. SUBJECTS AND METHODS: We studied 13 patients, eight females and five males, eight with the classical and five with the nonclassical form of the disorder. Treatment with hydrocortisone (10-20 mg/m²/day) or prednisolone (3-6 mg/kg/day) was associated with GnRHa (3.75 mg/months) for 4.0 (1.5) years, and GH (0.05 mg/kg/day) for 3.6 (1.4) years. RESULTS: Stature standard deviation score for bone age improved significantly after GH treatment, becoming similar to target height at the end of the second year of GH treatment. CONCLUSION: We conclude that combined GH plus GnRHa therapy can be useful in a subset of CAH patients with significant reduction of predicted final height associated with poor hormonal control and central precocious puberty.

scholarly journals Deep Learning-Based Ultrasound Imaging Diagnosis for Gonadotropin-Releasing Hormone Agonists Treatment of Central Precocious Puberty

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Ruifang Qi ◽  
Kun Yang ◽  
Rongmin Li
Keyword(s):  
Deep Learning ◽  
Ultrasound Imaging ◽  
Precocious Puberty ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Gonadotropin Releasing Hormone ◽  
Breast Development ◽  
Imaging Diagnosis ◽  
Ovarian Volume ◽  
Uterine Volume

To explore the adoption of ultrasound imaging diagnosis based on deep learning of convolutional neural networks (CNNs) in the treatment of central precocious puberty (CPP) by gonadotropin-releasing hormone agonists (GnRHa), ultrasound imaging based on CNN was utilized to treat CPP. The bone age, uterine and ovarian volume, and breast development of incomplete precocious puberty (IPP) group and CPP group were observed and recorded. The peak values of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) were measured. The uterine and ovarian volume before and after GnRHa treatment of CPP were compared. The results showed that the bone age (9.03 ± 1.07), uterine volume (2.37 ± 1.52), ovarian volume (2.36 ± 0.82 mL), and breast development of the CPP group were considerably higher in contrast to the IPP group and control group ( P < 0.05 ). The LH peak (11.97 ± 5.63) and FSH peak (12.89 ± 3.15) of the CPP group were substantially higher relative to the IPP group ( P < 0.05 ). The uterine volume (1.06 ± 0.42) and ovarian volume (1.12 ± 0.49) after treatment were inferior to those before treatment ( P < 0.05 ). In short, ultrasound images based on deep learning could diagnose precocious puberty, which could also provide a certain basis for GnRHa treatment of CPP, as well as an important basis for clinical diagnosis and treatment of precocious puberty.

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