scholarly journals Diagnosis and management of of primary amenorrhea and female delayed puberty

2021 ◽  
Author(s):  
Satu Seppä ◽  
Tanja Kuiri-Hänninen ◽  
Elina Holopainen ◽  
Raimo Voutilainen
Keyword(s):  
Pubertal Development ◽  
Hypogonadotropic Hypogonadism ◽  
Reproductive Capacity ◽  
Breast Development ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Old Females ◽  
Secondary Sexual

Puberty is the period of transition from childhood to adulthood characterized by the attainment of adult height and body composition, accrual of bone strength and the acquisition of secondary sexual characteristics, psychosocial maturation and reproductive capacity. In girls, menarche is a late marker of puberty. Primary amenorrhea is defined as the absence of menarche in ≥15-year-old females with developed secondary sexual characteristics and normal growth or that in ≥13-year-old females without signs of pubertal development. Furthermore, evaluation for primary amenorrhea should be considered in the absence of menarche three years after thelarche (start of breast development) or five years after thelarce, if that occurred before the age of 10 years. A variety of disorders in the hypothalamus-pituitary-ovarian axis can lead to primary amenorrhea with delayed, arrested or normal pubertal development. Etiologies can be categorized as hypothalamic or pituitary disorders causing hypogonadotropic hypogonadism, gonadal disorders causing hypergonadotropic hypogonadism, disorders of other endocrine glands, and congenital utero-vaginal anomalies. This article gives a comprehensive review of the etiologies, diagnostics and management of primary amenorrhea from the perspective of pediatric endocrinologists and gynecologists. The goals of treatment vary depending on both the etiology and patient; with timely etiological diagnostics fertility may be attained even in those situations where no curable treatment exists.

scholarly journals Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature

2021 ◽  
Author(s):  
Alise Jakovleva ◽  
Zanna Kovalova
Keyword(s):  
Median Time ◽  
Gonadal Dysgenesis ◽  
Additional Patient ◽  
Delayed Puberty ◽  
Primary Amenorrhea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis ◽  
Secondary Sexual

Background and aim. Complete gonadal dysgenesis or Swyer syndrome is a rare genetic disorder characterized by 46,XY karyotype and female phenotype with undeveloped streak gonads and high malignancy risk. The condition usually manifests in teenage and young adults with delayed puberty and primary amenorrhea. The purpose of this study was to investigate the incidence and potential malignant outcomes of complete gonadal dysgenesis in Latvia. Methods. 37 patients were included in a retrospective study from 1996 to 2016.  In fifteen cases, additional patient information was available. Information from medical records was collected on age at the time of diagnosis: anamnesis data, laboratory results, histology of gonads, and treatment. Results. Complete gonadal dysgenesis with karyotype 46,XY was proven in 36 (97.3%) cases and one (2.7%) case with karyotype 47,XY,+21. The average age of patients at the time of diagnosis was 15.4 ± 8.0 years. The study included 15 cases: eight patients (53.3%) were investigated for primary amenorrhea, and incomplete development of secondary sexual characteristics, 5 patients (33.3%) with abdominal pain and lower abdominal mass, 2 patients (13.3%) were diagnosed at birth. Gonadectomy was performed in 12 cases (80%). The median time between diagnosis and gonadectomy was 0.4 ± 4.3 years. The histopathology results from the gonadal biopsy showed malignancy in 7 cases (58.3%). The most commonly diagnosed tumors were dysgerminoma and gonadoblastoma. Conclusion. Early diagnosis of Swyer syndrome is necessary in view of the risk of malignancy that can develop at a young age. In several cases, the diagnosis of the syndrome was made only after the malignant process development. The study showed the median time between diagnosis and gonadectomy was suboptimal. Therefore, women with amenorrhea and lack of secondary sexual characteristics require careful investigation.  

scholarly journals Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity

2020 ◽  
Vol 105 (5) ◽  
pp. 1478-1488 ◽  
Author(s):  
Soumia Brakta ◽  
Lynn P Chorich ◽  
Hyung-Goo Kim ◽  
Laurel A Coons ◽  
John A Katzenellenbogen ◽  
...  
Keyword(s):  
Medical Center ◽  
Academic Medical Center ◽  
Lower Abdominal Pain ◽  
Breast Development ◽  
White Female ◽  
Vaginal Smear ◽  
Primary Amenorrhea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Secondary Sexual

Abstract Context We previously reported the first female with a causative ESR1 gene variant, who exhibited absent puberty and high estrogens. At age 15 years, she presented with lower abdominal pain, absent breast development, primary amenorrhea, and multicystic ovaries. The natural history of complete estrogen insensitivity (CEI) in women is unknown. Objective The purpose of this report is to present the neuroendocrine phenotype of CEI, identify potential ligands, and determine the effect of targeted treatment. Design We have characterized gonadotropin pulsatility and followed this patient’s endocrine profile and bone density over 8 years. Seventy-five different compounds were tested for transactivation of the variant receptor. A personalized medicine approach was tailored to our patient. Setting Academic medical center. Patient or Other Participants A 24-year-old adopted white female with CEI. Intervention(s) The patient was treated with diethylstilbestrol (DES) for approximately 2.5 years. Main Outcome Measure(s) Induction of secondary sexual characteristics. Results Luteinizing hormone (LH) pulse studies demonstrated normal pulsatile LH secretion, elevated mean LH, and mildly elevated mean follicle-stimulating hormone (FSH) in the presence of markedly increased estrogens. DES transactivated the variant ESR1 in vitro. However, DES treatment did not induce secondary sexual characteristics in our patient. Conclusions Treatment with DES was not successful in our patient. She remains hypoestrogenic despite the presence of ovarian cysts with a hypoestrogenic vaginal smear, absent breast development, and low bone mineral mass. Findings suggest additional receptor mechanistic actions are required to elicit clinical hormone responses.

scholarly journals MRKH syndrome: a review of literature

2018 ◽  
Vol 7 (12) ◽  
pp. 5219
Author(s):  
Nidhi Jain ◽  
Jyotsna Harlalka Kamra
Keyword(s):  
Ovarian Function ◽  
Surgical Techniques ◽  
Primary Amenorrhea ◽  
Mrkh Syndrome ◽  
Secondary Sexual Characteristics ◽  
Secondary Sexual Characters ◽  
Vaginal Aplasia ◽  
Rare Congenital Disorder ◽  
Sexual Characteristics ◽  
Secondary Sexual

Primary amenorrhea is defined as failure to achieve menarche till age of 14 years in absence of normal secondary sexual characters or till 16 years irrespective of secondary sexual characters. The most common cause of primary amenorrhea is gonadal pathology followed by Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome). MRKH syndrome is a rare congenital disorder characterised by uterine and vaginal aplasia. It occurs due to failure of development of Müllerian duct. Its incidence is 1 per 4500 female births. Mostly girls present with primary amenorrhea. It is characterised by presence of normal secondary sexual characteristics, normal 46 XX genotype, normal ovarian function in most of the cases and absent or underdeveloped uterus and upper part (2/3) of vagina. It is of two types: type A is isolated type while type B is associated with other renal/skeletal/cardiac anomalies. Treatment includes psychological counselling and vaginoplasty. Vaginoplasty can be done by various non-surgical and surgical techniques. The authors hereby review the literature of MRKH syndrome regarding its embryology, etiopathogenesis, approach to work up and management.

scholarly journals Turner's Syndrome: Approach to Diagnosis and Treatment

2018 ◽  
Vol 13 (3) ◽  
pp. 61-62
Author(s):  
Sadhana Sah ◽  
Ganesh Dangal ◽  
Aruna Karki ◽  
Hema Pradhan ◽  
Ranjana Shrestha ◽  
...  
Keyword(s):  
Short Stature ◽  
Estrogen Therapy ◽  
Tanner Stage ◽  
Breast Development ◽  
Primary Amenorrhea ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Secondary Sexual Characteristics ◽  
Karyotypic Abnormality ◽  
Sexual Characteristics

Turner's syndrome is the most common karyotypic abnormality causing gonadal failure and primary amenorrhea. It is characterized by short stature and absence of secondary sexual characteristics. It is diagnosed by increased plasma FSH and LH level with low level of estrogen i.e. hypergonadotrophic hypogonadism. Ultrasound abdomen reveals streak ovaries and atrophic uterus. Karyotype confirms the diagnosis of Turner's syndrome (45XO). We present here a 15 years girl who presented with primary amenorrhea with short stature with breast development corresponds to Tanner stage I. Her FSH was raised. Ultrasound abdomen showed uterine agenesis and streak ovaries. Karyotype showed 45XO which confirmed the diagnosis of Turner's syndrome. She is now on estrogen therapy and her height has increased and breast development corresponds to Tanner stage II. Keywords: hypergonadotrophic hypogonadism, primary amenorrhea, Turner's syndrome

scholarly journals Pubertal development in healthy children is mirrored by DNA methylation patterns in peripheral blood

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Kristian Almstrup ◽  
Marie Lindhardt Johansen ◽  
Alexander S. Busch ◽  
Casper P. Hagen ◽  
John E. Nielsen ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Peripheral Blood ◽  
Prediction Models ◽  
Pubertal Timing ◽  
Pubertal Development ◽  
Healthy Children ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Methylation Patterns ◽  
Secondary Sexual

Abstract Puberty marks numerous physiological processes which are initiated by central activation of the hypothalamic–pituitary–gonadal axis, followed by development of secondary sexual characteristics. To a large extent, pubertal timing is heritable, but current knowledge of genetic polymorphisms only explains few months in the large inter-individual variation in the timing of puberty. We have analysed longitudinal genome-wide changes in DNA methylation in peripheral blood samples (n = 102) obtained from 51 healthy children before and after pubertal onset. We show that changes in single methylation sites are tightly associated with physiological pubertal transition and altered reproductive hormone levels. These methylation sites cluster in and around genes enriched for biological functions related to pubertal development. Importantly, we identified that methylation of the genomic region containing the promoter of TRIP6 was co-ordinately regulated as a function of pubertal development. In accordance, immunohistochemistry identified TRIP6 in adult, but not pre-pubertal, testicular Leydig cells and circulating TRIP6 levels doubled during puberty. Using elastic net prediction models, methylation patterns predicted pubertal development more accurately than chronological age. We demonstrate for the first time that pubertal attainment of secondary sexual characteristics is mirrored by changes in DNA methylation patterns in peripheral blood. Thus, modulations of the epigenome seem involved in regulation of the individual pubertal timing.

Puberty and its disorders

2020 ◽  
pp. 49-82
Author(s):  
Gary Butler ◽  
Jeremy Kirk
Keyword(s):  
Precocious Puberty ◽  
Hypogonadotropic Hypogonadism ◽  
Hormone Secretion ◽  
Central Precocious Puberty ◽  
Pituitary Tumour ◽  
Cancer Treatments ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Fertility Potential ◽  
Secondary Sexual

• Puberty is defined as the acquisition of secondary sexual characteristics, with a view to reproductive capability. • Assessment of puberty can be done by Tanner stages or the puberty phases. • Timing of pubertal onset and sequence of changes is carefully controlled. • Premature sexual maturation: ◦ <8 years in girls; menarche <11 years ◦ <9 years in boys. • Central precocious puberty or gonadotropin-dependent precocious puberty: ◦ hormone secretion is similar to normal puberty ◦ may be idiopathic, genetic, or secondary to central nervous system/pituitary tumour or insult ◦ treatment is with gonadotropin-releasing hormone analogues. • Gonadotropin-independent precocious puberty (independent source of sex steroid, e.g. gonadal tumour): ◦ treatment should address the primary cause. • Late puberty: ◦ pubertal events within the later normal range. • Delayed onset of puberty: ◦ absence of secondary sexual characteristics: ■ >13 years in a girl ■ >14 years in a boy • Central causes (low follicle-stimulating hormone (FSH)/luteinizing hormone (LH)): ◦ chronic illness ◦ eating disorders ◦ physiological ◦ hypogonadotropic hypogonadism. • Peripheral causes (high FSH/LH): ◦ gonadal dysgenesis including chromosomal syndromes, e.g. Turner, Klinefelter ◦ gonadal damage including cancer treatments. • Treatment: ◦ low-dose sex hormone to induce growth and secondary sexual characteristics ◦ recombinant FSH/LH to induce fertility potential.

Neuroendocrine and Neurophysiologic Changes of Adolescence

1995 ◽  
Vol 32 (2) ◽  
pp. 95-98
Author(s):  
G. Bradley Schaefer
Keyword(s):  
Cleft Palate ◽  
Pubertal Development ◽  
Research Data ◽  
Hormone Levels ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Pubertal Stages ◽  
Normal Variability ◽  
Secondary Sexual

This paper reviews the changes of adolescence that affect neuroendocrine and neurophysiologic functions. Normal variability in onset and progression of pubertal stages is discussed. The effects of hypothalamic and pituitary maturation and resulting changes in circulating hormone levels at the onset of secondary sexual characteristics are reviewed. Several theories and research data regarding the causes of the onset of puberty are identified. Abnormal symptoms of pubertal development are reviewed, and suggestions made for the Cleft Palate-Craniofacial team to monitor these symptoms.

Amenorrhea

2021 ◽  
pp. 175573802110316
Author(s):  
Pooja Munjal ◽  
Manju Nair
Keyword(s):  
Common Type ◽  
Reproductive Age ◽  
Primary Amenorrhea ◽  
Women Of Reproductive Age ◽  
Secondary Amenorrhea ◽  
Secondary Amenorrhoea ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Sexual Characteristics ◽  
Secondary Sexual

Amenorrhoea is defined as absence of menstruation in women of reproductive age. Primary amenorrhoea is a failure to start menstruation by the age of 13 years without secondary sexual characteristics or by the age of 15 years with normal secondary sexual characteristics. Secondary amenorrhoea is the absence of menstruation for 6 months in a woman with normal prior menstruation. Secondary amenorrhea is more common type, with a prevalence of between 3 and 4%. This compares with a prevalence of 0.3% for those with primary amenorrhea.

scholarly journals Congenital hypogonadotropic hypogonadism: from clinical characteristics to genetic aspects

2021 ◽  
Vol 5 (3) ◽  
pp. 97-105
Author(s):  
Ahreum Kwon ◽  
Ho-Seong Kim
Keyword(s):  
Clinical Characteristics ◽  
Pubertal Development ◽  
Hypogonadotropic Hypogonadism ◽  
Reproductive Function ◽  
Delayed Puberty ◽  
Activation Process ◽  
Hpg Axis ◽  
Congenital Hypogonadotropic Hypogonadism ◽  
Sexual Characteristics ◽  
Main Component

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by a deficiency in gonadotropin-releasing hormone (GnRH). CHH is characterized by delayed puberty and/or infertility; this is because GnRH is the main component of the hypothalamic-pituitary-gonadal (HPG) axis, which is a key factor in pubertal development and reproductive function completion. However, since the development of sexual characteristics and reproduction begins in the prenatal period and is very complex and delicate, the clinical characteristics and involved genes are very diverse. In particular, the HPG axis is activated three times in a lifetime, and the symptoms and biochemical findings of CHH vary by period. In addition, related genes also vary according to the formation and activation process of the HPG axis. In this review, the clinical characteristics and treatment of CHH according to HPG axis activation and different developmental periods are reviewed, and the related genes are summarized according to their pathological mechanisms.

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